PRR5-ARHGAP8

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: The PRR5-ARHGAP8 mRNA is an infrequent but naturally occurring read-through transcript of the neighboring proline rich 5, renal (PRR5) and Rho GTPase activating protein 8 (ARHGAP8) genes. The resulting fusion protein contains sequence identity with each individual gene product, and it includes domains characteristic of a RhoGAP protein. The significance of this read-through transcript and the function of its protein product have not yet been determined. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1sphingosine metabolic process (GO:0006670)6.82278246
2diol metabolic process (GO:0034311)6.46788879
3sphingoid metabolic process (GO:0046519)6.14503345
4DNA methylation involved in gamete generation (GO:0043046)5.83026985
5melanin biosynthetic process (GO:0042438)5.45688824
6piRNA metabolic process (GO:0034587)4.99874099
7secondary metabolite biosynthetic process (GO:0044550)4.88620755
8melanin metabolic process (GO:0006582)4.80176109
9snRNA processing (GO:0016180)4.09462076
10positive regulation of megakaryocyte differentiation (GO:0045654)4.02054981
11cullin deneddylation (GO:0010388)3.85012576
12regulation of meiosis I (GO:0060631)3.84962455
13water-soluble vitamin biosynthetic process (GO:0042364)3.80140745
14snRNA metabolic process (GO:0016073)3.79744279
15DNA deamination (GO:0045006)3.73530199
16negative regulation of DNA-dependent DNA replication (GO:2000104)3.71587002
17regulation of cellular respiration (GO:0043457)3.66764495
18heme transport (GO:0015886)3.57691283
19response to pheromone (GO:0019236)3.56007008
20positive regulation of hematopoietic progenitor cell differentiation (GO:1901534)3.51588411
21protein deneddylation (GO:0000338)3.50740438
22positive regulation of gluconeogenesis (GO:0045722)3.45751558
23proteasome assembly (GO:0043248)3.36732016
24regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:00033393.22240480
25regulation of translational termination (GO:0006449)3.11141061
26terpenoid biosynthetic process (GO:0016114)3.11096763
27lipopolysaccharide biosynthetic process (GO:0009103)3.03839049
28respiratory chain complex IV assembly (GO:0008535)3.01865602
29regulation of DNA endoreduplication (GO:0032875)3.01477397
30tyrosine metabolic process (GO:0006570)2.98147512
31peptidyl-histidine modification (GO:0018202)2.96817602
32tachykinin receptor signaling pathway (GO:0007217)2.95521021
33regulation of nuclear cell cycle DNA replication (GO:0033262)2.95109114
34G-protein coupled glutamate receptor signaling pathway (GO:0007216)2.93130840
35negative regulation of G2/M transition of mitotic cell cycle (GO:0010972)2.92941288
36negative regulation of neurological system process (GO:0031645)2.91798613
37cornea development in camera-type eye (GO:0061303)2.91784629
38fucose catabolic process (GO:0019317)2.90179160
39L-fucose metabolic process (GO:0042354)2.90179160
40L-fucose catabolic process (GO:0042355)2.90179160
41intestinal epithelial cell development (GO:0060576)2.89665660
42keratinocyte development (GO:0003334)2.89241536
43protein-chromophore linkage (GO:0018298)2.88975066
44vitamin transmembrane transport (GO:0035461)2.85943959
45detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)2.85242318
46aspartate family amino acid catabolic process (GO:0009068)2.80968768
47L-methionine biosynthetic process from methylthioadenosine (GO:0019509)2.80192917
48regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)2.80073534
49ketone body metabolic process (GO:1902224)2.80031362
50pteridine-containing compound biosynthetic process (GO:0042559)2.77631732
51positive regulation of developmental pigmentation (GO:0048087)2.77355575
52folic acid-containing compound biosynthetic process (GO:0009396)2.76355444
53mitochondrial RNA metabolic process (GO:0000959)2.75874308
54phenol-containing compound biosynthetic process (GO:0046189)2.75593034
55dolichol-linked oligosaccharide biosynthetic process (GO:0006488)2.74234818
56behavioral response to ethanol (GO:0048149)2.69952225
57iron coordination entity transport (GO:1901678)2.69819288
58double-strand break repair via homologous recombination (GO:0000724)2.69154746
59recombinational repair (GO:0000725)2.68402322
60regulation of rhodopsin mediated signaling pathway (GO:0022400)2.67259163
61hepatocyte apoptotic process (GO:0097284)2.66195642
62erythrose 4-phosphate/phosphoenolpyruvate family amino acid metabolic process (GO:1902221)2.65345298
63L-phenylalanine metabolic process (GO:0006558)2.65345298
64cofactor transport (GO:0051181)2.64924774
65energy coupled proton transmembrane transport, against electrochemical gradient (GO:0015988)2.62235023
66ATP hydrolysis coupled proton transport (GO:0015991)2.62235023
67GMP metabolic process (GO:0046037)2.61691087
68regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090266)2.61190643
69regulation of mitotic spindle checkpoint (GO:1903504)2.61190643
70erythrose 4-phosphate/phosphoenolpyruvate family amino acid catabolic process (GO:1902222)2.59969335
71L-phenylalanine catabolic process (GO:0006559)2.59969335
72melanosome organization (GO:0032438)2.59007363
73positive regulation of triglyceride biosynthetic process (GO:0010867)2.58978611
74mannosylation (GO:0097502)2.58775140
75flavonoid metabolic process (GO:0009812)2.58298874
76rhodopsin mediated signaling pathway (GO:0016056)2.57872438
77auditory receptor cell stereocilium organization (GO:0060088)2.57401962
78lactate metabolic process (GO:0006089)2.56999417
79retinal rod cell development (GO:0046548)2.54822140
80sulfate transmembrane transport (GO:1902358)2.54599287
81rRNA modification (GO:0000154)2.53576798
82negative regulation of tumor necrosis factor-mediated signaling pathway (GO:0010804)2.51381574
83protein-cofactor linkage (GO:0018065)2.50340452
84positive regulation of uterine smooth muscle contraction (GO:0070474)2.50252085
85branched-chain amino acid catabolic process (GO:0009083)2.50175812
86regulation of transforming growth factor beta2 production (GO:0032909)2.48734601
87biotin metabolic process (GO:0006768)2.48022137
88regulation of nephron tubule epithelial cell differentiation (GO:0072182)2.47261921
89preassembly of GPI anchor in ER membrane (GO:0016254)2.46336232
90short-chain fatty acid metabolic process (GO:0046459)2.43925622
91prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060522.42023336
92serotonin receptor signaling pathway (GO:0007210)2.41696273
93mRNA modification (GO:0016556)2.40668407
94pigment biosynthetic process (GO:0046148)2.38336846
95cytochrome complex assembly (GO:0017004)2.37729029
96ribonucleoprotein complex disassembly (GO:0032988)2.37229562
97pigment granule organization (GO:0048753)2.36304130
98viral mRNA export from host cell nucleus (GO:0046784)2.36183582
99mitotic cell cycle arrest (GO:0071850)2.36114909
100NADH dehydrogenase complex assembly (GO:0010257)2.35846351

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1NOTCH1_17114293_ChIP-ChIP_T-ALL_Human3.86019632
2ZNF274_21170338_ChIP-Seq_K562_Hela3.76577002
3KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human3.75602481
4SALL1_21062744_ChIP-ChIP_HESCs_Human3.02764350
5GABP_17652178_ChIP-ChIP_JURKAT_Human2.94027709
6HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human2.72640653
7IGF1R_20145208_ChIP-Seq_DFB_Human2.68362658
8JARID1A_20064375_ChIP-Seq_MESCs_Mouse2.47695856
9NOTCH1_21737748_ChIP-Seq_TLL_Human2.45063063
10EST1_17652178_ChIP-ChIP_JURKAT_Human2.43001705
11ELF1_17652178_ChIP-ChIP_JURKAT_Human2.20803554
12VDR_22108803_ChIP-Seq_LS180_Human2.11393787
13SRF_21415370_ChIP-Seq_HL-1_Mouse2.05746060
14ETS1_20019798_ChIP-Seq_JURKAT_Human2.05005970
15ESR1_21235772_ChIP-Seq_MCF-7_Human2.02082131
16ER_23166858_ChIP-Seq_MCF-7_Human1.94550511
17FOXP3_21729870_ChIP-Seq_TREG_Human1.90682104
18FLI1_27457419_Chip-Seq_LIVER_Mouse1.89081771
19HOXB7_26014856_ChIP-Seq_BT474_Human1.86016717
20VDR_23849224_ChIP-Seq_CD4+_Human1.81240553
21CTBP2_25329375_ChIP-Seq_LNCAP_Human1.80732320
22PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse1.79651132
23PADI4_21655091_ChIP-ChIP_MCF-7_Human1.78520841
24MYCN_21190229_ChIP-Seq_SHEP-21N_Human1.76811464
25FUS_26573619_Chip-Seq_HEK293_Human1.70399122
26E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse1.70169952
27GBX2_23144817_ChIP-Seq_PC3_Human1.68794759
28ESR1_20079471_ChIP-ChIP_T-47D_Human1.63760626
29CHD1_19587682_ChIP-ChIP_MESCs_Mouse1.62658911
30PDX1_19855005_ChIP-ChIP_MIN6_Mouse1.61755599
31TP53_22573176_ChIP-Seq_HFKS_Human1.56509419
32P300_19829295_ChIP-Seq_ESCs_Human1.55864040
33EGR1_23403033_ChIP-Seq_LIVER_Mouse1.53167696
34GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.51008564
35EWS_26573619_Chip-Seq_HEK293_Human1.49852801
36GABP_19822575_ChIP-Seq_HepG2_Human1.48932654
37DCP1A_22483619_ChIP-Seq_HELA_Human1.44615639
38ESR1_15608294_ChIP-ChIP_MCF-7_Human1.41977780
39CEBPA_23403033_ChIP-Seq_LIVER_Mouse1.40610144
40AR_20517297_ChIP-Seq_VCAP_Human1.40410535
41ELK1_19687146_ChIP-ChIP_HELA_Human1.40304216
42NCOR_22424771_ChIP-Seq_293T_Human1.39252208
43PCGF2_27294783_Chip-Seq_ESCs_Mouse1.38677473
44FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse1.35724544
45AUTS2_25519132_ChIP-Seq_293T-REX_Human1.35170079
46SOX2_19829295_ChIP-Seq_ESCs_Human1.34811624
47NANOG_19829295_ChIP-Seq_ESCs_Human1.34811624
48GATA3_21878914_ChIP-Seq_MCF-7_Human1.34422706
49GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.32569202
50IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.31279776
51CBP_20019798_ChIP-Seq_JUKART_Human1.31279776
52ELK1_22589737_ChIP-Seq_MCF10A_Human1.29605867
53MYC_18940864_ChIP-ChIP_HL60_Human1.29032897
54KDM5A_27292631_Chip-Seq_BREAST_Human1.27452175
55EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human1.25662034
56FOXA1_27270436_Chip-Seq_PROSTATE_Human1.25589123
57FOXA1_25329375_ChIP-Seq_VCAP_Human1.25589123
58ELF5_23300383_ChIP-Seq_T47D_Human1.23715675
59AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.23621776
60GATA3_24758297_ChIP-Seq_MCF-7_Human1.21178782
61HIF1A_21447827_ChIP-Seq_MCF-7_Human1.19529491
62RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.18524382
63FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human1.16264684
64PIAS1_25552417_ChIP-Seq_VCAP_Human1.15397186
65POU3F2_20337985_ChIP-ChIP_501MEL_Human1.13018517
66UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.12882097
67CTBP1_25329375_ChIP-Seq_LNCAP_Human1.10188426
68GATA4_25053715_ChIP-Seq_YYC3_Human1.09632275
69TCF4_22108803_ChIP-Seq_LS180_Human1.09214787
70E2F1_21310950_ChIP-Seq_MCF-7_Human1.08650899
71FOXA1_21915096_ChIP-Seq_LNCaP-1F5_Human1.07161771
72TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.06979185
73TCF4_23295773_ChIP-Seq_U87_Human1.06317587
74E2F7_22180533_ChIP-Seq_HELA_Human1.04740917
75HNF4A_19761587_ChIP-ChIP_CACO-2_Human1.04716718
76CEBPB_23403033_ChIP-Seq_LIVER_Mouse1.03886876
77FOXA1_21572438_ChIP-Seq_LNCaP_Human1.03770422
78TAF15_26573619_Chip-Seq_HEK293_Human1.03572983
79ZFP57_27257070_Chip-Seq_ESCs_Mouse1.03402308
80MYC_18358816_ChIP-ChIP_MESCs_Mouse1.03079395
81FOXA1_26743006_Chip-Seq_LNCaP-abl_Human1.01193622
82PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.00475738
83CDX2_22108803_ChIP-Seq_LS180_Human0.99472873
84MYC_19030024_ChIP-ChIP_MESCs_Mouse0.99463027
85YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse0.97688462
86KDM5B_21448134_ChIP-Seq_MESCs_Mouse0.97669164
87CREB1_15753290_ChIP-ChIP_HEK293T_Human0.97090956
88FOXM1_26456572_ChIP-Seq_MCF-7_Human0.97053255
89STAT5_23275557_ChIP-Seq_MAMMARY-EPITHELIUM_Mouse0.94702831
90E2F4_21247883_ChIP-Seq_LYMPHOBLASTOID_Human0.94259586
91E2F1_18555785_ChIP-Seq_MESCs_Mouse0.93212998
92GATA3_22897851_ChIP-Seq_JUKARTE6-1_Human0.92154741
93AR_21915096_ChIP-Seq_LNCaP-1F5_Human0.91882718
94P53_21459846_ChIP-Seq_SAOS-2_Human0.91854524
95MYC_18555785_ChIP-Seq_MESCs_Mouse0.91720280
96TDRD3_21172665_ChIP-Seq_MCF-7_Human0.90953299
97CEBPA_26348894_ChIP-Seq_LIVER_Mouse0.90937246
98SUZ12_27294783_Chip-Seq_NPCs_Mouse0.90563176
99AR_21572438_ChIP-Seq_LNCaP_Human0.89527376
100AR_25329375_ChIP-Seq_VCAP_Human0.89472181

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0003136_yellow_coat_color6.27630683
2MP0000372_irregular_coat_pigmentation6.12776655
3MP0005171_absent_coat_pigmentation5.04548450
4MP0005075_abnormal_melanosome_morpholog4.61332591
5MP0002837_dystrophic_cardiac_calcinosis4.26205278
6MP0004381_abnormal_hair_follicle3.86098601
7MP0005408_hypopigmentation2.76991710
8MP0003646_muscle_fatigue2.73909168
9MP0000015_abnormal_ear_pigmentation2.64498635
10MP0002254_reproductive_system_inflammat2.58190974
11MP0003878_abnormal_ear_physiology2.43309949
12MP0005377_hearing/vestibular/ear_phenot2.43309949
13MP0005174_abnormal_tail_pigmentation2.29822930
14MP0002938_white_spotting2.28634091
15MP0002095_abnormal_skin_pigmentation2.20486633
16MP0004147_increased_porphyrin_level2.19522561
17MP0002653_abnormal_ependyma_morphology1.91773534
18MP0003890_abnormal_embryonic-extraembry1.91546412
19MP0008877_abnormal_DNA_methylation1.83850836
20MP0001324_abnormal_eye_pigmentation1.83105119
21MP0000427_abnormal_hair_cycle1.70859925
22MP0010094_abnormal_chromosome_stability1.66225305
23MP0000371_diluted_coat_color1.59753490
24MP0002075_abnormal_coat/hair_pigmentati1.55937351
25MP0002090_abnormal_vision1.50184927
26MP0005646_abnormal_pituitary_gland1.49816644
27MP0008058_abnormal_DNA_repair1.44953156
28MP0004264_abnormal_extraembryonic_tissu1.42985291
29MP0008057_abnormal_DNA_replication1.39592840
30MP0003045_fibrosis1.39456369
31MP0005187_abnormal_penis_morphology1.38176250
32MP0003693_abnormal_embryo_hatching1.37903131
33MP0010234_abnormal_vibrissa_follicle1.37256869
34MP0003806_abnormal_nucleotide_metabolis1.37162148
35MP0003943_abnormal_hepatobiliary_system1.33322658
36MP0002876_abnormal_thyroid_physiology1.24242781
37MP0001186_pigmentation_phenotype1.22175909
38MP0000647_abnormal_sebaceous_gland1.22137557
39MP0002102_abnormal_ear_morphology1.18103101
40MP0003195_calcinosis1.16484731
41MP0002160_abnormal_reproductive_system1.13284488
42MP0004782_abnormal_surfactant_physiolog1.12141626
43MP0005551_abnormal_eye_electrophysiolog1.11713061
44MP0003718_maternal_effect1.08645389
45MP0000383_abnormal_hair_follicle1.06515646
46MP0010678_abnormal_skin_adnexa1.06014767
47MP0004885_abnormal_endolymph1.05462970
48MP0004133_heterotaxia1.02682444
49MP0008872_abnormal_physiological_respon0.99932185
50MP0005647_abnormal_sex_gland0.99174646
51MP0005365_abnormal_bile_salt0.97864064
52MP0003879_abnormal_hair_cell0.97573322
53MP0005253_abnormal_eye_physiology0.97312790
54MP0000749_muscle_degeneration0.96572274
55MP0010352_gastrointestinal_tract_polyps0.93456286
56MP0001919_abnormal_reproductive_system0.93041202
57MP0005389_reproductive_system_phenotype0.90030505
58MP0003950_abnormal_plasma_membrane0.89967099
59MP0001764_abnormal_homeostasis0.86341268
60MP0002736_abnormal_nociception_after0.84425401
61MP0004957_abnormal_blastocyst_morpholog0.84326575
62MP0010307_abnormal_tumor_latency0.84268671
63MP0003186_abnormal_redox_activity0.83363654
64MP0008932_abnormal_embryonic_tissue0.83327810
65MP0003119_abnormal_digestive_system0.83205396
66MP0005085_abnormal_gallbladder_physiolo0.82539830
67MP0006036_abnormal_mitochondrial_physio0.81626120
68MP0005395_other_phenotype0.78455993
69MP0001873_stomach_inflammation0.77678397
70MP0000377_abnormal_hair_follicle0.75938853
71MP0000569_abnormal_digit_pigmentation0.74128989
72MP0003111_abnormal_nucleus_morphology0.74127799
73MP0002138_abnormal_hepatobiliary_system0.72158324
74MP0008995_early_reproductive_senescence0.72137807
75MP0000579_abnormal_nail_morphology0.69903460
76MP0002139_abnormal_hepatobiliary_system0.69648794
77MP0002168_other_aberrant_phenotype0.69537245
78MP0004233_abnormal_muscle_weight0.69297717
79MP0003937_abnormal_limbs/digits/tail_de0.69012213
80MP0003787_abnormal_imprinting0.68029296
81MP0000516_abnormal_urinary_system0.65886248
82MP0005367_renal/urinary_system_phenotyp0.65886248
83MP0002098_abnormal_vibrissa_morphology0.65387047
84MP0005410_abnormal_fertilization0.64765684
85MP0005319_abnormal_enzyme/_coenzyme0.64380873
86MP0005670_abnormal_white_adipose0.63746450
87MP0002751_abnormal_autonomic_nervous0.62492219
88MP0003137_abnormal_impulse_conducting0.62375366
89MP0002928_abnormal_bile_duct0.60723686
90MP0003786_premature_aging0.59483978
91MP0003941_abnormal_skin_development0.57966327
92MP0001881_abnormal_mammary_gland0.57383807
93MP0002229_neurodegeneration0.57106622
94MP0001119_abnormal_female_reproductive0.56352303
95MP0003077_abnormal_cell_cycle0.55915169
96MP0000653_abnormal_sex_gland0.55003207
97MP0002210_abnormal_sex_determination0.53829391
98MP0000538_abnormal_urinary_bladder0.53234986
99MP0008875_abnormal_xenobiotic_pharmacok0.52840451
100MP0000367_abnormal_coat/_hair0.52803167

Predicted human phenotypes

RankGene SetZ-score
1Congenital stationary night blindness (HP:0007642)4.67860487
2Amelogenesis imperfecta (HP:0000705)4.41869299
3Aplasia/Hypoplasia of the macula (HP:0008059)3.45140220
4Severe visual impairment (HP:0001141)3.44804813
5Parakeratosis (HP:0001036)3.37359771
6Hypoplasia of the fovea (HP:0007750)3.27733320
7Aplasia/Hypoplasia of the fovea (HP:0008060)3.27733320
8Progressive inability to walk (HP:0002505)3.26031091
9Ocular albinism (HP:0001107)3.19304496
10Aplasia/Hypoplasia affecting the retina (HP:0008061)3.18075186
11Chromosomal breakage induced by crosslinking agents (HP:0003221)3.09525858
12Fibular aplasia (HP:0002990)3.07162596
13Abnormality of the renal cortex (HP:0011035)2.99305054
14Iris hypopigmentation (HP:0007730)2.95848734
15Enlarged kidneys (HP:0000105)2.95242753
16Chromsome breakage (HP:0040012)2.93776021
17Tubular atrophy (HP:0000092)2.91965389
18Polydipsia (HP:0001959)2.89494338
19Abnormal drinking behavior (HP:0030082)2.89494338
20Aplasia/Hypoplasia of the uvula (HP:0010293)2.88119991
21Pancreatic cysts (HP:0001737)2.81837885
22Congenital nonbullous ichthyosiform erythroderma (HP:0007479)2.80370261
23Degeneration of anterior horn cells (HP:0002398)2.70702090
24Abnormality of the anterior horn cell (HP:0006802)2.70702090
25Focal motor seizures (HP:0011153)2.66739594
26Abnormality of the fovea (HP:0000493)2.59558040
27Congenital ichthyosiform erythroderma (HP:0007431)2.55701393
28Aplasia/Hypoplasia of the tibia (HP:0005772)2.52923817
29Colon cancer (HP:0003003)2.46284399
30Horizontal nystagmus (HP:0000666)2.40302436
31Short tibia (HP:0005736)2.34844727
32Decreased central vision (HP:0007663)2.34500705
33Albinism (HP:0001022)2.33237991
34Aplastic anemia (HP:0001915)2.29230254
35Volvulus (HP:0002580)2.26632479
36Nephronophthisis (HP:0000090)2.25562087
37Prostate neoplasm (HP:0100787)2.24676807
38Amblyopia (HP:0000646)2.23808448
39Hypokinesia (HP:0002375)2.19505319
40Abnormality of aromatic amino acid family metabolism (HP:0004338)2.19279681
41Inability to walk (HP:0002540)2.18800051
42Generalized hypopigmentation (HP:0007513)2.18229647
43Abnormality of the renal medulla (HP:0100957)2.17802477
44Aplasia/Hypoplasia of the spleen (HP:0010451)2.17185563
45Patchy hypopigmentation of hair (HP:0011365)2.15484364
46Short 1st metacarpal (HP:0010034)2.13713920
47Aplasia/Hypoplasia of the 1st metacarpal (HP:0010026)2.13713920
48Concave nail (HP:0001598)2.12561227
49Polyuria (HP:0000103)2.09312160
50Abnormality of the proximal phalanges of the hand (HP:0009834)2.08595375
51Aplasia/Hypoplasia of the fibula (HP:0006492)2.08591104
52Cutaneous melanoma (HP:0012056)2.08497032
53White forelock (HP:0002211)2.07933542
54Increased CSF lactate (HP:0002490)2.06226782
55Asplenia (HP:0001746)2.05862923
56Stomach cancer (HP:0012126)2.03312858
57Fibular hypoplasia (HP:0003038)2.00955343
58Lipid accumulation in hepatocytes (HP:0006561)2.00369184
59Hypoplasia of the pons (HP:0012110)1.99095734
60Type I transferrin isoform profile (HP:0003642)1.94318184
61Right ventricular cardiomyopathy (HP:0011663)1.94286162
62Dialeptic seizures (HP:0011146)1.93560640
63Abnormality of the ileum (HP:0001549)1.93376842
64Severe muscular hypotonia (HP:0006829)1.91723169
65Meckel diverticulum (HP:0002245)1.90797758
66Recurrent corneal erosions (HP:0000495)1.90788678
67Lip pit (HP:0100267)1.88072111
68Hepatocellular necrosis (HP:0001404)1.87636778
69Visual hallucinations (HP:0002367)1.87149049
70Abnormality of the 1st metacarpal (HP:0010009)1.85833591
71Acute encephalopathy (HP:0006846)1.84799495
72Breast carcinoma (HP:0003002)1.83616641
73Hypomagnesemia (HP:0002917)1.82160595
74Hepatic necrosis (HP:0002605)1.81352101
75Abnormality of the pons (HP:0007361)1.81132099
76Delayed CNS myelination (HP:0002188)1.80678785
77Abnormality of the preputium (HP:0100587)1.79913057
78Increased neuronal autofluorescent lipopigment (HP:0002074)1.79261410
79Decreased number of large peripheral myelinated nerve fibers (HP:0003387)1.78981688
80Abnormal isoelectric focusing of serum transferrin (HP:0003160)1.77871888
81Abnormal protein N-linked glycosylation (HP:0012347)1.77871888
82Abnormal protein glycosylation (HP:0012346)1.77871888
83Abnormal glycosylation (HP:0012345)1.77871888
84Mitochondrial inheritance (HP:0001427)1.77260683
85Tongue fasciculations (HP:0001308)1.76178579
86Hypopigmentation of the fundus (HP:0007894)1.75756912
87Cerebellar dysplasia (HP:0007033)1.74425181
88Renal dysplasia (HP:0000110)1.73234226
89Increased serum lactate (HP:0002151)1.73130681
90Abnormal lung lobation (HP:0002101)1.71372730
91Septate vagina (HP:0001153)1.70653696
92Increased hepatocellular lipid droplets (HP:0006565)1.70105390
93Aplasia/Hypoplasia of the hallux (HP:0008362)1.69953790
94Astigmatism (HP:0000483)1.67909220
95Palpitations (HP:0001962)1.66226319
96Bilateral sensorineural hearing impairment (HP:0008619)1.65978553
97Short thumb (HP:0009778)1.65667838
98Freckling (HP:0001480)1.64905682
99Pendular nystagmus (HP:0012043)1.61016604
100Erythroderma (HP:0001019)1.59490631

Predicted kinase interactions (KEA)

RankGene SetZ-score
1LATS15.42144344
2STK38L4.42049398
3FRK3.51601679
4STK393.49914254
5EIF2AK32.93670196
6LATS22.66000528
7WNK42.59429911
8ZAK2.54397815
9EIF2AK12.42824832
10MST42.34708212
11PRKD32.19699684
12BMPR1B2.15044152
13FER2.13357735
14NLK2.11727208
15MUSK2.01627302
16TRIM281.95375594
17MAP2K21.77180657
18WNK31.74667228
19WEE11.74197711
20NME11.66969444
21MST1R1.61706105
22PLK31.56147221
23ACVR1B1.55096998
24MAP3K121.47179789
25MAP4K21.46087376
26BUB11.34756912
27STK31.29117706
28NEK11.27865911
29GRK11.19926814
30TXK1.17333009
31STK381.17212500
32PRKCI1.16397188
33EPHA21.14350849
34PLK21.14150017
35NME21.13223513
36VRK21.02117457
37FGFR21.00302619
38TTK0.97776036
39TSSK60.97353265
40LMTK20.96882326
41PINK10.95083505
42ADRBK20.94259915
43TNIK0.91088642
44STK160.90821101
45PBK0.84514518
46NUAK10.82371800
47OXSR10.82259132
48BRSK20.82078496
49PDK20.79947108
50PLK10.75828032
51BCKDK0.75172980
52SRPK10.71045216
53EIF2AK20.69738859
54GRK60.68166510
55CSNK1A1L0.65462842
56ATR0.65116381
57CDK30.63885849
58PKN20.58072013
59MAP2K10.57928170
60MKNK20.57574529
61NEK60.57294847
62IRAK10.57248852
63ADRBK10.56984306
64GRK50.56116993
65MELK0.54039832
66PRKAA20.53278949
67PAK40.52959340
68PIK3CA0.52893111
69CHUK0.52756414
70CHEK20.52547765
71BRSK10.52235339
72MAPKAPK30.52104573
73EPHA30.51418186
74FGR0.49457256
75TNK20.49162873
76TGFBR10.48973840
77RPS6KB20.48585630
78AKT20.48510309
79PHKG20.48423308
80PHKG10.48423308
81ERBB30.46911815
82PRKD10.43681714
83VRK10.43117268
84AKT30.40228951
85TAF10.39771383
86CSNK1A10.39708908
87PRKCE0.38532504
88CSNK1D0.38233079
89MET0.38205182
90RPS6KA50.36278707
91CDK70.34871036
92ATM0.34482038
93CSNK2A10.33900271
94RPS6KA40.33210661
95IRAK30.32772771
96IKBKB0.32308952
97MAP2K60.30622291
98DAPK10.29733224
99PLK40.29577000
100CSNK1G30.29188068

Predicted pathways (KEGG)

RankGene SetZ-score
1Phototransduction_Homo sapiens_hsa047442.99515229
2Sphingolipid metabolism_Homo sapiens_hsa006002.80463627
3Proteasome_Homo sapiens_hsa030502.79200401
4One carbon pool by folate_Homo sapiens_hsa006702.57212778
5Protein export_Homo sapiens_hsa030602.40487111
6Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001302.32663858
7Homologous recombination_Homo sapiens_hsa034402.24771574
8Selenocompound metabolism_Homo sapiens_hsa004502.18986885
9Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005632.17024550
10Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005332.14298028
11Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004002.12129896
12Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006012.05269356
13Collecting duct acid secretion_Homo sapiens_hsa049662.03630865
14Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009701.94970342
15Fanconi anemia pathway_Homo sapiens_hsa034601.89511850
16Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030081.86664131
17RNA polymerase_Homo sapiens_hsa030201.75487633
18Cysteine and methionine metabolism_Homo sapiens_hsa002701.73963539
19Valine, leucine and isoleucine degradation_Homo sapiens_hsa002801.73067971
20Oxidative phosphorylation_Homo sapiens_hsa001901.71276999
21Fatty acid elongation_Homo sapiens_hsa000621.69225300
22Cyanoamino acid metabolism_Homo sapiens_hsa004601.65854654
23Basal transcription factors_Homo sapiens_hsa030221.64461175
24Steroid biosynthesis_Homo sapiens_hsa001001.62194829
25Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006031.57331672
26Folate biosynthesis_Homo sapiens_hsa007901.52061923
27RNA degradation_Homo sapiens_hsa030181.50550590
28Butanoate metabolism_Homo sapiens_hsa006501.46238546
29Propanoate metabolism_Homo sapiens_hsa006401.43031861
30Maturity onset diabetes of the young_Homo sapiens_hsa049501.36998115
31Non-homologous end-joining_Homo sapiens_hsa034501.36710411
32Vitamin B6 metabolism_Homo sapiens_hsa007501.34777728
33RNA transport_Homo sapiens_hsa030131.27670569
34Mismatch repair_Homo sapiens_hsa034301.25663516
35Glutathione metabolism_Homo sapiens_hsa004801.23898102
36Regulation of autophagy_Homo sapiens_hsa041401.23633436
37Pyrimidine metabolism_Homo sapiens_hsa002401.17948795
38N-Glycan biosynthesis_Homo sapiens_hsa005101.14537660
39Synthesis and degradation of ketone bodies_Homo sapiens_hsa000721.14206386
40Tyrosine metabolism_Homo sapiens_hsa003501.10886176
41Glycine, serine and threonine metabolism_Homo sapiens_hsa002601.06929509
42Parkinsons disease_Homo sapiens_hsa050121.05132783
43Ether lipid metabolism_Homo sapiens_hsa005651.03858848
44Purine metabolism_Homo sapiens_hsa002301.02308191
45Drug metabolism - cytochrome P450_Homo sapiens_hsa009821.02222687
46Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005201.00295088
47Vitamin digestion and absorption_Homo sapiens_hsa049771.00174074
48Ascorbate and aldarate metabolism_Homo sapiens_hsa000530.99641654
49Tryptophan metabolism_Homo sapiens_hsa003800.99615776
50Vibrio cholerae infection_Homo sapiens_hsa051100.94520838
51Metabolic pathways_Homo sapiens_hsa011000.92482771
52Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.89628135
53Pyruvate metabolism_Homo sapiens_hsa006200.89435781
54Fatty acid metabolism_Homo sapiens_hsa012120.89070664
55Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006300.88858995
56Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.88047644
57DNA replication_Homo sapiens_hsa030300.86469407
58Huntingtons disease_Homo sapiens_hsa050160.86025693
59Histidine metabolism_Homo sapiens_hsa003400.85363847
60Linoleic acid metabolism_Homo sapiens_hsa005910.82217639
61Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.82013420
62Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.81501721
63Phenylalanine metabolism_Homo sapiens_hsa003600.80057395
64Taste transduction_Homo sapiens_hsa047420.79041778
65alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.74659599
66Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.72882151
67Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.71685825
68Steroid hormone biosynthesis_Homo sapiens_hsa001400.70351244
69Pentose and glucuronate interconversions_Homo sapiens_hsa000400.69019676
70Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.66645864
71Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009800.65075561
72Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.64582476
73Biosynthesis of amino acids_Homo sapiens_hsa012300.64030031
742-Oxocarboxylic acid metabolism_Homo sapiens_hsa012100.61526487
75Chemical carcinogenesis_Homo sapiens_hsa052040.61377524
76Nitrogen metabolism_Homo sapiens_hsa009100.60739352
77p53 signaling pathway_Homo sapiens_hsa041150.60602853
78Arginine and proline metabolism_Homo sapiens_hsa003300.59957526
79Cytosolic DNA-sensing pathway_Homo sapiens_hsa046230.58558606
80beta-Alanine metabolism_Homo sapiens_hsa004100.58230275
81Nicotine addiction_Homo sapiens_hsa050330.58193515
82Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049320.56880535
83Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.56852176
84Retinol metabolism_Homo sapiens_hsa008300.56205435
85Nucleotide excision repair_Homo sapiens_hsa034200.54229109
86Fatty acid degradation_Homo sapiens_hsa000710.53107210
87Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.52569830
88Peroxisome_Homo sapiens_hsa041460.52216515
89ABC transporters_Homo sapiens_hsa020100.51345303
90Base excision repair_Homo sapiens_hsa034100.50671609
91Cell cycle_Homo sapiens_hsa041100.50537887
92Caffeine metabolism_Homo sapiens_hsa002320.50068536
93Spliceosome_Homo sapiens_hsa030400.48841847
94Sulfur metabolism_Homo sapiens_hsa009200.48137558
95Ovarian steroidogenesis_Homo sapiens_hsa049130.44819566
96Fatty acid biosynthesis_Homo sapiens_hsa000610.42295799
97Synaptic vesicle cycle_Homo sapiens_hsa047210.42148673
98Dorso-ventral axis formation_Homo sapiens_hsa043200.42063346
99Oocyte meiosis_Homo sapiens_hsa041140.41853829
100TGF-beta signaling pathway_Homo sapiens_hsa043500.41337559

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