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Table 14 Drosophila tubule as a model for human genetic disease

From: Function-informed transcriptome analysis of Drosophila renal tubule

Gene Affymetrix signal Enrichment Blast probability OMIM reference Human disease Available fly stocks
CG10226 290 ± 25 28.3 1.00E-184 171050 Colchicine resistance  
CG7402 99 ± 4 26.9 2.00E-40 253000 Mucopolysaccharidosis IVA  
Ir 1,302 ± 112 14.2 1.00E-76 600359 Bartter syndrome, antenatal, 601678  
ry 655 ± 44 13.0 1.00E-184 607633 Xanthinuria, type I, 278300  
Ptx1 183 ± 8 12.7 6.00E-38 602669 Anterior segment mesenchymal dysgenesis and cataract, 107250  
Fmo-1 131 ± 11 12.0 9.00E-27 136132 [Fish-odor syndrome], 602079  
CG4484 504 ± 50 12.0 1.00E-49 606202 Oculocutaneous albinism, type IV, 606574  
DS00004.14 759 ± 54 10.6 1.00E-123 603470 Citrullinemia, 215700  
CG9455 355 ± 40 9.0 1.00E-42 107400 Emphysema; emphysema-cirrhosis, hemorrhagic diathesis due to  
CG5582 825 ± 49 8.5 1.00E-69 607042 Ceroid-lipofuscinosis, neuronal-3, juvenile, 204200  
Cyp4d2 1,008 ± 70 8.3 1.00E-27 107910 Gynecomastia, familial, due to increased aromatase activity  
CG7433 1,364 ± 50 7.4 1.00E-153 137150 GABA-transaminase deficiency  
CG1140 894 ± 26 7.3 1.00E-176 245050 Ketoacidosis due to SCOT deficiency  
CG9547 860 ± 34 7.0 1.00E-164 231670 Glutaricaciduria, type I  
PhKgamma 2,665 ± 152 6.9 1.00E-111 172471 Glycogenosis, hepatic, autosomal  
CG4623 382 ± 37 6.8 4.00E-28 606598 Charcot-Marie-Tooth disease, mixed axonal and demyelinating l(3)j7B3
CG12370 203 ± 17 6.7 5.00E-40 138033   
CG15556 221 ± 12 6.4 6.00E-12 602851 Convulsions, familial febrile, 4, 604352  
KCNQ 101 ± 0 6.4 1.00E-108 602235 Epilepsy, benign, neonatal, type 1, 121200; myokymia with neonatal  
CG17119 852 ± 28 5.7 6.00E-74 606272 Cystinosis, atypical nephropathic; cystinosis, late-onset juvenile  
CG7408 168 ± 6 5.6 3.00E-27 300180 Chondrodysplasia punctata, X-linked recessive, 302950  
Spat 724 ± 39 5.1 2.00E-88 604285 Hyperoxaluria, primary, type 1, 259900 EP(x)1365
CG8743 1,001 ± 44 4.9 1.00E-100 605248 Mucolipidosis IV, 252650  
CG14593 59 ± 13 4.9 2.00E-33 131244 ABCD syndrome, 600501; Hirschsprung disease-2, 600155  
CG1673 911 ± 142 4.8 1.00E-100 113530 Hypervalinemia or hyperleucine-isoleucinemia (?)  
Ndae1 531 ± 34 4.7 1.00E-184 603345 Renal tubular acidosis, proximal, with ocular abnormalities, 604278  
CG7834 3441 ± 106 4.3 8.00E-80 130410 Glutaricaciduria, type IIB, 231680 EP(2)2553, l(2)k00405
Pvr 294 ± 26 4.2 6.00E-69 164770 Myeloid malignancy, predisposition to  
CG12030 887 ± 51 4.1 1.00E-124 606953 Galactose epimerase deficiency, 230350  
Mdr49 239 ± 25 4.0 1.00E-184 171060 Cholestasis, familial intrahepatic, of pregnancy, 147480 l(2)k05224
CG4685 563 ± 19 4.0 1.00E-129 271980 Succinic semialdehyde dehydrogenase deficiency EP(2)2545, l(2)k08713
CG12338 774 ± 16 3.9 4.00E-40 124050   
CG12582 183 ± 14 3.8 1.00E-142 248510 Mannosidosis, beta- l(2)k10108
Reg-3 463 ± 24 3.8 1.00E-184 274270 Thymine-uraciluria  
Cyp12c1 73 ± 5 3.8 2.00E-34 124080 Aldosterone to renin ratio raised; hypoaldosteronism, congenital,  
Fur1 724 ± 29 3.7 1.00E-163 162150 Obesity with impaired prohormone processing, 600955  
Cyp9c1 258 ± 14 3.7 7.00E-53 274180 Thromboxane synthase deficiency l(3)05545
Drip 318 ± 16 3.6 1.00E-37 154050 Cataract, polymorphic and lamellar, 604219  
CG8654 274 ± 29 3.6 2.00E-62 607096 Hypouricemia, renal, 220150  
Cyp9f2 1,700 ± 60 3.6 1.00E-69 124010 CYP3A4 promoter polymorphism; CYP3A4-V  
ERR 239 ± 21 3.5 5.00E-29 313700 Androgen insensitivity, 300068; breast cancer, male EP(3)3340
CG3603 94 ± 7 3.4 5.00E-20 222745 DECR deficiency (2) (?)  
CG9232 877 ± 20 3.4 1.00E-118 606999 Galactosemia, 230400  
CG8417 502 ± 31 3.2 3.00E-71 154550 Carbohydrate-deficient glycoprotein syndrome, type Ib, 602579 EP(2)0844, EP(2)2192, EP(2)2358, l(2)05428, l(2)k06503
CG4663 439 ± 14 3.2 2.00E-29 601789 Adrenoleukodystrophy, neonatal, 202370; Zellweger syndrome, 214100  
Cat 4,316 ± 88 3.2 1.00E-184 115500 Acatalasemia  
Prominin-like 308 ± 24 3.0 1.00E-20 604365 Retinal degeneration, autosomal recessive, prominin-related EP(2)0740
  1. Genes that are abundant (Affymetrix signal > 50) and enriched (> 3 times) in tubule, and which are also closely similar (Blast probablility < 10-20) to genes mutated in human genetic diseases, as described in the Homophila database [99]. OMIM reference refers to entries in the Online Mendelian Inheritance in Man database [100].