Table 1.
Putative genes located within 1.3-Mb region in 4p16.3 subtelomere.
| Start | End | Cytogenetic location | Symbol | Description | Model evidence |
|---|---|---|---|---|---|
| 609,373 | 654,571 | 4p16.3 | PDE6B | Phosphodiesterase 6B, cGMP-specific, rod, beta (congenital stationary night blindness 3, autosomal dominant) | Best RefSeq |
| 656,225 | 658,122 | 4p16.3 | ATP5I | ATP synthase, H+ transporting, mitochondrial F0 complex, subunit E | Best RefSeq |
| 661,711 | 665,817 | 4p16.3 | MYL5 | Myosin, light chain 5, regulatory | Best RefSeq |
| 665,618 | 672,973 | 4p16.3 | MFSD7 | Major facilitator superfamily domain containing 7 | mRNA |
| 689,573 | 754,428 | 4p16.3 | PCGF3 | Polycomb group ring finger 3 | Best RefSeq |
| 719,829 | 721,544 | 4p16.3 | LOC100128084 | Hypothetical protein LOC100128084 | mRNA |
| 764,588 | 765,632 | 4p16.3 | LOC100129917 | Hypothetical protein LOC100129917 | mRNA |
| 768,745 | 809,945 | 4p16.3 | CPLX1 | Complexin 1 | mRNA |
| 833,065 | 916,174 | 4p16.3 | GAK | Cyclin G associated kinase | mRNA |
| 916,262 | 942,444 | 4p16.3 | TMEM175 | Transmembrane protein 175 | Best RefSeq |
| 942,675 | 957,344 | 4p16.3 | DGKQ | Diacylglycerol kinase, theta 110 kDa | Best RefSeq |
| 962,861 | 977,224 | 4p16.3 | SLC26A1 | Solute carrier family 26 (sulfate transporter), member 1 | Best RefSeq |
| 970,785 | 988,317 | 4p16.3 | IDUA | Iduronidase, alpha-L- | mRNA |
| 995,610 | 1,010,686 | 4p16.3 | FGFRL1 | Fibroblast growth factor receptor-like 1 | Best RefSeq |
| 1,044,654 | 1,045,386 | 4p16.3 | LOC100132787 | Hypothetical protein LOC100132787 | mRNA |
| 1,055,269 | 1,097,350 | 4p16.3 | RNF212 | Ring finger protein 212 | Best RefSeq |
| 1,116,050 | 1,129,814 | 4p16.3 | LOC100133135 | Hypothetical protein LOC100133135 | Protein |
| 1,135,541 | 1,135,957 | 4p16.3 | FLJ35816 | FLJ35816 protein | Protein |
| 1,149,293 | 1,149,712 | 4p16.3 | LOC100131106 | Hypothetical protein LOC100131106 | Protein |
| 1,150,723 | 1,156,597 | 4p16.3 | SPON2 | Spondin 2, extracellular matrix protein | Best RefSeq |
| 1,184,431 | 1,185,198 | 4p16.3 | LOC100130872 | Hypothetical protein LOC100130872 | mRNA |
| 1,195,228 | 1,232,908 | 4p16.3 | CTBP1 | C-terminal binding protein 1 | Best RefSeq |
| 1,234,177 | 1,236,616 | 4p16.3 | C4orf42 | Chromosome 4 open reading frame 42 | Best RefSeq |
| 1,273,672 | 1,323,925 | 4p16.3 | MAEA | Macrophage erythroblast attacher | Best RefSeq |
| 1,331,104 | 1,371,732 | 4p16.3 | KIAA1530 | KIAA1530 | mRNA |
| 1,375,340 | 1,379,782 | 4p16.3 | CRIPAK | Cysteine-rich PAK1 inhibitor | mRNA |
| 1,380,072 | 1,392,453 | 4p16.3 | NKX1-1 | NK1 homeobox 1 | Protein |
| 1,484,196 | 1,519,086 | 4p16.3 | LOC100133199 | Similar to RE32881p | mRNA |
| 1,611,605 | 1,655,516 | 4p16.3 | FAM53A | Family with sequence similarity 53, member A | Best RefSeq |
| 1,664,325 | 1,683,828 | 4p16.3 | SLBP | Stem-loop (histone) binding protein | Best RefSeq |
| 1,687,477 | 1,692,882 | 4p16.3 | TMEM129 | Transmembrane protein 129 | Best RefSeq |
| 1,693,062 | 1,716,696 | 4p16.3 | TACC3 | Transforming, acidic coiled-coil containing protein 3 | Best RefSeq |
| 1,765,421 | 1,780,396 | 4p16.3 | FGFR3 | Fibroblast growth factor receptor 3 (achondroplasia, thanatophoric dwarfism) | Best RefSeq |
| 1,784,558 | 1,827,772 | 4p16.3 | LETM1 | Leucine zipper-EF-hand containing transmembrane protein 1 | Best RefSeq |