Table 1.
List of genes included in the duplicated region in case III:1. Generated with NCBI Map Viewer (http://www.ncbi.nlm.nih.gov/projects/mapview/).
| List of genes included within duplication region in case III:1 | ||||
|---|---|---|---|---|
| Start1 | Stop1 | Gene Symbol | Description | Known role in disease |
| 88343728 | 88380606 | NUDT9 | nudix (nucleoside diphosphate linked moiety X)-type motif 9 | NA |
| 88394487 | 88450655 | SPARCL1 | SPARC-like 1 (hevin) | NA |
| 88529681 | 88538025 | DSPP | dentin sialophosphoprotein | dentinogenesis imperfecta-148,49 |
| 88571454 | 88585513 | DMP1 | dentin matrix acidic phosphoprotein 1 | Autosomal recessive hypophosphatemia50 |
| 88707075 | 88707514 | CHCHD2P7 | coiled-coil-helix-coiled-coil-helix domain containing 2 pseudogene 7 | NA |
| 88720702 | 88733601 | IBSP | integrin-binding sialoprotein | NA |
| 88742563 | 88767969 | MEPE | matrix extracellular phosphoglycoprotein | NA |
| 88812995 | 88815167 | HSP90AB3P | heat shock protein 90kDa alpha (cytosolic), class B member 3, pseudogene | NA |
| 88896802 | 88904563 | SPP1 | secreted phosphoprotein 1 | NA |
| 88928799 | 88998931 | PKD2 | polycystic kidney disease 2 (autosomal dominant) | Autosomal dominant polycystic kidney disease (ADPKD) 51 |
| 89011416 | 89152474 | ABCG2 | ATP-binding cassette, sub-family G (WHITE), member 2 | NA |
| 89084691 | 89085162 | RPL31P24 | ribosomal protein L31 pseudogene 24 | NA |
| 89178761 | 89205983 | PPM1K | protein phosphatase, Mg2+/Mn2+ dependent, 1K | NA |
| 89299891 | 89364249 | HERC6 | HECT and RLD domain containing E3 ubiquitin protein ligase family member 6 | NA |
| 89378268 | 89427321 | HERC5 | HECT and RLD domain containing E3 ubiquitin protein ligase 5 | NA |
| 89428154 | 89431638 | LOC728333 | nuclear receptor coactivator 4 pseudogene | NA |
| 89442129 | 89444952 | PIGY | phosphatidylinositol glycan anchor biosynthesis, class Y | NA |
| 89442129 | 89444952 | PYURF | PIGY upstream reading frame | NA |
| 89448713 | 89449318 | LOC100129137 | CD53 molecule pseudogene | NA |
| 89513647 | 89629686 | HERC3 | HECT and RLD domain containing E3 ubiquitin protein ligase 3 | NA |
| 89605999 | 89606105 | RNU6-33P | RNA, U6 small nuclear 33, pseudogene | NA |
| 89617066 | 89619023 | NAP1L5 | nucleosome assembly protein 1-like 5 | NA |
| 89630940 | 89651254 | FAM13A-AS1 | FAM13A antisense RNA 1 | NA |
| 89647105 | 89978346 | FAM13A | family with sequence similarity 13, member A | NA |
| 90031864 | 90033424 | LOC731282 | uncharacterized LOC731282 | NA |
| 90033968 | 90036052 | TIGD2 | tigger transposable element derived 2 | NA |
| 90165429 | 90229161 | GPRIN3 | GPRIN family member 3 | NA |
| 90645250 | 90759447 | SNCA | synuclein, alpha | PD 2 |
| 90757552 | 90763142 | LOC644248 | uncharacterized LOC644248 | NA |
| 90816052 | 90875780 | MMRN1 | multimerin 1 | NA |
| 91048684 | 92523370 | CCSER1 | coiled-coil serine-rich protein 1 | NA |
| 91759636 | 91760266 | TMSB4XP8 | thymosin beta 4, X-linked pseudogene 8 | NA |
| 93103426 | 93105206 | LOC133083 | peptidase (mitochondrial processing) alpha pseudogene | NA |
| 93225550 | 94693649 | GRID2 | glutamate receptor, ionotropic, delta 2 | Cerebellar ataxia 52 |
| 93623496 | 93623786 | MTND1P19 | MT-ND1 pseudogene 19 | NA |
| 93743117 | 93744164 | LOC100422562 | guanine nucleotide binding protein (G protein), beta polypeptide 2-like 1 pseudogene | NA |
| 94750078 | 94751142 | ATOH1 | atonal homolog 1 (Drosophila) | NA |
1
Base pairs, HB37