Genetica

FMR1:
CARACTERISTICAS GENERALES

ENFERMEDADES IMPLICDAS
(CARACTERISTICAS DE LAS ENFERMEDADES)

LOCALIZACIÓN
Nuestro gen se localiza en el cromosoma X, en la región q28 , en la hebra +Inicio:146,993,481 bp from pter |
Final:147,032,645 bp from pter |
Tamaño:39,165 bases |

CARACTERISTICAS:
* Alternative splicing: 8 isoforms:  Q06787-1   Q06787-2   Q06787-3   Q06787-4  Q06787-5   Q06787-6   Q06787-7   Q06787-8   
*
TRASCRITOS:

Se producen 13 transcritos pero sólo 8 codifican para proteínas los 5 restantes no, el estándar es el FMR1-001. Los transcritos se hanproducido tanto por promotores alternativos como por sitios de poliadenilación y splicing alternativos. Los transcritos FMR 004/oo3/001/202/002 tienen el mismo promotor.

TRANSCRITOS

FMR1-001Statistics
Exons: 17 Transcript length: 4,308 bpsTranslation length: 632 residues
Type
Known protein coding

FMR1-002

Statistics
Exons: 10 Transcript length: 1,295 bpsTranslation length: 297residues
Type
Known protein coding

FMR1-003

Statistics
Exons: 16 Transcript length: 3,699 bpsTranslation length: 592 residues
Type
Known protein coding

FMR1-004:

tatistics
Exons: 17Transcript length: 4,234 bpsTranslation length: 607 residues
Type
Known protein coding

FMR1-005

FMR1-201

Statistics
Exons: 16 Transcript length: 4,171 bpsTranslation length: 586 residuesType
Known protein coding

FMR1-202

Statistics
Exons: 17 Transcript length: 1,774 bpsTranslation length: 590 residues
Type
Known protein coding

FMR1-203

Statistics
Exons: 17 Transcriptlength: 2,037 bpsTranslation length: 615 residues
Type
Known protein coding

FMR1-006

Statistics
Exons: 8 Transcript length: 776 bps
Type
Known processed transcript
FMR1-007

StatisticsExons: 4 Transcript length: 470 bps
Type
Known processed transcript

FMR1-008

Statistics
Exons: 2 Transcript length: 541 bps
Type
Known processed transcript

FMR1-009

Statistics...