#INTRODUZIONE A OMIM
http://omim.org/about

#SPIEGA CODICI OMIM
http://omim.org/help/faq#1.2


#INTERROGAZIONE FENOTIPO
http://omim.org/entry/601071
Deafness Recessive


#RICONOSCIMENTO DEL FENOTIPO
http://omim.org/entry/601071


#INDIVIDUAZIONE REGIONE CANDIDATA

http://genome.ucsc.edu/cgi-bin/hgGateway
AFMB346YE5
settare e trascinare le corsie in modo da vedere almeno:
Human mRNAs
UCSC genes
Repeating Elements
Microsatellites
STS Markers


cliccare sulla casella annerita per vedere i dettagli del locus

SEGNARSI L'INIZIO DEL LOCUS
Start: 25611449 

#ESTREMO OPPOSTO DELLA REGIONE CANDIDATA
D2S174
viene restituito STS Marker AFM254VC9
End: 26840145 

chr2:25,600,000-26,900,000

#ESPLORAZIONE FUNZIONE GENICA
cliccare su HADHA

GO Annotations

cliccare su OMIM

#CODICI IUPAC
http://www.bioinformatics.org/sms2/iupac.html


#cliccare SU OTOF

Position: chr2:26,680,071-26,700,910 Size: 20,840 Total Exon Count: 30 Strand: -
Coding Region:

#ZOOMARE SU OTOF

chr2:26,668,614-26,742,256

#SPIEGAZIONE CORSIA UCSC GENES
http://genome.ucsc.edu/cgi-bin/hgTrackUi?hgsid=329616175&c=chr2&g=knownGene


The UCSC Genes track is a set of gene predictions based on data from RefSeq, Genbank, CCDS, UniProt, Rfam, and the tRNA Genes track. The track includes both protein-coding genes and non-coding RNA genes. Both types of genes can produce non-coding transcripts, but non-coding RNA genes do not produce protein-coding transcripts. This is a moderately conservative set of predictions. Transcripts of protein-coding genes require the support of one RefSeq RNA, or one GenBank RNA sequence plus at least one additional line of evidence. Transcripts of non-coding RNA genes require the support of one Rfam or tRNA prediction. Compared to RefSeq, this gene set has generally about 10% more protein-coding genes, approximately four times as many putative non-coding genes, and about twice as many splice variants.

This track in general follows the display conventions for gene prediction tracks. The exons for putative non-coding genes and untranslated regions are represented by relatively thin blocks, while those for coding open reading frames are thicker. The following color key is used:

•Black -- feature has a corresponding entry in the Protein Data Bank (PDB)
•Dark blue -- transcript has been reviewed or validated by either the RefSeq, SwissProt or CCDS staff
•Medium blue -- other RefSeq transcripts
•Light blue -- non-RefSeq transcripts
Position: chr2:26,682,893-26,700,590 Size: 17,698 Coding Exon Count: 28