Description
fibrillin 1
Synonyms
OCTD, MASS, SGS
Location
Chromosome 15: 48,408,306-48,645,849 reverse strand.
VEGA68:CM000677.2
About this gene
This gene has 9 transcripts (splice variants).
Transcripts
| Name | Transcript ID | bp | Protein | Translation ID | Biotype | CCDS | UniProt | Flags |
|---|---|---|---|---|---|---|---|---|
| FBN1-001 | OTTHUMT00000417355.2 | 11756 | 2871aa | OTTHUMP00000247869 | <p>Genes and/or transcript that contains an open reading frame (ORF).</p>Protein coding | CCDS32232 | P35555 | |
| FBN1-002 | OTTHUMT00000417362.1 | 4109 | 55aa | OTTHUMP00000247872 | <p>Genes and/or transcript that contains an open reading frame (ORF).</p>Protein coding | - | H0YN80 | |
| FBN1-005 | OTTHUMT00000417357.1 | 1335 | No protein | - | <p>Error in the sequence in a public database (for example UniProtKB, NCBI RefSeq). Annotation is by the <a rel="external" href="http://vega.sanger.ac.uk/info/about/gene_and_transcript_types.html">VEGA/Havana</a> project.</p>Artifact | - | - | |
| FBN1-004 | OTTHUMT00000417356.1 | 4901 | 853aa | OTTHUMP00000247870 | Transcript is thought to undergo nonsense mediated decay, a process which detects nonsense mutations and prevents the expression of truncated or erroneous proteins. Nonsense mediated decay | - | H0YND0 | 5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete |
| FBN1-003 | OTTHUMT00000417360.1 | 3766 | 302aa | OTTHUMP00000247871 | Transcript is thought to undergo nonsense mediated decay, a process which detects nonsense mutations and prevents the expression of truncated or erroneous proteins. Nonsense mediated decay | - | F6U495 | |
| FBN1-009 | OTTHUMT00000417358.1 | 660 | No protein | - | <p>Transcripts that don't contain an open reading frame (ORF) and cannot be placed in one of the other categories.</p>Processed transcript | - | - | |
| FBN1-006 | OTTHUMT00000417363.1 | 482 | No protein | - | <p>Transcripts that don't contain an open reading frame (ORF) and cannot be placed in one of the other categories.</p>Processed transcript | - | - | |
| FBN1-008 | OTTHUMT00000417359.1 | 686 | No protein | - | <p>Alternatively spliced transcript that is believed to contain intronic sequence relative to other coding transcripts in a given locus.</p>Retained intron | - | - | |
| FBN1-007 | OTTHUMT00000417361.1 | 579 | No protein | - | <p>Alternatively spliced transcript that is believed to contain intronic sequence relative to other coding transcripts in a given locus.</p>Retained intron | - | - |
