Description
fibrillin 1 [Source:HGNC Symbol;Acc:3603]
Gene Synonyms
ACMICD, ECTOL1, FBN, GPHYSD2, MASS, MFS1, OCTD, SGS, SSKS, WMS, WMS2
Location
Chromosome 15: 48,700,503-48,938,046 reverse strand.
GRCh37:CM000677.1
About this gene
This gene has 8 transcripts (splice variants), 7 paralogues and is associated with 22 phenotypes.
Transcripts
| Transcript ID | Name | bp | Protein | Translation ID | Biotype | CCDS | UniProt Match | RefSeq | Flags |
|---|---|---|---|---|---|---|---|---|---|
| ENST00000316623.5 | FBN1-001 | 11756 | 2871aa | ENSP00000325527.5 | Protein coding | CCDS32232 | H0YN80 P35555 Q75N88 Q75N89 | NM_000138.4 | GENCODE basic, |
| ENST00000560355.1 | FBN1-002 | 4109 | 55aa | ENSP00000453901.1 | Protein coding | H0YN80 | - | GENCODE basic, | |
| ENST00000559133.1 | FBN1-004 | 4901 | 853aa | ENSP00000453958.1 | Nonsense mediated decay | - | - | CDS 5' incomplete, | |
| ENST00000537463.2 | FBN1-003 | 3766 | 302aa | ENSP00000440294.2 | Nonsense mediated decay | F6U495 H0YN80 Q75N89 | - | - | |
| ENST00000561429.1 | FBN1-009 | 660 | No protein | - | Processed transcript | - | - | - | |
| ENST00000558230.1 | FBN1-006 | 482 | No protein | - | Processed transcript | - | - | - | |
| ENST00000560720.1 | FBN1-008 | 686 | No protein | - | Retained intron | - | - | - | |
| ENST00000560820.1 | FBN1-007 | 579 | No protein | - | Retained intron | - | - | - |
