Description
fibulin 1 [Source:HGNC Symbol;Acc:3600]
Gene Synonyms
FBLN, FIBL1
Location
Chromosome 22: 45,898,118-45,997,015 forward strand.
GRCh37:CM000684.1
About this gene
This gene has 19 transcripts (splice variants), 14 paralogues and is associated with 5 phenotypes.
Transcripts
| Transcript ID | Name | bp | Protein | Translation ID | Biotype | CCDS | UniProt Match | RefSeq | Flags |
|---|---|---|---|---|---|---|---|---|---|
| ENST00000327858.6 | FBLN1-001 | 2896 | 703aa | ENSP00000331544.6 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS14067 | B1AHM5 B1AHM6 B1AHM7 P23142 | NM_006486.2 | A single transcript chosen for a gene which is the most conserved, most highly expressed, has the longest coding sequence and is represented in other key resources, such as NCBI and UniProt. This is defined in detail on http://www.ensembl.org/info/genome/genebuild/canonical.htmlEnsembl Canonical, The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, |
| ENST00000348697.2 | FBLN1-201 | 2947 | 703aa | ENSP00000262723.5 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | B1AHL4 B1AHM5 B1AHM6 B1AHM7 F8W7M9 | - | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, | |
| ENST00000442170.2 | FBLN1-004 | 2531 | 601aa | ENSP00000393812.2 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS14068 | B1AHL4 B1AHM5 B1AHM6 B1AHM7 | NM_006485.3 | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, |
| ENST00000402984.3 | FBLN1-002 | 2355 | 721aa | ENSP00000385521.3 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | B1AHL2 | - | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, | |
| ENST00000340923.5 | FBLN1-019 | 2348 | 566aa | ENSP00000342212.5 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS43028 | B1AHM5 B1AHM6 B1AHM7 P23142 | NM_006487.2 | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, |
| ENST00000262722.7 | FBLN1-003 | 2251 | 683aa | ENSP00000262722.7 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS14069 | B1AHM5 B1AHM6 B1AHM7 P23142 | NM_001996.3 | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, |
| ENST00000455233.1 | FBLN1-005 | 671 | 172aa | ENSP00000402963.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | B1AHM5 B1AHM6 B1AHN3 | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, | |
| ENST00000439835.1 | FBLN1-007 | 572 | 26aa | ENSP00000395329.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | B1AHM5 | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, | |
| ENST00000411478.1 | FBLN1-008 | 568 | 189aa | ENSP00000415289.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | B1AHM5 B1AHM6 B1AHM7 B1AHM9 | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, | |
| ENST00000454279.1 | FBLN1-010 | 565 | 139aa | ENSP00000414584.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | B1AHM5 B1AHM6 B1AHM7 | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, | |
| ENST00000451475.1 | FBLN1-011 | 544 | 181aa | ENSP00000415160.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | B1AHM8 | - | 5' and 3' truncations in transcript evidence prevent annotation of the start and the end of the CDS.CDS 5' and 3' incomplete, | |
| ENST00000445110.1 | FBLN1-006 | 512 | 65aa | ENSP00000404024.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | B1AHM5 B1AHM6 | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, | |
| ENST00000450975.1 | FBLN1-009 | 459 | 70aa | ENSP00000396084.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | B1AHM4 | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, | |
| ENST00000437711.1 | FBLN1-012 | 753 | 183aa | ENSP00000401077.1 | Nonsense mediated decay | - | - | 5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete, | |
| ENST00000476366.1 | FBLN1-016 | 872 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
| ENST00000460300.1 | FBLN1-018 | 442 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
| ENST00000460538.1 | FBLN1-013 | 543 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000465578.1 | FBLN1-014 | 481 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000484531.1 | FBLN1-015 | 350 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - |
