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 |
|---|---|---|---|---|---|---|---|---|---|
| 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, | |
| 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 | 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 | - | - | - |
