Description
Bardet-Biedl syndrome 4 [Source:HGNC Symbol;Acc:969]
Location
Chromosome 15: 72,978,858-73,030,816 forward strand.
About this transcript
This transcript has 16 exons, is annotated with 31 domains and features, is associated with 23950 variant alleles and maps to 571 oligo probes.
Gene
This transcript is a product of gene ENSG00000140463.9 Show transcript tableHide transcript table
| Transcript ID | Name | bp | Protein | Translation ID | Biotype | CCDS | UniProt Match | RefSeq | Flags |
|---|---|---|---|---|---|---|---|---|---|
| ENST00000268057.4 | BBS4-001 | 2490 | 519aa | ENSP00000268057.4 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS10246 | Q96RK4 | NM_033028.4 | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, |
| ENST00000395205.2 | BBS4-201 | 2472 | 527aa | ENSP00000378631.2 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | Q96RK4 | - | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, | |
| ENST00000542334.1 | BBS4-203 | 1974 | 347aa | ENSP00000445964.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS58377 | Q96RK4 | NM_001252678.1 | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, |
| ENST00000539603.1 | BBS4-202 | 1876 | 507aa | ENSP00000442492.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | F5H7I8 | - | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, | |
| ENST00000569338.1 | BBS4-016 | 843 | 281aa | ENSP00000456758.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | H3BSL2 | - | 5' and 3' truncations in transcript evidence prevent annotation of the start and the end of the CDS.CDS 5' and 3' incomplete, | |
| ENST00000566829.1 | BBS4-011 | 551 | 141aa | ENSP00000455958.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | H3BQV7 | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, | |
| ENST00000566197.1 | BBS4-013 | 541 | 180aa | ENSP00000457479.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | - | - | 5' and 3' truncations in transcript evidence prevent annotation of the start and the end of the CDS.CDS 5' and 3' incomplete, | |
| ENST00000566400.1 | BBS4-003 | 2055 | 20aa | ENSP00000456759.1 | Nonsense mediated decay | H3BRY9 | - | - | |
| ENST00000567279.1 | BBS4-002 | 1876 | 67aa | ENSP00000456664.1 | Nonsense mediated decay | H3BSE2 | - | - | |
| ENST00000562084.1 | BBS4-005 | 1864 | 77aa | ENSP00000454718.1 | Nonsense mediated decay | H3BN76 | - | - | |
| ENST00000561914.1 | BBS4-008 | 777 | 103aa | ENSP00000457795.1 | Nonsense mediated decay | H3BUU1 | - | - | |
| ENST00000565160.1 | BBS4-017 | 681 | 142aa | ENSP00000455412.1 | Nonsense mediated decay | H3BPP7 | - | - | |
| ENST00000569440.1 | BBS4-009 | 579 | 33aa | ENSP00000457958.1 | Nonsense mediated decay | H3BV56 | - | - | |
| ENST00000566938.1 | BBS4-019 | 563 | 20aa | ENSP00000456463.1 | Nonsense mediated decay | H3BRY9 | - | - | |
| ENST00000563600.1 | BBS4-010 | 557 | 50aa | ENSP00000457753.1 | Nonsense mediated decay | H3BUQ7 | - | - | |
| ENST00000564239.1 | BBS4-012 | 527 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
| ENST00000569001.1 | BBS4-007 | 349 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
| ENST00000562219.1 | BBS4-004 | 1004 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000568535.1 | BBS4-014 | 781 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000569151.1 | BBS4-015 | 272 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - |