Bardet-Biedl syndrome 4 [Source:HGNC Symbol;Acc:969]
Chromosome 15: 72,978,527-73,030,347 forward strand.
This transcript has 15 exons, is annotated with 22 domains and features, is associated with 23909 variant alleles and maps to 541 oligo probes.
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 | Protein coding | CCDS10246 | Q96RK4 | NM_033028.4 | Ensembl Canonical, GENCODE basic, |
ENST00000395205.2 | BBS4-201 | 2472 | 527aa | ENSP00000378631.2 | Protein coding | Q96RK4 | - | GENCODE basic, | |
ENST00000542334.1 | BBS4-203 | 1974 | 347aa | ENSP00000445964.1 | Protein coding | CCDS58377 | Q96RK4 | NM_001252678.1 | GENCODE basic, |
ENST00000539603.1 | BBS4-202 | 1876 | 507aa | ENSP00000442492.1 | Protein coding | F5H7I8 | - | GENCODE basic, | |
ENST00000569338.1 | BBS4-016 | 843 | 281aa | ENSP00000456758.1 | Protein coding | H3BSL2 | - | CDS 5' and 3' incomplete, | |
ENST00000566829.1 | BBS4-011 | 551 | 141aa | ENSP00000455958.1 | Protein coding | H3BQV7 | - | CDS 3' incomplete, | |
ENST00000566197.1 | BBS4-013 | 541 | 180aa | ENSP00000457479.1 | Protein coding | - | - | 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 | - | Processed transcript | - | - | - | |
ENST00000569001.1 | BBS4-007 | 349 | No protein | - | Processed transcript | - | - | - | |
ENST00000562219.1 | BBS4-004 | 1004 | No protein | - | Retained intron | - | - | - | |
ENST00000568535.1 | BBS4-014 | 781 | No protein | - | Retained intron | - | - | - | |
ENST00000569151.1 | BBS4-015 | 272 | No protein | - | Retained intron | - | - | - |