Description
tuberous sclerosis 2 [Source:HGNC Symbol;Acc:12363]
Gene Synonyms
LAM, TSC4, tuberin
Location
Chromosome 16: 2,097,466-2,138,716 forward strand.
GRCh37:CM000678.1
About this gene
This gene has 27 transcripts (splice variants), 2 paralogues and is associated with 107 phenotypes.
Transcripts
| Transcript ID | Name | bp | Protein | Translation ID | Biotype | CCDS | UniProt Match | RefSeq | Flags |
|---|---|---|---|---|---|---|---|---|---|
| ENST00000219476.3 | TSC2-001 | 6156 | 1807aa | ENSP00000219476.3 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS10458 | P49815 | NM_000548.3 | 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, A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic, |
| ENST00000350773.4 | TSC2-004 | 5532 | 1784aa | ENSP00000344383.4 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS45384 | P49815 | NM_001114382.1 | A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic, |
| ENST00000353929.4 | TSC2-201 | 5502 | 1764aa | ENSP00000248099.4 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | P49815 | - | A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic, | |
| ENST00000568454.1 | TSC2-006 | 5429 | 1751aa | ENSP00000454487.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | H3BMQ0 | - | A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic, | |
| ENST00000401874.2 | TSC2-003 | 5421 | 1740aa | ENSP00000384468.2 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS58408 | P49815 | NM_001077183.1 | A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic, |
| ENST00000439673.2 | TSC2-017 | 5287 | 1704aa | ENSP00000399232.2 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | P49815 | - | A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic, | |
| ENST00000382538.6 | TSC2-007 | 5264 | 1692aa | ENSP00000371978.6 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | B4DIL8 | - | A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic, | |
| ENST00000569110.1 | TSC2-019 | 1687 | 535aa | ENSP00000455817.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | - | - | 5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete, | |
| ENST00000467949.1 | TSC2-009 | 590 | 196aa | ENSP00000454997.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | H3BNT5 | - | 5' and 3' truncations in transcript evidence prevent annotation of the start and the end of the CDS.CDS 5' and 3' incomplete, | |
| ENST00000432909.2 | TSC2-020 | 374 | 125aa | ENSP00000387937.2 | 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, | |
| ENST00000439117.2 | TSC2-002 | 5073 | 108aa | ENSP00000406980.2 | Nonsense mediated decay | Q5HYF7 | - | - | |
| ENST00000471143.1 | TSC2-014 | 577 | 32aa | ENSP00000458541.1 | Nonsense mediated decay | - | - | 5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete, | |
| ENST00000483020.1 | TSC2-015 | 563 | 35aa | ENSP00000460310.1 | Nonsense mediated decay | I3L3B1 | - | 5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete, | |
| ENST00000568566.1 | TSC2-021 | 542 | 30aa | ENSP00000455997.1 | Nonsense mediated decay | H3BQY7 | - | 5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete, | |
| ENST00000568366.1 | TSC2-024 | 767 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
| ENST00000562474.1 | TSC2-027 | 589 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
| ENST00000497886.1 | TSC2-005 | 3248 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000569930.1 | TSC2-016 | 2621 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000461648.2 | TSC2-008 | 1071 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000463808.1 | TSC2-013 | 842 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000568692.1 | TSC2-026 | 636 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000463601.1 | TSC2-010 | 600 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000488675.1 | TSC2-012 | 567 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000561695.1 | TSC2-025 | 555 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000563346.1 | TSC2-023 | 553 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000490108.1 | TSC2-011 | 482 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000568238.1 | TSC2-022 | 422 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - |
