Description
tuberous sclerosis 2
Synonyms
LAM, tuberin, PPP1R160
Location
Chromosome 16: 2,047,465-2,088,720 forward strand.
VEGA68:CM000678.2
About this gene
This gene has 27 transcripts (splice variants), 3 orthologues and 2 paralogues.
Transcripts
| Name | Transcript ID | bp | Protein | Translation ID | Biotype | CCDS | UniProt | Flags |
|---|---|---|---|---|---|---|---|---|
| TSC2-001 | OTTHUMT00000250657.2 | 6156 | 1807aa | OTTHUMP00000158940 | <p>Genes and/or transcript that contains an open reading frame (ORF).</p>Protein coding | CCDS10458 | P49815 | |
| TSC2-004 | OTTHUMT00000319842.1 | 5532 | 1784aa | OTTHUMP00000198395 | <p>Genes and/or transcript that contains an open reading frame (ORF).</p>Protein coding | CCDS45384 | - | |
| TSC2-006 | OTTHUMT00000319844.3 | 5434 | 1751aa | OTTHUMP00000198396 | <p>Genes and/or transcript that contains an open reading frame (ORF).</p>Protein coding | CCDS81932 | H3BMQ0 | |
| TSC2-003 | OTTHUMT00000319841.2 | 5421 | 1740aa | OTTHUMP00000198394 | <p>Genes and/or transcript that contains an open reading frame (ORF).</p>Protein coding | CCDS58408 | X5D2U8 | |
| TSC2-017 | OTTHUMT00000434564.1 | 5287 | 1704aa | OTTHUMP00000255506 | <p>Genes and/or transcript that contains an open reading frame (ORF).</p>Protein coding | CCDS81933 | - | |
| TSC2-007 | OTTHUMT00000319845.3 | 5264 | 1692aa | OTTHUMP00000198397 | <p>Genes and/or transcript that contains an open reading frame (ORF).</p>Protein coding | CCDS81934 | - | |
| TSC2-019 | OTTHUMT00000434575.2 | 1687 | 535aa | OTTHUMP00000255510 | <p>Genes and/or transcript that contains an open reading frame (ORF).</p>Protein coding | - | H3BQK4 | 5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete |
| TSC2-009 | OTTHUMT00000319853.3 | 590 | 196aa | OTTHUMP00000255508 | <p>Genes and/or transcript that contains an open reading frame (ORF).</p>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 |
| TSC2-020 | OTTHUMT00000434565.2 | 374 | 125aa | OTTHUMP00000255507 | <p>Genes and/or transcript that contains an open reading frame (ORF).</p>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 |
| TSC2-018 | OTTHUMT00000434568.1 | 1801 | No protein | - | <p>Error in the sequence in a public database (for example UniProtKB, NCBI RefSeq). Annotation is by the <a rel="external" href="http://vega.sanger.ac.uk/info/about/gene_and_transcript_types.html">VEGA/Havana</a> project.</p>Artifact | - | - | |
| TSC2-002 | OTTHUMT00000250658.5 | 5073 | 108aa | OTTHUMP00000158941 | Transcript is thought to undergo nonsense mediated decay, a process which detects nonsense mutations and prevents the expression of truncated or erroneous proteins. Nonsense mediated decay | - | - | |
| TSC2-014 | OTTHUMT00000319858.3 | 577 | 32aa | OTTHUMP00000258543 | Transcript is thought to undergo nonsense mediated decay, a process which detects nonsense mutations and prevents the expression of truncated or erroneous proteins. Nonsense mediated decay | - | - | 5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete |
| TSC2-015 | OTTHUMT00000324879.2 | 563 | 35aa | OTTHUMP00000258542 | Transcript is thought to undergo nonsense mediated decay, a process which detects nonsense mutations and prevents the expression of truncated or erroneous proteins. Nonsense mediated decay | - | - | 5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete |
| TSC2-021 | OTTHUMT00000434567.1 | 542 | 30aa | OTTHUMP00000255509 | Transcript is thought to undergo nonsense mediated decay, a process which detects nonsense mutations and prevents the expression of truncated or erroneous proteins. Nonsense mediated decay | - | - | 5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete |
| TSC2-024 | OTTHUMT00000434572.1 | 767 | No protein | - | <p>Transcripts that don't contain an open reading frame (ORF) and cannot be placed in one of the other categories.</p>Processed transcript | - | - | |
| TSC2-027 | OTTHUMT00000434570.1 | 589 | No protein | - | <p>Transcripts that don't contain an open reading frame (ORF) and cannot be placed in one of the other categories.</p>Processed transcript | - | - | |
| TSC2-005 | OTTHUMT00000319843.2 | 3248 | No protein | - | <p>Alternatively spliced transcript that is believed to contain intronic sequence relative to other coding transcripts in a given locus.</p>Retained intron | - | - | |
| TSC2-016 | OTTHUMT00000434574.1 | 2621 | No protein | - | <p>Alternatively spliced transcript that is believed to contain intronic sequence relative to other coding transcripts in a given locus.</p>Retained intron | - | - | |
| TSC2-008 | OTTHUMT00000319852.2 | 1071 | No protein | - | <p>Alternatively spliced transcript that is believed to contain intronic sequence relative to other coding transcripts in a given locus.</p>Retained intron | - | - | |
| TSC2-013 | OTTHUMT00000319857.1 | 842 | No protein | - | <p>Alternatively spliced transcript that is believed to contain intronic sequence relative to other coding transcripts in a given locus.</p>Retained intron | - | - | |
| TSC2-026 | OTTHUMT00000434566.1 | 636 | No protein | - | <p>Alternatively spliced transcript that is believed to contain intronic sequence relative to other coding transcripts in a given locus.</p>Retained intron | - | - | |
| TSC2-010 | OTTHUMT00000319854.1 | 600 | No protein | - | <p>Alternatively spliced transcript that is believed to contain intronic sequence relative to other coding transcripts in a given locus.</p>Retained intron | - | - | |
| TSC2-012 | OTTHUMT00000319856.1 | 567 | No protein | - | <p>Alternatively spliced transcript that is believed to contain intronic sequence relative to other coding transcripts in a given locus.</p>Retained intron | - | - | |
| TSC2-025 | OTTHUMT00000434573.1 | 555 | No protein | - | <p>Alternatively spliced transcript that is believed to contain intronic sequence relative to other coding transcripts in a given locus.</p>Retained intron | - | - | |
| TSC2-023 | OTTHUMT00000434571.1 | 553 | No protein | - | <p>Alternatively spliced transcript that is believed to contain intronic sequence relative to other coding transcripts in a given locus.</p>Retained intron | - | - | |
| TSC2-011 | OTTHUMT00000319855.1 | 482 | No protein | - | <p>Alternatively spliced transcript that is believed to contain intronic sequence relative to other coding transcripts in a given locus.</p>Retained intron | - | - | |
| TSC2-022 | OTTHUMT00000434569.1 | 422 | No protein | - | <p>Alternatively spliced transcript that is believed to contain intronic sequence relative to other coding transcripts in a given locus.</p>Retained intron | - | - |
