titin [Source:HGNC Symbol;Acc:HGNC:12403]
CMD1G, CMH9, CMPD4, FLJ32040, LGMD2J, MYLK5, TMD
Chromosome 2: 178,525,989-178,830,802 reverse strand.
GRCh38:CM000664.2
This gene has 15 transcripts (splice variants), 170 orthologues and is associated with 21 phenotypes.
| Transcript ID | Name | bp | Protein | Translation ID | Biotype | CCDS | UniProt Match | RefSeq Match | Flags |
|---|---|---|---|---|---|---|---|---|---|
| ENST00000589042.5 | TTN-213 | 109224 | 35991aa | ENSP00000467141.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS59435 | A0A0A0MTS7 | NM_001267550.2 | The Matched Annotation from NCBI and EMBL-EBI is a collaboration between Ensembl/GENCODE and RefSeq. The MANE Select is a default transcript per human gene that is representative of biology, well-supported, expressed and highly-conserved. This transcript set matches GRCh38 and is 100% identical between RefSeq and Ensembl/GENCODE for 5' UTR, CDS, splicing and 3'UTR.MANE Select, 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, The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, APPRIS P2: Where the APPRIS core modules are unable to choose a clear principal variant (approximately 25% of human protein coding genes), the database chooses two or more of the CDS variants as "candidates" to be the principal variant. APPRIS is a system to annotate alternatively spliced transcripts based on a range of computational methods to identify the most functionally important transcript(s) of a gene. APPRIS P2,TSL 5: A transcript where no single transcript supports the model structure. The Transcript Support Level (TSL) is a method to highlight the well-supported and poorly-supported transcript models for users, based on the type and quality of the alignments used to annotate the transcript. TSL:5, |
| ENST00000412264.2 | TTN-205 | 109488 | 35991aa | ENSP00000394672.2 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS59435 | C9JQJ2 | - | APPRIS P2: Where the APPRIS core modules are unable to choose a clear principal variant (approximately 25% of human protein coding genes), the database chooses two or more of the CDS variants as "candidates" to be the principal variant. APPRIS is a system to annotate alternatively spliced transcripts based on a range of computational methods to identify the most functionally important transcript(s) of a gene. APPRIS P2,TSL 3: A transcript where the only support is from a single EST The Transcript Support Level (TSL) is a method to highlight the well-supported and poorly-supported transcript models for users, based on the type and quality of the alignments used to annotate the transcript. TSL:3, |
| ENST00000425332.3 | TTN-206 | 109140 | 35963aa | ENSP00000396805.3 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | H7C0U7 | - | APPRIS ALT2: For genes in which the APPRIS core modules are unable to choose a clear principal isoform, the ALT1 is the candidate transcript(s) models that appear to be conserved in fewer than three tested species. APPRIS is a system to annotate alternatively spliced transcripts based on a range of computational methods to identify the most functionally important transcript(s) of a gene. APPRIS ALT2,TSL 5: A transcript where no single transcript supports the model structure. The Transcript Support Level (TSL) is a method to highlight the well-supported and poorly-supported transcript models for users, based on the type and quality of the alignments used to annotate the transcript. TSL:5, | |
| ENST00000446966.2 | TTN-209 | 109068 | 35939aa | ENSP00000408004.2 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | A0A1B0GXE3 | - | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, APPRIS ALT2: For genes in which the APPRIS core modules are unable to choose a clear principal isoform, the ALT1 is the candidate transcript(s) models that appear to be conserved in fewer than three tested species. APPRIS is a system to annotate alternatively spliced transcripts based on a range of computational methods to identify the most functionally important transcript(s) of a gene. APPRIS ALT2,TSL 1: A transcript where all splice junctions are supported by at least one non-suspect mRNA. The Transcript Support Level (TSL) is a method to highlight the well-supported and poorly-supported transcript models for users, based on the type and quality of the alignments used to annotate the transcript. TSL:1, | |
| ENST00000436599.2 | TTN-208 | 108948 | 35899aa | ENSP00000405517.2 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | A0A0C4DG59 | - | TSL 1: A transcript where all splice junctions are supported by at least one non-suspect mRNA. The Transcript Support Level (TSL) is a method to highlight the well-supported and poorly-supported transcript models for users, based on the type and quality of the alignments used to annotate the transcript. TSL:1, | |
| ENST00000715174.1 | TTN-216 | 108810 | 35853aa | ENSP00000520370.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | - | - | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, | |
| ENST00000426232.6 | TTN-207 | 108666 | 35805aa | ENSP00000392336.2 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | H0Y4J7 | - | APPRIS ALT2: For genes in which the APPRIS core modules are unable to choose a clear principal isoform, the ALT1 is the candidate transcript(s) models that appear to be conserved in fewer than three tested species. APPRIS is a system to annotate alternatively spliced transcripts based on a range of computational methods to identify the most functionally important transcript(s) of a gene. APPRIS ALT2,TSL 1: A transcript where all splice junctions are supported by at least one non-suspect mRNA. The Transcript Support Level (TSL) is a method to highlight the well-supported and poorly-supported transcript models for users, based on the type and quality of the alignments used to annotate the transcript. TSL:1, | |
| ENST00000591111.5 | TTN-214 | 104301 | 34350aa | ENSP00000465570.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | Q8WZ42-1 | - | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, TSL 5: A transcript where no single transcript supports the model structure. The Transcript Support Level (TSL) is a method to highlight the well-supported and poorly-supported transcript models for users, based on the type and quality of the alignments used to annotate the transcript. TSL:5, | |
| ENST00000342992.11 | TTN-202 | 101520 | 33423aa | ENSP00000343764.6 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS54424 | Q8WZ42-11 | - | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, TSL 5: A transcript where no single transcript supports the model structure. The Transcript Support Level (TSL) is a method to highlight the well-supported and poorly-supported transcript models for users, based on the type and quality of the alignments used to annotate the transcript. TSL:5, |
| ENST00000342175.12 | TTN-201 | 82380 | 27118aa | ENSP00000340554.6 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS54422 | A0A0A0MRA3 | - | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, TSL 5: A transcript where no single transcript supports the model structure. The Transcript Support Level (TSL) is a method to highlight the well-supported and poorly-supported transcript models for users, based on the type and quality of the alignments used to annotate the transcript. TSL:5, |
| ENST00000359218.11 | TTN-203 | 82179 | 27051aa | ENSP00000352154.5 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS54423 | Q8WZ42-10 | - | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, TSL 5: A transcript where no single transcript supports the model structure. The Transcript Support Level (TSL) is a method to highlight the well-supported and poorly-supported transcript models for users, based on the type and quality of the alignments used to annotate the transcript. TSL:5, |
| ENST00000460472.6 | TTN-211 | 82029 | 26926aa | ENSP00000434586.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS54421 | Q8WZ42-3 | - | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, TSL 5: A transcript where no single transcript supports the model structure. The Transcript Support Level (TSL) is a method to highlight the well-supported and poorly-supported transcript models for users, based on the type and quality of the alignments used to annotate the transcript. TSL:5, |
| ENST00000360870.10 | TTN-204 | 18220 | 5604aa | ENSP00000354117.4 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS33337 | Q8WZ42-6 | NM_133379.5 | Transcripts in the MANE Plus Clinical set are additional transcripts per locus necessary to support clinical variant reporting, for example transcripts containing known Pathogenic or Likely Pathogenic clinical variants not reportable using the MANE Select set. Note there may be additional clinically relevant transcripts in the wider RefSeq and Ensembl/GENCODE sets but not yet in MANE.MANE Plus Clinical, The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, TSL 5: A transcript where no single transcript supports the model structure. The Transcript Support Level (TSL) is a method to highlight the well-supported and poorly-supported transcript models for users, based on the type and quality of the alignments used to annotate the transcript. TSL:5, |
| ENST00000634225.2 | TTN-215 | 11137 | 3442aa | ENSP00000489532.2 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | A0A0U1RRH3 | - | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, TSL 5: A transcript where no single transcript supports the model structure. The Transcript Support Level (TSL) is a method to highlight the well-supported and poorly-supported transcript models for users, based on the type and quality of the alignments used to annotate the transcript. TSL:5, | |
| ENST00000470257.1 | TTN-212 | 2116 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | TSL 1: A transcript where all splice junctions are supported by at least one non-suspect mRNA. The Transcript Support Level (TSL) is a method to highlight the well-supported and poorly-supported transcript models for users, based on the type and quality of the alignments used to annotate the transcript. TSL:1, |
