otoferlin [Source:HGNC Symbol;Acc:HGNC:8515]
DFNB6, DFNB9, FER1L2
Chromosome 2: 26,457,204-26,558,678 reverse strand.
This transcript has 46 exons, is annotated with 62 domains and features, is associated with 48404 variant alleles and maps to 1027 oligo probes.
This transcript is a product of gene ENSG00000115155.19 Show transcript tableHide transcript table
| Transcript ID | Name | bp | Protein | Translation ID | Biotype | CCDS | UniProt Match | RefSeq Match | Flags |
|---|---|---|---|---|---|---|---|---|---|
| ENST00000272371.7 | OTOF-201 | 7214 | 1997aa | ENSP00000272371.2 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS1725 | Q9HC10-1 | NM_194248.3 | 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 ALT1: 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 is conserved in at least 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 ALT1,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, |
| ENST00000403946.7 | OTOF-205 | 6937 | 1997aa | ENSP00000385255.3 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS74497 | Q9HC10-5 | - | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, APPRIS P4: Where the APPRIS core modules are unable to choose a clear principal CDS and there is more than one variant with a distinct (but consecutive) CCDS identifiers, APPRIS selects the longest CCDS isoform as 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 P4,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, |
| ENST00000402415.8 | OTOF-204 | 5108 | 1250aa | ENSP00000383906.4 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | A0A2U3TZT7 | - | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, 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, | |
| ENST00000338581.10 | OTOF-202 | 4954 | 1230aa | ENSP00000345137.6 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS1726 | Q9HC10-4 | - | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, 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, |
| ENST00000339598.8 | OTOF-203 | 4838 | 1230aa | ENSP00000344521.3 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS1724 | Q9HC10-2 | NM_194323.3 | 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 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, |
| ENST00000426958.1 | OTOF-206 | 557 | 141aa | ENSP00000389917.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | H7BZJ5 | - | 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, 5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete, | |
| ENST00000464574.1 | OTOF-207 | 918 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | 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, |