Description
mirror-image polydactyly 1 [Source:HGNC Symbol;Acc:HGNC:21460]
Gene Synonyms
CCDC193
Location
Chromosome 14: 37,198,087-37,268,791 forward strand.
About this transcript
This transcript has 5 exons, is annotated with 2 domains and features, is associated with 18468 variant alleles and maps to 158 oligo probes.
Gene
This transcript is a product of gene ENSG00000151338.18 Show transcript tableHide transcript table
| Name | Transcript ID | bp | Protein | Translation ID | Biotype | CCDS | UniProt Match | RefSeq Match | Flags |
|---|---|---|---|---|---|---|---|---|---|
| MIPOL1-201 | ENST00000327441.11 | 7185 | 442aa | ENSP00000333539.7 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS9664 | Q8TD10-1 | - | <p>TSL 1: A transcript where all splice junctions are supported by at least one non-suspect mRNA.</p><p>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.</p>TSL:1, The GENCODE set is the gene set for human and mouse. <a href="/Help/Glossary?id=500" class="popup">GENCODE Basic</a> is a subset of representative transcripts (splice variants).GENCODE basic, <p>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.</p><p>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.</p>APPRIS P2, |
| MIPOL1-202 | ENST00000396294.6 | 6258 | 442aa | ENSP00000379589.2 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS9664 | Q8TD10-1 | - | <p>TSL 1: A transcript where all splice junctions are supported by at least one non-suspect mRNA.</p><p>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.</p>TSL:1, The GENCODE set is the gene set for human and mouse. <a href="/Help/Glossary?id=500" class="popup">GENCODE Basic</a> is a subset of representative transcripts (splice variants).GENCODE basic, <p>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.</p><p>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.</p>APPRIS P2, |
| MIPOL1-203 | ENST00000537471.5 | 5954 | 442aa | ENSP00000444254.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS9664 | Q8TD10-1 | - | <p>TSL 5: A transcript where no single transcript supports the model structure.</p><p>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.</p>TSL:5, The GENCODE set is the gene set for human and mouse. <a href="/Help/Glossary?id=500" class="popup">GENCODE Basic</a> is a subset of representative transcripts (splice variants).GENCODE basic, <p>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.</p><p>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.</p>APPRIS P2, |
| MIPOL1-204 | ENST00000539062.6 | 2389 | 411aa | ENSP00000438319.2 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | - | G5EA54 | - | <p>TSL 1: A transcript where all splice junctions are supported by at least one non-suspect mRNA.</p><p>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.</p>TSL:1, The GENCODE set is the gene set for human and mouse. <a href="/Help/Glossary?id=500" class="popup">GENCODE Basic</a> is a subset of representative transcripts (splice variants).GENCODE basic, <p>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.</p><p>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.</p>APPRIS ALT2, |
| MIPOL1-211 | ENST00000556451.5 | 2282 | 424aa | ENSP00000450479.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | - | Q49AL5 | - | <p>TSL 1: A transcript where all splice junctions are supported by at least one non-suspect mRNA.</p><p>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.</p>TSL:1, The GENCODE set is the gene set for human and mouse. <a href="/Help/Glossary?id=500" class="popup">GENCODE Basic</a> is a subset of representative transcripts (splice variants).GENCODE basic, <p>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.</p><p>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.</p>APPRIS ALT2, |
| MIPOL1-206 | ENST00000545536.5 | 2073 | 424aa | ENSP00000442529.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | - | Q49AL5 | - | <p>TSL 5: A transcript where no single transcript supports the model structure.</p><p>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.</p>TSL:5, The GENCODE set is the gene set for human and mouse. <a href="/Help/Glossary?id=500" class="popup">GENCODE Basic</a> is a subset of representative transcripts (splice variants).GENCODE basic, <p>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.</p><p>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.</p>APPRIS ALT2, |
| MIPOL1-213 | ENST00000556753.5 | 775 | 128aa | ENSP00000450575.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | - | G3V2C4 | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, <p>TSL 5: A transcript where no single transcript supports the model structure.</p><p>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.</p>TSL:5, |
| MIPOL1-212 | ENST00000556615.5 | 732 | 104aa | ENSP00000451297.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | - | G3V3K8 | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, <p>TSL 3: A transcript where the only support is from a single EST</p><p>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.</p>TSL:3, |
| MIPOL1-210 | ENST00000555870.5 | 7434 | 180aa | ENSP00000452478.1 | Nonsense mediated decay | - | G3V5R6 | - | <p>TSL 1: A transcript where all splice junctions are supported by at least one non-suspect mRNA.</p><p>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.</p>TSL:1, |
| MIPOL1-205 | ENST00000539174.2 | 2888 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | <p>TSL 1: A transcript where all splice junctions are supported by at least one non-suspect mRNA.</p><p>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.</p>TSL:1, |
| MIPOL1-209 | ENST00000554930.5 | 1377 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | <p>TSL 5: A transcript where no single transcript supports the model structure.</p><p>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.</p>TSL:5, |
| MIPOL1-207 | ENST00000553349.1 | 700 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | <p>TSL 3: A transcript where the only support is from a single EST</p><p>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.</p>TSL:3, |
| MIPOL1-208 | ENST00000554114.1 | 595 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | <p>TSL 3: A transcript where the only support is from a single EST</p><p>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.</p>TSL:3, |
| MIPOL1-214 | ENST00000556940.1 | 485 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | <p>TSL 3: A transcript where the only support is from a single EST</p><p>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.</p>TSL:3, |
| MIPOL1-215 | ENST00000624539.1 | 2101 | No protein | - | TEC | - | - | - | <p>TSL NA: A transcript that was not analysed for TSL.</p><p>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.</p>TSL:NA, |