Description
sphingomyelin phosphodiesterase 1 [Source:HGNC Symbol;Acc:HGNC:11120]
Gene Synonyms
ASM
Location
Chromosome 11: 6,390,446-6,392,042 forward strand.
About this transcript
This transcript has 2 exons, is annotated with 4 domains and features, is associated with 1088 variant alleles and maps to 405 oligo probes.
Gene
This transcript is a product of gene ENSG00000166311.10 Show transcript tableHide transcript table
| Name | Transcript ID | bp | Protein | Translation ID | Biotype | CCDS | UniProt Match | RefSeq Match | Flags |
|---|---|---|---|---|---|---|---|---|---|
| SMPD1-201 | ENST00000342245.9 | 2410 | 631aa | ENSP00000340409.4 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS44531 | P17405-1 | NM_000543.5 | <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, 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 v0.92, |
| SMPD1-203 | ENST00000527275.5 | 2188 | 630aa | ENSP00000435350.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS31409 | P17405-4 | - | <p>TSL 2: A transcript where the best supporting mRNA is flagged as suspect or the support is from multiple ESTs</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:2, 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, |
| SMPD1-202 | ENST00000526280.1 | 1344 | 317aa | ENSP00000436278.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | - | H0YEP5 | - | 5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete, <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, |
| SMPD1-204 | ENST00000530395.1 | 447 | 52aa | ENSP00000431479.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | - | E9PL59 | - | 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, |
| SMPD1-210 | ENST00000534405.5 | 2446 | 402aa | ENSP00000434353.1 | Nonsense mediated decay | - | E9PQT3 | - | <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, |
| SMPD1-208 | ENST00000533123.5 | 2211 | 366aa | ENSP00000435950.1 | Nonsense mediated decay | - | G3V1E1 | - | <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, |
| SMPD1-205 | ENST00000531303.5 | 1451 | 171aa | ENSP00000432625.1 | Nonsense mediated decay | - | E9PPK6 | - | <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, |
| SMPD1-209 | ENST00000533196.1 | 425 | 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, |
| SMPD1-206 | ENST00000531336.1 | 650 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | <p>TSL 2: A transcript where the best supporting mRNA is flagged as suspect or the support is from multiple ESTs</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:2, |
| SMPD1-207 | ENST00000532367.1 | 409 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | <p>TSL 2: A transcript where the best supporting mRNA is flagged as suspect or the support is from multiple ESTs</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:2, |