Description
diphthamide biosynthesis 1 [Source:HGNC Symbol;Acc:HGNC:3003]
Synonyms
DPH2L, OVCA1, DPH2L1
Location
Chromosome 17: 2,030,110-2,043,430 forward strand.
GRCh38:CM000679.2
About this gene
This gene has 17 transcripts (splice variants), 68 orthologues, is a member of 1 Ensembl protein family and is associated with 2 phenotypes.
Transcripts
| Name | Transcript ID | bp | Protein | Translation ID | Biotype | CCDS | UniProt | RefSeq | Flags |
|---|---|---|---|---|---|---|---|---|---|
| DPH1-201 | ENST00000263083.10 | 2221 | 443aa | ENSP00000263083 | <p>Genes and/or transcript that contains an open reading frame (ORF).</p>Protein coding | CCDS42228 | Q9BZG8 | NM_001383 NP_001333503 NP_001374 | <p>Transcript Support Level 1, when transcripts are supported by at least one non-suspect mRNA.</p><p>The <a href="https://genome.ucsc.edu/cgi-bin/hgc?hgsid=423831555_sqRhAapgi8atmzzBPBAz8Me5797J&c=chr14&o=94517268&t=94547548&g=wgEncodeGencodeCompV19&i=ENST00000544005.1#tsl" target="_self">Transcript Support Level</a> (TSL) is a method to highlight the well-supported and poorly-supported transcript models for users. The method relies on the primary data that can support full-length transcript structure: mRNA and EST alignments supplied by UCSC and Ensembl.</p>TSL:1The 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>PRINCIPAL2 - APPRIS candidate principal isoform (CCDS).</p><p><a class="popup" href="/Homo_sapiens/Help/Glossary?id=521">APPRIS</a> is a system to annotate alternatively spliced transcripts based on a range of computational methods.</p>APPRIS P2 |
| DPH1-207 | ENST00000571710.5 | 2013 | 148aa | ENSP00000460813 | <p>Genes and/or transcript that contains an open reading frame (ORF).</p>Protein coding | - | I3L3X9 | - | 5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete<p>Transcript Support Level 1, when transcripts are supported by at least one non-suspect mRNA.</p><p>The <a href="https://genome.ucsc.edu/cgi-bin/hgc?hgsid=423831555_sqRhAapgi8atmzzBPBAz8Me5797J&c=chr14&o=94517268&t=94547548&g=wgEncodeGencodeCompV19&i=ENST00000544005.1#tsl" target="_self">Transcript Support Level</a> (TSL) is a method to highlight the well-supported and poorly-supported transcript models for users. The method relies on the primary data that can support full-length transcript structure: mRNA and EST alignments supplied by UCSC and Ensembl.</p>TSL:1 |
| DPH1-203 | ENST00000570477.5 | 1747 | 363aa | ENSP00000458726 | <p>Genes and/or transcript that contains an open reading frame (ORF).</p>Protein coding | - | Q9BZG8 | - | <p>Transcript Support Level 2, when transcripts are supported by multiple ESTs or by an mRNA flagged as suspect.</p><p>The <a href="https://genome.ucsc.edu/cgi-bin/hgc?hgsid=423831555_sqRhAapgi8atmzzBPBAz8Me5797J&c=chr14&o=94517268&t=94547548&g=wgEncodeGencodeCompV19&i=ENST00000544005.1#tsl" target="_self">Transcript Support Level</a> (TSL) is a method to highlight the well-supported and poorly-supported transcript models for users. The method relies on the primary data that can support full-length transcript structure: mRNA and EST alignments supplied by UCSC and Ensembl.</p>TSL:2The 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>ALTERNATIVE2 - APPRIS candidate principal isoform that appears to be conserved in fewer than three tested non-primate species.</p><p><a class="popup" href="/Homo_sapiens/Help/Glossary?id=521">APPRIS</a> is a system to annotate alternatively spliced transcripts based on a range of computational methods.</p>APPRIS ALT2 |
| DPH1-206 | ENST00000571418.5 | 1733 | 431aa | ENSP00000458838 | <p>Genes and/or transcript that contains an open reading frame (ORF).</p>Protein coding | - | I3L1H5 | NP_001333504 | 5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete<p>Transcript Support Level 2, when transcripts are supported by multiple ESTs or by an mRNA flagged as suspect.</p><p>The <a href="https://genome.ucsc.edu/cgi-bin/hgc?hgsid=423831555_sqRhAapgi8atmzzBPBAz8Me5797J&c=chr14&o=94517268&t=94547548&g=wgEncodeGencodeCompV19&i=ENST00000544005.1#tsl" target="_self">Transcript Support Level</a> (TSL) is a method to highlight the well-supported and poorly-supported transcript models for users. The method relies on the primary data that can support full-length transcript structure: mRNA and EST alignments supplied by UCSC and Ensembl.</p>TSL:2<p>ALTERNATIVE2 - APPRIS candidate principal isoform that appears to be conserved in fewer than three tested non-primate species.</p><p><a class="popup" href="/Homo_sapiens/Help/Glossary?id=521">APPRIS</a> is a system to annotate alternatively spliced transcripts based on a range of computational methods.</p>APPRIS ALT2 |
| DPH1-217 | ENST00000607788.1 | 775 | 103aa | ENSP00000476070 | <p>Genes and/or transcript that contains an open reading frame (ORF).</p>Protein coding | - | U3KQN3 | - | 5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete<p>Transcript Support Level 5, for transcripts that are not supported at all by either an mRNA or an EST.</p><p>The <a href="https://genome.ucsc.edu/cgi-bin/hgc?hgsid=423831555_sqRhAapgi8atmzzBPBAz8Me5797J&c=chr14&o=94517268&t=94547548&g=wgEncodeGencodeCompV19&i=ENST00000544005.1#tsl" target="_self">Transcript Support Level</a> (TSL) is a method to highlight the well-supported and poorly-supported transcript models for users. The method relies on the primary data that can support full-length transcript structure: mRNA and EST alignments supplied by UCSC and Ensembl.</p>TSL:5 |
| DPH1-212 | ENST00000575162.1 | 657 | 107aa | ENSP00000476598 | <p>Genes and/or transcript that contains an open reading frame (ORF).</p>Protein coding | - | V9GYC0 | - | 5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete<p>Transcript Support Level 2, when transcripts are supported by multiple ESTs or by an mRNA flagged as suspect.</p><p>The <a href="https://genome.ucsc.edu/cgi-bin/hgc?hgsid=423831555_sqRhAapgi8atmzzBPBAz8Me5797J&c=chr14&o=94517268&t=94547548&g=wgEncodeGencodeCompV19&i=ENST00000544005.1#tsl" target="_self">Transcript Support Level</a> (TSL) is a method to highlight the well-supported and poorly-supported transcript models for users. The method relies on the primary data that can support full-length transcript structure: mRNA and EST alignments supplied by UCSC and Ensembl.</p>TSL:2 |
| DPH1-213 | ENST00000575667.5 | 1644 | 214aa | ENSP00000460431 | 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 | - | A0A0A0MTR4 | - | 5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete<p>Transcript Support Level 1, when transcripts are supported by at least one non-suspect mRNA.</p><p>The <a href="https://genome.ucsc.edu/cgi-bin/hgc?hgsid=423831555_sqRhAapgi8atmzzBPBAz8Me5797J&c=chr14&o=94517268&t=94547548&g=wgEncodeGencodeCompV19&i=ENST00000544005.1#tsl" target="_self">Transcript Support Level</a> (TSL) is a method to highlight the well-supported and poorly-supported transcript models for users. The method relies on the primary data that can support full-length transcript structure: mRNA and EST alignments supplied by UCSC and Ensembl.</p>TSL:1 |
| DPH1-204 | ENST00000570833.5 | 558 | 49aa | ENSP00000467936 | 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 | - | K7EQQ6 | - | 5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete<p>Transcript Support Level 5, for transcripts that are not supported at all by either an mRNA or an EST.</p><p>The <a href="https://genome.ucsc.edu/cgi-bin/hgc?hgsid=423831555_sqRhAapgi8atmzzBPBAz8Me5797J&c=chr14&o=94517268&t=94547548&g=wgEncodeGencodeCompV19&i=ENST00000544005.1#tsl" target="_self">Transcript Support Level</a> (TSL) is a method to highlight the well-supported and poorly-supported transcript models for users. The method relies on the primary data that can support full-length transcript structure: mRNA and EST alignments supplied by UCSC and Ensembl.</p>TSL:5 |
| DPH1-202 | ENST00000263084.6 | 557 | 52aa | ENSP00000477033 | 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 | - | V9GYS2 | - | 5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete<p>Transcript Support Level 3, when transcripts are supported by a single EST only.</p><p>The <a href="https://genome.ucsc.edu/cgi-bin/hgc?hgsid=423831555_sqRhAapgi8atmzzBPBAz8Me5797J&c=chr14&o=94517268&t=94547548&g=wgEncodeGencodeCompV19&i=ENST00000544005.1#tsl" target="_self">Transcript Support Level</a> (TSL) is a method to highlight the well-supported and poorly-supported transcript models for users. The method relies on the primary data that can support full-length transcript structure: mRNA and EST alignments supplied by UCSC and Ensembl.</p>TSL:3 |
| DPH1-216 | ENST00000576891.2 | 537 | 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 | - | - | - | <p>Transcript Support Level 4, for transcripts supported by an EST flagged as suspect.</p><p>The <a href="https://genome.ucsc.edu/cgi-bin/hgc?hgsid=423831555_sqRhAapgi8atmzzBPBAz8Me5797J&c=chr14&o=94517268&t=94547548&g=wgEncodeGencodeCompV19&i=ENST00000544005.1#tsl" target="_self">Transcript Support Level</a> (TSL) is a method to highlight the well-supported and poorly-supported transcript models for users. The method relies on the primary data that can support full-length transcript structure: mRNA and EST alignments supplied by UCSC and Ensembl.</p>TSL:4 |
| DPH1-210 | ENST00000572684.1 | 2607 | 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 | - | - | - | <p>Transcript Support Level 2, when transcripts are supported by multiple ESTs or by an mRNA flagged as suspect.</p><p>The <a href="https://genome.ucsc.edu/cgi-bin/hgc?hgsid=423831555_sqRhAapgi8atmzzBPBAz8Me5797J&c=chr14&o=94517268&t=94547548&g=wgEncodeGencodeCompV19&i=ENST00000544005.1#tsl" target="_self">Transcript Support Level</a> (TSL) is a method to highlight the well-supported and poorly-supported transcript models for users. The method relies on the primary data that can support full-length transcript structure: mRNA and EST alignments supplied by UCSC and Ensembl.</p>TSL:2 |
| DPH1-205 | ENST00000570867.5 | 2265 | 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 | - | - | - | <p>Transcript Support Level 2, when transcripts are supported by multiple ESTs or by an mRNA flagged as suspect.</p><p>The <a href="https://genome.ucsc.edu/cgi-bin/hgc?hgsid=423831555_sqRhAapgi8atmzzBPBAz8Me5797J&c=chr14&o=94517268&t=94547548&g=wgEncodeGencodeCompV19&i=ENST00000544005.1#tsl" target="_self">Transcript Support Level</a> (TSL) is a method to highlight the well-supported and poorly-supported transcript models for users. The method relies on the primary data that can support full-length transcript structure: mRNA and EST alignments supplied by UCSC and Ensembl.</p>TSL:2 |
| DPH1-211 | ENST00000572819.6 | 1345 | 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 | - | - | - | <p>Transcript Support Level 5, for transcripts that are not supported at all by either an mRNA or an EST.</p><p>The <a href="https://genome.ucsc.edu/cgi-bin/hgc?hgsid=423831555_sqRhAapgi8atmzzBPBAz8Me5797J&c=chr14&o=94517268&t=94547548&g=wgEncodeGencodeCompV19&i=ENST00000544005.1#tsl" target="_self">Transcript Support Level</a> (TSL) is a method to highlight the well-supported and poorly-supported transcript models for users. The method relies on the primary data that can support full-length transcript structure: mRNA and EST alignments supplied by UCSC and Ensembl.</p>TSL:5 |
| DPH1-215 | ENST00000576129.5 | 991 | 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 | - | - | - | <p>Transcript Support Level 2, when transcripts are supported by multiple ESTs or by an mRNA flagged as suspect.</p><p>The <a href="https://genome.ucsc.edu/cgi-bin/hgc?hgsid=423831555_sqRhAapgi8atmzzBPBAz8Me5797J&c=chr14&o=94517268&t=94547548&g=wgEncodeGencodeCompV19&i=ENST00000544005.1#tsl" target="_self">Transcript Support Level</a> (TSL) is a method to highlight the well-supported and poorly-supported transcript models for users. The method relies on the primary data that can support full-length transcript structure: mRNA and EST alignments supplied by UCSC and Ensembl.</p>TSL:2 |
| DPH1-208 | ENST00000572214.5 | 946 | 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 | - | - | - | <p>Transcript Support Level 5, for transcripts that are not supported at all by either an mRNA or an EST.</p><p>The <a href="https://genome.ucsc.edu/cgi-bin/hgc?hgsid=423831555_sqRhAapgi8atmzzBPBAz8Me5797J&c=chr14&o=94517268&t=94547548&g=wgEncodeGencodeCompV19&i=ENST00000544005.1#tsl" target="_self">Transcript Support Level</a> (TSL) is a method to highlight the well-supported and poorly-supported transcript models for users. The method relies on the primary data that can support full-length transcript structure: mRNA and EST alignments supplied by UCSC and Ensembl.</p>TSL:5 |
| DPH1-209 | ENST00000572248.1 | 535 | 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 | - | - | - | <p>Transcript Support Level 2, when transcripts are supported by multiple ESTs or by an mRNA flagged as suspect.</p><p>The <a href="https://genome.ucsc.edu/cgi-bin/hgc?hgsid=423831555_sqRhAapgi8atmzzBPBAz8Me5797J&c=chr14&o=94517268&t=94547548&g=wgEncodeGencodeCompV19&i=ENST00000544005.1#tsl" target="_self">Transcript Support Level</a> (TSL) is a method to highlight the well-supported and poorly-supported transcript models for users. The method relies on the primary data that can support full-length transcript structure: mRNA and EST alignments supplied by UCSC and Ensembl.</p>TSL:2 |
| DPH1-214 | ENST00000575998.1 | 535 | 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 | - | - | - | <p>Transcript Support Level 3, when transcripts are supported by a single EST only.</p><p>The <a href="https://genome.ucsc.edu/cgi-bin/hgc?hgsid=423831555_sqRhAapgi8atmzzBPBAz8Me5797J&c=chr14&o=94517268&t=94547548&g=wgEncodeGencodeCompV19&i=ENST00000544005.1#tsl" target="_self">Transcript Support Level</a> (TSL) is a method to highlight the well-supported and poorly-supported transcript models for users. The method relies on the primary data that can support full-length transcript structure: mRNA and EST alignments supplied by UCSC and Ensembl.</p>TSL:3 |
