Description
adaptor related protein complex 4 subunit sigma 1 [Source:HGNC Symbol;Acc:HGNC:575]
Gene Synonyms
AP47B, CLA20, SPG52
Location
Chromosome 14: 31,025,106-31,130,996 forward strand.
GRCh38:CM000676.2
About this gene
This gene has 15 transcripts (splice variants), 288 orthologues, 6 paralogues and is associated with 3 phenotypes.
Transcripts
| Name | Transcript ID | bp | Protein | Translation ID | Biotype | CCDS | UniProt Match | RefSeq Match | Flags |
|---|---|---|---|---|---|---|---|---|---|
| AP4S1-211 | ENST00000616371.4 | 4595 | 144aa | ENSP00000477631.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS45093 | Q9Y587-1 | - | <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 P1: Transcript(s) expected to code for the main functional isoform based solely on the core modules in the APPRIS.</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 P1, |
| AP4S1-212 | ENST00000622409.4 | 4113 | 144aa | ENSP00000482876.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS45093 | Q9Y587-1 | - | <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, 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 P1: Transcript(s) expected to code for the main functional isoform based solely on the core modules in the APPRIS.</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 P1, |
| AP4S1-204 | ENST00000542754.7 | 4060 | 144aa | ENSP00000438170.2 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS45093 | Q9Y587-1 | NM_001128126.3 | <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 P1: Transcript(s) expected to code for the main functional isoform based solely on the core modules in the APPRIS.</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 P1, 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 v0.91, |
| AP4S1-201 | ENST00000216366.8 | 2256 | 159aa | ENSP00000216366.4 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS9642 | Q9Y587-2 | - | <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, |
| AP4S1-205 | ENST00000554345.5 | 1491 | 135aa | ENSP00000450768.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS58310 | Q9Y587-3 | - | <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, 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, |
| AP4S1-203 | ENST00000334725.8 | 1122 | 149aa | ENSP00000334484.4 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS58309 | Q9Y587-4 | - | <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, |
| AP4S1-202 | ENST00000313566.10 | 839 | 149aa | ENSP00000322508.7 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS58309 | Q9Y587-4 | - | <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, 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, |
| AP4S1-215 | ENST00000673317.1 | 2562 | 135aa | ENSP00000500890.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | - | A0A5F9ZI62 | - | - |
| AP4S1-206 | ENST00000554609.5 | 1012 | 102aa | ENSP00000452383.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | - | G3V5J6 | - | <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, |
| AP4S1-207 | ENST00000555417.5 | 769 | 7aa | ENSP00000451609.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | - | A0A0G2JL90 | - | 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, |
| AP4S1-210 | ENST00000557346.5 | 663 | 133aa | ENSP00000451479.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | - | G3V3X7 | - | 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, |
| AP4S1-208 | ENST00000556232.5 | 542 | 98aa | ENSP00000451918.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | - | G3V4P7 | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, <p>TSL 4: A transcript where the best supporting EST is flagged as suspect</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:4, |
| AP4S1-213 | ENST00000672143.1 | 2694 | 141aa | ENSP00000500016.1 | Nonsense mediated decay | - | A0A5F9ZH42 | - | - |
| AP4S1-214 | ENST00000673001.1 | 1938 | 117aa | ENSP00000500716.1 | Nonsense mediated decay | - | A0A5F9ZHV3 | - | - |
| AP4S1-209 | ENST00000556480.1 | 407 | 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, |
