Description
matrilin 3 [Source:HGNC Symbol;Acc:HGNC:6909]
Gene Synonyms
EDM5, HOA
Location
Chromosome 2: 19,992,052-20,012,668 reverse strand.
GRCh38:CM000664.2
About this gene
This gene has 3 transcripts (splice variants), 353 orthologues, 12 paralogues and is associated with 6 phenotypes.
Transcripts
| Name | Transcript ID | bp | Protein | Translation ID | Biotype | CCDS | UniProt Match | RefSeq Match | Flags |
|---|---|---|---|---|---|---|---|---|---|
| MATN3-201 | ENST00000407540.8 | 2557 | 486aa | ENSP00000383894.3 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS46226 | O15232-1 | NM_002381.5 | <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 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, |
| MATN3-202 | ENST00000421259.2 | 1443 | 444aa | ENSP00000398753.2 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | - | O15232-2 | - | <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, |
| MATN3-203 | ENST00000478482.1 | 793 | 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, |
