Description
Williams Beuren syndrome chromosome region 22
Synonyms
MGC2022, MGC5140, WBMT, MGC19709, PP3381, MERM1
Location
Chromosome 7: 73,683,025-73,705,161 forward strand.
VEGA68:CM000669.2
About this gene
This gene has 18 transcripts (splice variants).
Transcripts
| Name | Transcript ID | bp | Protein | Translation ID | Biotype | CCDS | UniProt | Flags |
|---|---|---|---|---|---|---|---|---|
| WBSCR22-001 | OTTHUMT00000252303.1 | 1230 | 281aa | OTTHUMP00000160499 | <p>Genes and/or transcript that contains an open reading frame (ORF).</p>Protein coding | CCDS5557 | O43709 | |
| WBSCR22-007 | OTTHUMT00000348039.2 | 1219 | 298aa | OTTHUMP00000211784 | <p>Genes and/or transcript that contains an open reading frame (ORF).</p>Protein coding | CCDS56490 | - | |
| WBSCR22-017 | OTTHUMT00000348049.1 | 691 | 128aa | OTTHUMP00000211789 | <p>Genes and/or transcript that contains an open reading frame (ORF).</p>Protein coding | - | - | 5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete |
| WBSCR22-012 | OTTHUMT00000348044.2 | 632 | 193aa | OTTHUMP00000211786 | <p>Genes and/or transcript that contains an open reading frame (ORF).</p>Protein coding | - | F2Z3D9 | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete |
| WBSCR22-009 | OTTHUMT00000348041.2 | 538 | 89aa | OTTHUMP00000211785 | <p>Genes and/or transcript that contains an open reading frame (ORF).</p>Protein coding | - | F2Z3D9 | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete |
| WBSCR22-018 | OTTHUMT00000348050.1 | 452 | 65aa | OTTHUMP00000211790 | <p>Genes and/or transcript that contains an open reading frame (ORF).</p>Protein coding | - | - | 5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete |
| WBSCR22-004 | OTTHUMT00000348036.2 | 2496 | 123aa | OTTHUMP00000211782 | 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 | - | F2Z3D9 | |
| WBSCR22-006 | OTTHUMT00000348038.2 | 1260 | 67aa | OTTHUMP00000211783 | 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 | - | F2Z3D9 | |
| WBSCR22-002 | OTTHUMT00000348034.1 | 1074 | 140aa | OTTHUMP00000211780 | 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 | - | E9PCQ7 | |
| WBSCR22-003 | OTTHUMT00000348035.1 | 895 | 100aa | OTTHUMP00000211781 | 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 | - | F8WD87 | |
| WBSCR22-016 | OTTHUMT00000348048.1 | 738 | 39aa | OTTHUMP00000211788 | 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 | - | - | 5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete |
| WBSCR22-013 | OTTHUMT00000348045.1 | 577 | 140aa | OTTHUMP00000211787 | 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 | - | - | |
| WBSCR22-015 | OTTHUMT00000348047.1 | 458 | 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 | - | - | |
| WBSCR22-008 | OTTHUMT00000348040.1 | 3886 | 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 | - | - | |
| WBSCR22-005 | OTTHUMT00000348037.2 | 1815 | 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 | - | - | |
| WBSCR22-014 | OTTHUMT00000348046.1 | 631 | 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 | - | - | |
| WBSCR22-010 | OTTHUMT00000348042.2 | 572 | 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 | - | - | |
| WBSCR22-011 | OTTHUMT00000348043.1 | 505 | 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 | - | - |
