Description
Williams Beuren syndrome chromosome region 22 [Source:HGNC Symbol;Acc:16405]
Gene Synonyms
HASJ4442, HUSSY-3, MERM1, MGC19709, MGC2022, MGC5140, PP3381, WBMT
Location
Chromosome 7: 73,097,355-73,119,491 forward strand.
GRCh37:CM000669.1
View alleles of this gene on alternative sequences
About this gene
This gene has 19 transcripts (splice variants), 1 gene allele, 202 orthologues and is associated with 2 phenotypes.
Transcripts
| Transcript ID | Name | bp | Protein | Translation ID | Biotype | CCDS | UniProt Match | RefSeq | Flags |
|---|---|---|---|---|---|---|---|---|---|
| ENST00000423497.1 | WBSCR22-007 | 1219 | 298aa | ENSP00000401191.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS56490 | C9K060 | NM_001202560.2 | A single transcript chosen for a gene which is the most conserved, most highly expressed, has the longest coding sequence and is represented in other key resources, such as NCBI and UniProt. This is defined in detail on http://www.ensembl.org/info/genome/genebuild/canonical.htmlEnsembl Canonical, A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic, |
| ENST00000423166.2 | WBSCR22-201 | 2496 | 123aa | ENSP00000397056.2 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | B3KR83 | - | A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic, | |
| ENST00000265758.2 | WBSCR22-001 | 1230 | 281aa | ENSP00000265758.2 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS5557 | O43709 Q75ME3 | NM_017528.4 | A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic, |
| ENST00000442099.1 | WBSCR22-017 | 691 | 128aa | ENSP00000398732.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | - | - | 5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete, | |
| ENST00000453316.1 | WBSCR22-018 | 452 | 65aa | ENSP00000394852.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | - | - | 5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete, | |
| ENST00000436944.1 | WBSCR22-004 | 2496 | 29aa | ENSP00000391410.1 | Nonsense mediated decay | F2Z3D9 | - | - | |
| ENST00000430270.1 | WBSCR22-006 | 1260 | 29aa | ENSP00000398314.1 | Nonsense mediated decay | F2Z3D9 | - | - | |
| ENST00000432522.1 | WBSCR22-002 | 1074 | 140aa | ENSP00000390136.1 | Nonsense mediated decay | E9PCQ7 | - | - | |
| ENST00000421744.1 | WBSCR22-003 | 895 | 100aa | ENSP00000404981.1 | Nonsense mediated decay | F8WD87 | - | - | |
| ENST00000430446.1 | WBSCR22-016 | 738 | 39aa | ENSP00000415387.1 | Nonsense mediated decay | - | - | 5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete, | |
| ENST00000441822.1 | WBSCR22-012 | 632 | 29aa | ENSP00000392039.1 | Nonsense mediated decay | F2Z3D9 | - | - | |
| ENST00000428163.1 | WBSCR22-013 | 577 | 140aa | ENSP00000390048.1 | Nonsense mediated decay | F8WD67 | - | - | |
| ENST00000421304.1 | WBSCR22-009 | 538 | 29aa | ENSP00000391761.1 | Nonsense mediated decay | F2Z3D9 | - | - | |
| ENST00000464615.1 | WBSCR22-015 | 458 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
| ENST00000471215.1 | WBSCR22-008 | 3886 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000463307.1 | WBSCR22-005 | 1815 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000487006.1 | WBSCR22-014 | 631 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000478670.1 | WBSCR22-010 | 572 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000496153.1 | WBSCR22-011 | 505 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - |
