Description
cystathionine-beta-synthase [Source:HGNC Symbol;Acc:1550]
Gene Synonyms
HIP4
Location
Chromosome 21: 44,473,301-44,497,053 reverse strand.
GRCh37:CM000683.1
About this gene
This gene has 19 transcripts (splice variants) and is associated with 5 phenotypes.
Transcripts
| Transcript ID | Name | bp | Protein | Translation ID | Biotype | CCDS | UniProt Match | RefSeq | Flags |
|---|---|---|---|---|---|---|---|---|---|
| ENST00000398165.3 | CBS-003 | 2605 | 551aa | ENSP00000381231.3 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS13693 | C9JMA6 F5H2U1 P35520 Q3LR94 Q96EH7 | NM_000071.2 | 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, The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, |
| ENST00000352178.5 | CBS-001 | 2583 | 551aa | ENSP00000344460.5 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS13693 | C9JMA6 F5H2U1 P35520 Q3LR94 Q96EH7 | NM_001178008.1 | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, |
| ENST00000398168.1 | CBS-201 | 2554 | 565aa | ENSP00000381234.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | C9JMA6 P35520 Q3LR94 | - | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, | |
| ENST00000398158.1 | CBS-004 | 2453 | 551aa | ENSP00000381225.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS13693 | C9JMA6 F5H2U1 P35520 Q3LR94 Q96EH7 | - | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, |
| ENST00000359624.3 | CBS-002 | 2353 | 551aa | ENSP00000352643.3 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS13693 | C9JMA6 F5H2U1 P35520 Q3LR94 Q96EH7 | NM_001178009.1 | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, |
| ENST00000544202.1 | CBS-202 | 1703 | 463aa | ENSP00000439332.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | F5H2U1 Q3LR94 Q96EH7 | - | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, | |
| ENST00000430013.1 | CBS-014 | 828 | 224aa | ENSP00000405929.1 | 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, | |
| ENST00000441030.1 | CBS-007 | 819 | 177aa | ENSP00000388235.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | C9JMA6 | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, | |
| ENST00000458223.1 | CBS-015 | 676 | 159aa | ENSP00000408014.1 | 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, | |
| ENST00000451248.1 | CBS-016 | 573 | 149aa | ENSP00000402823.1 | 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, | |
| ENST00000470912.1 | CBS-008 | 894 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
| ENST00000478709.1 | CBS-017 | 727 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
| ENST00000465732.1 | CBS-009 | 683 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
| ENST00000488526.1 | CBS-010 | 672 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
| ENST00000461686.1 | CBS-005 | 2656 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000491776.1 | CBS-006 | 1515 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000462349.1 | CBS-013 | 1038 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000486098.1 | CBS-012 | 773 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000496485.1 | CBS-011 | 673 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - |
