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 | Protein coding | CCDS13693 | C9JMA6 F5H2U1 P35520 Q3LR94 Q96EH7 | NM_000071.2 | GENCODE basic, |
ENST00000352178.5 | CBS-001 | 2583 | 551aa | ENSP00000344460.5 | Protein coding | CCDS13693 | C9JMA6 F5H2U1 P35520 Q3LR94 Q96EH7 | NM_001178008.1 | GENCODE basic, |
ENST00000398168.1 | CBS-201 | 2554 | 565aa | ENSP00000381234.1 | Protein coding | C9JMA6 P35520 Q3LR94 | - | GENCODE basic, | |
ENST00000398158.1 | CBS-004 | 2453 | 551aa | ENSP00000381225.1 | Protein coding | CCDS13693 | C9JMA6 F5H2U1 P35520 Q3LR94 Q96EH7 | - | GENCODE basic, |
ENST00000359624.3 | CBS-002 | 2353 | 551aa | ENSP00000352643.3 | Protein coding | CCDS13693 | C9JMA6 F5H2U1 P35520 Q3LR94 Q96EH7 | NM_001178009.1 | GENCODE basic, |
ENST00000544202.1 | CBS-202 | 1703 | 463aa | ENSP00000439332.1 | Protein coding | F5H2U1 Q3LR94 Q96EH7 | - | GENCODE basic, | |
ENST00000430013.1 | CBS-014 | 828 | 224aa | ENSP00000405929.1 | Protein coding | - | - | CDS 5' incomplete, | |
ENST00000441030.1 | CBS-007 | 819 | 177aa | ENSP00000388235.1 | Protein coding | C9JMA6 | - | CDS 3' incomplete, | |
ENST00000458223.1 | CBS-015 | 676 | 159aa | ENSP00000408014.1 | Protein coding | - | - | CDS 5' incomplete, | |
ENST00000451248.1 | CBS-016 | 573 | 149aa | ENSP00000402823.1 | Protein coding | - | - | CDS 5' incomplete, | |
ENST00000470912.1 | CBS-008 | 894 | No protein | - | Processed transcript | - | - | - | |
ENST00000478709.1 | CBS-017 | 727 | No protein | - | Processed transcript | - | - | - | |
ENST00000465732.1 | CBS-009 | 683 | No protein | - | Processed transcript | - | - | - | |
ENST00000488526.1 | CBS-010 | 672 | No protein | - | Processed transcript | - | - | - | |
ENST00000461686.1 | CBS-005 | 2656 | No protein | - | Retained intron | - | - | - | |
ENST00000491776.1 | CBS-006 | 1515 | No protein | - | Retained intron | - | - | - | |
ENST00000462349.1 | CBS-013 | 1038 | No protein | - | Retained intron | - | - | - | |
ENST00000486098.1 | CBS-012 | 773 | No protein | - | Retained intron | - | - | - | |
ENST00000496485.1 | CBS-011 | 673 | No protein | - | Retained intron | - | - | - |