Description
T-box 1 [Source:HGNC Symbol;Acc:11592]
Gene Synonyms
CAFS, CTHM, DGCR, DGS, DORV, TBX1C, TGA, VCFS
Location
Chromosome 22: 19,744,226-19,771,116 forward strand.
GRCh37:CM000684.1
About this gene
This gene has 5 transcripts (splice variants), 12 paralogues and is associated with 8 phenotypes.
Transcripts
Transcript ID | Name | bp | Protein | Translation ID | Biotype | CCDS | UniProt Match | RefSeq | Flags |
---|---|---|---|---|---|---|---|---|---|
ENST00000332710.4 | TBX1-003 | 2082 | 495aa | ENSP00000331791.4 | Protein coding | CCDS13767 | D9ZGG0 O43435 | NM_080647.1 | GENCODE basic, |
ENST00000359500.3 | TBX1-001 | 1538 | 372aa | ENSP00000352483.3 | Protein coding | CCDS13765 | O43435 Q152R5 | NM_005992.1 | GENCODE basic, |
ENST00000329705.7 | TBX1-002 | 1465 | 398aa | ENSP00000331176.7 | Protein coding | CCDS13766 | O43435 | NM_080646.1 | GENCODE basic, |
ENST00000475303.1 | TBX1-004 | 546 | No protein | - | Retained intron | - | - | - | |
ENST00000484336.1 | TBX1-005 | 529 | No protein | - | Retained intron | - | - | - |