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Cancer Genome Characterization Initiative

Visit the database of genomic characterization data for multiple tumor types.


Gene Info

Gene Information For:Hs. TBX1, T-box 1
Sequence ID:NM_005992
NM_080646
NM_080647
RefSeqGene ID:NG_009229
Entrez Gene ID:6899
Ensembl ID:ENSG00000184058

Database Links

UniGeneEntrez GeneOMIMEnsembl GeneHPRDVegaSNPSNP: GeneViewSNP: VarViewAssembliesCancer AberrationsRNAi

Gene Expression Data


Associated Diseases (from OMIM)

DiseaseOther Genes
CONOTRUNCAL ANOMALY FACE SYNDROMECFC1
GATA6
GATA6
GDF1
NKX2-5
NKX2-6
DIGEORGE SYNDROME 
VELOCARDIOFACIAL SYNDROME 

Cytogenetic Location (from UniGene)

Cytogenetic Location:22q11.21Mitelman Breakpoint Data

Chromosomal Position (from UCSC)

Chromosomal Position:22: 19744225 - 19767068

 Exon Info From UCSC:
NM_005992
NM_080646
NM_080647

Protein Similarities Based on Shared Motif Content

Find gene products sharing protein motifs with:  NP_542377  NP_542378  NP_005983  

Protein Infomation

RefSeq
mRNAProteinSwissProtPfam
NM_005992 NP_005983   T-box
NM_080646 NP_542377 O43435 T-box
NM_080647 NP_542378   T-box

Related Sequences

 
mRNAGenPeptSwissProt
AF012130 AAB94018 O43435
AF012131 AAB94019 O43435
AF373867 AAK58955 O43435
GU014843 ACX32330  

Homologs (from HomoloGene)
Note: Both orthologs and paralogs are included.
Organism Symbol Protein Homolog Similarity
(% aa unchanged)
Organism Symbol Entrez
Gene
Gene Info Protein
H.sapiens TBX1 NP_542378 M.musculus Tbx1 21380 Gene Info NP_035662 92
R.norvegicus Tbx1 360737   NP_001101792 92
C.elegans mls-1 186741   NP_498640 57

Gene Ontology
Gene classification by the European Bioinformatics Institute, as recorded in GOA (GO Annotation@EBI)