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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. TSC1, Tuberous sclerosis 1
Sequence ID:NM_000368
NM_001162426
NM_001162427
RefSeqGene ID:NG_012386
Entrez Gene ID:7248
Ensembl ID:ENSG00000165699

Database Links

UniGeneEntrez GeneOMIMEnsembl GeneHPRDVegaSNPSNP: GeneViewSNP: VarViewAssembliesCancer AberrationsRNAi

Gene Expression Data


Associated Diseases (from OMIM)

DiseaseOther Genes
FOCAL CORTICAL DYSPLASIA, TAYLOR BALLOON CELL TYPE 
LYMPHANGIOLEIOMYOMATOSISTSC2
TUBEROUS SCLEROSIS-1IFNG
TSC2

Cytogenetic Location (from UniGene)

Cytogenetic Location:9q34Mitelman Breakpoint Data

Chromosomal Position (from UCSC)

Chromosomal Position:9: 135785197 - 135819982

 Exon Info From UCSC:
NM_000368
NM_001162426
NM_001162427

Full-Length MGC Clones for This Gene

IMAGE IdStatusAccession GenBank Def Line
100068214Full LengthBC167824tuberous sclerosis 1
6173298IncompleteBC108668tuberous sclerosis 1

Protein Similarities Based on Shared Motif Content

Find gene products sharing protein motifs with:  NP_000359  

Protein Infomation

RefSeq
mRNAProteinSwissProtPfam
NM_000368 NP_000359 Q92574 Hamartin
NM_001162426 NP_001155898    
NM_001162427 NP_001155899    

Related Sequences

 
mRNAGenPeptSwissProt
AF013168 AAC51674 Q92574
BC047772 AAH47772 Q86WV8
BC070032 AAH70032 Q86WV8
BC108668 AAI08669 Q32NF0
BC121000 AAI21001 Q0VAM5
BC167824 AAI67824  
D87683 BAA13436 Q92574
AB190910 BAD91314 Q59IT9
AK297326 BAH12548 B7Z4G2
AK299654 BAH13090 B7Z604
AK303030 BAH13883 Q92574

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 TSC1 NP_000359 M.musculus Tsc1 64930 Gene Info NP_075025 88
R.norvegicus Tsc1 60445   NP_068626 87
D.melanogaster Tsc1 42862   NP_477415 29

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

BioCarta Pathways
Pathway information courtesy of BioCarta