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Summary
- Splice variants
- Transcript comparison
- Gene alleles
Sequence
- Secondary Structure
Comparative Genomics
- Paralogues
- Genomic alignments
- Gene tree
- Gene gain/loss tree
- Orthologues
Ontologies
Phenotypes
Genetic Variation
Gene expression
Pathway
Molecular interactions
Regulation
External references
Supporting evidence
ID History
- Gene history

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Gene: TSC1 ENSG00000165699

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Description

tuberous sclerosis 1 [Source:HGNC Symbol;Acc:12362]

Gene Synonyms

KIAA0243, LAM, TSC, hamartin

Location

Chromosome 9: 135,766,735-135,820,020 reverse strand.

GRCh37:CM000671.1

About this gene

This gene has 8 transcripts (splice variants) and is associated with 97 phenotypes.

Transcripts

Show transcript tableHide transcript table

Transcript ID	Name	bp	Protein	Translation ID	Biotype	CCDS	UniProt Match	RefSeq	Flags
ENST00000298552.3	TSC1-001	8604	1164aa	ENSP00000298552.3	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS6956	Q92574	NM_001162427.1	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,
ENST00000440111.2	TSC1-201	8463	1164aa	ENSP00000394524.2	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS6956	Q92574	-	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000545250.1	TSC1-202	8310	1113aa	ENSP00000444017.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS55350	Q92574	-	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000403810.1	TSC1-003	1507	366aa	ENSP00000386093.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		Q86WV8	-	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000475903.1	TSC1-005	820	No protein	-	Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript		-	-	-
ENST00000490179.2	TSC1-002	681	No protein	-	Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript		-	-	-
ENST00000461879.1	TSC1-004	492	No protein	-	Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript		-	-	-
ENST00000493467.1	TSC1-006	2219	No protein	-	An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron		-	-	-

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Summary

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