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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 123 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	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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