Transcript: ENST00000298552.3 TSC1-001

Description

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

Gene Synonyms

KIAA0243, LAM, TSC, hamartin

Location

Chromosome 9: 135,766,735-135,820,008 reverse strand.

About this transcript

This transcript has 23 exons, is annotated with 13 domains and features, is associated with 29752 variant alleles and maps to 784 oligo probes.

Gene

This transcript is a product of gene ENSG00000165699.9 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		-	-	-

Summary

Statistics

Exons: 23, Coding exons: 21, Transcript length: 8,604 bps, Translation length: 1,164 residues

Uniprot

This transcript corresponds to the following Uniprot identifiers: Q92574

CCDS

This transcript is a member of the Human CCDS set: CCDS6956

Version

ENST00000298552.3

Type

Protein coding

Annotation Method

Manual annotation (determined on a case-by-case basis) from the Havana project.

Alternative transcripts

This transcript corresponds to the following database identifiers:

Havana transcript:	OTTHUMT00000054799 (version 1)

GENCODE basic gene

This transcript is a member of the Gencode basic gene set.

Favourite species

All species

Recent locations

Transcript: ENST00000298552.3 TSC1-001

Summary