Transcript: ENST00000355112.3 BLM-001

Description

Bloom syndrome, RecQ helicase-like [Source:HGNC Symbol;Acc:1058]

Gene Synonyms

BS, RECQ2, RECQL2, RECQL3

Location

Chromosome 15: 91,260,558-91,358,692 forward strand.

About this transcript

This transcript has 22 exons, is annotated with 35 domains and features, is associated with 44717 variant alleles and maps to 749 oligo probes.

Gene

This transcript is a product of gene ENSG00000197299.6 Show transcript tableHide transcript table

Transcript ID	Name	bp	Protein	Translation ID	Biotype	CCDS	UniProt Match	RefSeq	Flags
ENST00000355112.3	BLM-001	4555	1417aa	ENSP00000347232.3	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS10363	P54132	NM_001287246.1	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,
ENST00000560509.1	BLM-002	3966	1286aa	ENSP00000454158.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		H0YNU5	NM_001287247.1	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000559724.1	BLM-003	4510	413aa	ENSP00000453359.1	Nonsense mediated decay		H0YLV8	-	-
ENST00000560136.1	BLM-004	2023	No protein	-	Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript		-	-	-
ENST00000560821.1	BLM-010	1024	No protein	-	Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript		-	-	-
ENST00000559282.1	BLM-006	866	No protein	-	Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript		-	-	-
ENST00000558599.1	BLM-007	577	No protein	-	Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript		-	-	-
ENST00000559426.1	BLM-009	533	No protein	-	Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript		-	-	-
ENST00000558825.1	BLM-005	1683	No protein	-	An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron		-	-	-
ENST00000560559.1	BLM-011	747	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: 22, Coding exons: 21, Transcript length: 4,555 bps, Translation length: 1,417 residues

Uniprot

This transcript corresponds to the following Uniprot identifiers: P54132

CCDS

This transcript is a member of the Human CCDS set: CCDS10363

Version

ENST00000355112.3

Type

Protein coding

Annotation Method

Transcript where the Ensembl genebuild transcript and the Havana manual annotation have the same sequence, for every base pair. See article.

Alternative transcripts

This transcript corresponds to the following database identifiers:

Transcript having exact match between ENSEMBL and HAVANA:	OTTHUMT00000313495 (version 1)

GENCODE basic gene

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

Favourite species

All species

Recent locations

Transcript: ENST00000355112.3 BLM-001

Summary