Description

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

Synonyms

BS, RECQ2, RECQL3

Location
Gene

This transcript is a product of gene ENSG00000197299

This gene has 10 transcripts (splice variants) Show transcript tableHide transcript table

NameTranscript IDLengthProteinBiotypeCCDSUniProtRefSeqFlags
BLM-001ENST000003551125258 bp1417 aa (view)
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
CCDS10363P54132 NM_000057
NM_001287246
NM_001287248
NP_000048
NP_001274175
NP_001274177
GENCODE basicThe GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).
BLM-002ENST000005605093966 bp1286 aa (view)
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
-H0YNU5 NM_001287247
NP_001274176
GENCODE basicThe GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).
BLM-003ENST000005597244510 bp413 aa (view)
 
Nonsense mediated decayTranscript is thought to undergo nonsense mediated decay, a process which detects nonsense mutations and prevents the expression of truncated or erroneous proteins.
-H0YLV8 -
BLM-004ENST000005601362023 bp No protein product
 
Processed transcriptTranscripts that don't contain an open reading frame (ORF) and cannot be placed in one of the other categories.
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BLM-010ENST000005608211024 bp No protein product
 
Processed transcriptTranscripts that don't contain an open reading frame (ORF) and cannot be placed in one of the other categories.
---
BLM-006ENST00000559282866 bp No protein product
 
Processed transcriptTranscripts that don't contain an open reading frame (ORF) and cannot be placed in one of the other categories.
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BLM-007ENST00000558599577 bp No protein product
 
Processed transcriptTranscripts that don't contain an open reading frame (ORF) and cannot be placed in one of the other categories.
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BLM-009ENST00000559426533 bp No protein product
 
Processed transcriptTranscripts that don't contain an open reading frame (ORF) and cannot be placed in one of the other categories.
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BLM-005ENST000005588251683 bp No protein product
 
Retained intronAlternatively spliced transcript that is believed to contain intronic sequence relative to other coding transcripts in a given locus.
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BLM-011ENST00000560559747 bp No protein product
 
Retained intronAlternatively spliced transcript that is believed to contain intronic sequence relative to other coding transcripts in a given locus.
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Statistics

Exons: 22 Coding exons: 21 Transcript length: 5,258 bps Translation length: 1,417 residues

CCDS

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

Uniprot

This transcript corresponds to the following Uniprot identifiers: P54132

Ensembl version

ENST00000355112.4

Type

Known protein coding

Prediction Method

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

Alternative transcripts

This transcript corresponds to the following database identifiers:

Havana transcript:
GENCODE basic gene

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

Transcript-based displays