Description

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

Synonyms

BS, RECQ2, RECQL3

Location
About this transcript

This transcript has 22 exons, is annotated with 35 domains and features, is associated with 570 variations and maps to 47 oligo probes.

Gene
NameTranscript IDbpProteinTranslation IDBiotypeCCDSUniProtRefSeqFlags
BLM-001ENST0000035511252581417aaENSP00000347232
 
Protein coding
CCDS10363P54132 NM_000057
NM_001287246
NM_001287248
NP_000048
NP_001274175
NP_001274177
TSL:1GENCODE basicAPPRIS P1
BLM-002ENST0000056050939661286aaENSP00000454158
 
Protein coding
CCDS73782H0YNU5 NM_001287247
NP_001274176
TSL:1GENCODE basic
BLM-003ENST000005597244510413aaENSP00000453359
 
Nonsense mediated decay
-H0YLV8 -TSL:1
BLM-004ENST000005601362023No protein-
 
Processed transcript
---TSL:5
BLM-010ENST000005608211024No protein-
 
Processed transcript
---TSL:2
BLM-006ENST00000559282866No protein-
 
Processed transcript
---TSL:3
BLM-007ENST00000558599577No protein-
 
Processed transcript
---TSL:3
BLM-009ENST00000559426533No protein-
 
Processed transcript
---TSL:4
BLM-005ENST000005588251683No protein-
 
Retained intron
---TSL:5
BLM-011ENST00000560559747No protein-
 
Retained intron
---TSL:3
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

Transcript Support Level (TSL)

TSL:1

Ensembl version

ENST00000355112.7

Type

Known protein coding

Annotation 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