Gene: BLM ENSG00000197299

Description

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

Gene Synonyms

BS, RECQ2, RECQL2, RECQL3

Location

Chromosome 15: 91,260,558-91,358,859 forward strand.

GRCh37:CM000677.1

About this gene

This gene has 10 transcripts (splice variants), 4 paralogues and is associated with 71 phenotypes.

Transcripts

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		-	-	-

EMBL-EBI User Survey 2024

Gene: BLM ENSG00000197299

Summary

EMBL-EBI User Survey 2024

Favourite species

All species

Recent locations

Gene: BLM ENSG00000197299

Summary