Gene: SPTBN1 ENSG00000115306

Description

spectrin, beta, non-erythrocytic 1 [Source:HGNC Symbol;Acc:11275]

Gene Synonyms

ELF, HEL102, SPTB2, betaSpII

Location

Chromosome 2: 54,683,422-54,896,812 forward strand.

GRCh37:CM000664.1

About this gene

This gene has 6 transcripts (splice variants), 12 paralogues and is associated with 3 phenotypes.

Transcripts

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Transcript ID	Name	bp	Protein	Translation ID	Biotype	CCDS	UniProt Match	RefSeq	Flags
ENST00000356805.4	SPTBN1-001	8482	2364aa	ENSP00000349259.4	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS33198	B2ZZ89 D6W5C0 F8W6C1 Q01082 Q53RC4	NM_003128.2	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, A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic,
ENST00000333896.5	SPTBN1-002	9075	2155aa	ENSP00000334156.5	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS33199	Q01082 Q8WYB3	NM_178313.2	A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic,
ENST00000389980.3	SPTBN1-003	2164	690aa	ENSP00000374630.3	Gene/transcipt that contains an open reading frame (ORF).Protein coding		F8W6C1 Q53RC4	-	3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete,
ENST00000467371.1	SPTBN1-005	3332	No protein	-	An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron		-	-	-
ENST00000602898.1	SPTBN1-006	2942	No protein	-	An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron		-	-	-
ENST00000496323.1	SPTBN1-004	2225	No protein	-	An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron		-	-	-

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Gene: SPTBN1 ENSG00000115306

Summary