Gene: SF3B1 ENSG00000115524

Description

splicing factor 3b, subunit 1, 155kDa [Source:HGNC Symbol;Acc:10768]

Gene Synonyms

Hsh155, MDS, PRP10, PRPF10, Prp10, SAP155, SF3b155

Location

Chromosome 2: 198,254,508-198,299,815 reverse strand.

GRCh37:CM000664.1

About this gene

This gene has 12 transcripts (splice variants) and is associated with 126 phenotypes.

Transcripts

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Transcript ID	Name	bp	Protein	Translation ID	Biotype	CCDS	UniProt Match	RefSeq	Flags
ENST00000335508.6	SF3B1-001	6526	1304aa	ENSP00000335321.5	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS33356	F8WC19 O75533 Q9NTB4	NM_012433.2	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000487698.1	SF3B1-004	2127	154aa	ENSP00000419896.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		B4DGZ4 F8WC19	-	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000424674.1	SF3B1-012	723	241aa	ENSP00000409435.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		-	-	5' and 3' truncations in transcript evidence prevent annotation of the start and the end of the CDS.CDS 5' and 3' incomplete,
ENST00000414963.2	SF3B1-014	651	144aa	ENSP00000402997.2	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS46479	F8WC19 O75533	NM_001005526.1	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000409915.4	SF3B1-005	600	144aa	ENSP00000428820.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS46479	F8WC19 O75533	-	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000414174.1	SF3B1-003	593	37aa	ENSP00000392117.1	Nonsense mediated decay		F8WC19	-	-
ENST00000462613.1	SF3B1-013	141	No protein	-	Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript		-	-	-
ENST00000470268.1	SF3B1-002	2003	No protein	-	An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron		-	-	-
ENST00000482158.1	SF3B1-010	772	No protein	-	An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron		-	-	-
ENST00000479532.1	SF3B1-007	587	No protein	-	An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron		-	-	-
ENST00000468925.1	SF3B1-008	510	No protein	-	An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron		-	-	-
ENST00000496458.1	SF3B1-011	475	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: SF3B1 ENSG00000115524

Summary