Transcript: ENST00000509802.1 FRAS1-010

Description

Fraser syndrome 1 [Source:HGNC Symbol;Acc:19185]

Gene Synonyms

DKFZp686I05113, FLJ14927, FLJ22031, KIAA1500

Location

Chromosome 4: 79,369,212-79,371,609 forward strand.

About this transcript

This transcript has 2 exons, is associated with 1034 variant alleles and maps to 63 oligo probes.

Gene

This transcript is a product of gene ENSG00000138759.13 Show transcript tableHide transcript table

Transcript ID	Name	bp	Protein	Translation ID	Biotype	CCDS	UniProt Match	RefSeq	Flags
ENST00000264895.6	FRAS1-201	12479	4012aa	ENSP00000264895.6	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS54771	Q4W596 Q69YV4 Q86XX4	NM_025074.6	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,
ENST00000512123.1	FRAS1-008	9869	2241aa	ENSP00000422834.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		Q69YV4	-	5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete,
ENST00000325942.6	FRAS1-001	7142	1976aa	ENSP00000326330.6	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS54772	Q4W596 Q86XX4	NM_001166133.1	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000264899.6	FRAS1-202	2654	737aa	ENSP00000264899.6	Gene/transcipt that contains an open reading frame (ORF).Protein coding		Q4W596 Q86XX4	-	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000502446.1	FRAS1-004	2217	666aa	ENSP00000423645.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		-	-	5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete,
ENST00000508900.1	FRAS1-005	2169	652aa	ENSP00000423809.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		-	-	5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete,
ENST00000510944.1	FRAS1-007	2125	426aa	ENSP00000422221.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		-	-	5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete,
ENST00000508909.1	FRAS1-003	2297	39aa	ENSP00000425583.1	Nonsense mediated decay		D6RCP6	-	-
ENST00000509802.1	FRAS1-010	564	No protein	-	An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron		-	-	-

Summary

Statistics

Exons: 2, Coding exons: 0, Transcript length: 564 bps,

Version

ENST00000509802.1

Type

Retained intron

Annotation Method

Manual annotation (determined on a case-by-case basis) from the Havana project.

Alternative transcripts

This transcript corresponds to the following database identifiers:

Havana transcript:	OTTHUMT00000362864 (version 1)

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Transcript: ENST00000509802.1 FRAS1-010

Summary