Transcript: ENST00000648994.2 GAN-203

Description

gigaxonin [Source:HGNC Symbol;Acc:HGNC:4137]

Gene Synonyms

GAN1, GIG, KLHL16

Location

Chromosome 16: 81,314,962-81,390,809 forward strand.

About this transcript

This transcript has 11 exons, is annotated with 27 domains and features, is associated with 45693 variant alleles and maps to 674 oligo probes.

Gene

This transcript is a product of gene ENSG00000261609.8 Show transcript tableHide transcript table

Transcript ID	Name	bp	Protein	Translation ID	Biotype	CCDS	UniProt Match	RefSeq Match	Flags
ENST00000648994.2	GAN-203	15159	597aa	ENSP00000497351.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS10935	A0A0S2Z4W2 Q9H2C0	NM_022041.4	The Matched Annotation from NCBI and EMBL-EBI is a collaboration between Ensembl/GENCODE and RefSeq. The MANE Select is a default transcript per human gene that is representative of biology, well-supported, expressed and highly-conserved. This transcript set matches GRCh38 and is 100% identical between RefSeq and Ensembl/GENCODE for 5' UTR, CDS, splicing and 3'UTR.MANE Select, 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, APPRIS P1: Transcript(s) expected to code for the main functional isoform based solely on the core modules in the APPRIS. APPRIS is a system to annotate alternatively spliced transcripts based on a range of computational methods to identify the most functionally important transcript(s) of a gene. APPRIS P1,
ENST00000648349.2	GAN-202	4163	58aa	ENSP00000498114.1	Nonsense mediated decay		A0A3B3ITY2	-	-
ENST00000650388.1	GAN-204	1325	58aa	ENSP00000498081.1	Nonsense mediated decay		A0A0S2Z5G5	-	-
ENST00000567335.1	GAN-201	222	No protein	-	Alternatively spliced transcript of a protein coding gene for which we cannot define a CDS.Protein coding CDS not defined		-	-	TSL 3: A transcript where the only support is from a single EST The Transcript Support Level (TSL) is a method to highlight the well-supported and poorly-supported transcript models for users, based on the type and quality of the alignments used to annotate the transcript. TSL:3,
ENST00000674788.1	GAN-205	1118	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: 11, Coding exons: 11, Transcript length: 15,159 bps, Translation length: 597 residues

MANE

This MANE Select transcript contains ENSP00000497351 and matches to NM_022041.4 and NP_071324.1

Uniprot

This transcript corresponds to the following Uniprot identifiers: Q9H2C0

CCDS

This transcript is a member of the Human CCDS set: CCDS10935

Version

ENST00000648994.2

Type

Protein coding

Annotation Method

Transcript where the Ensembl genebuild transcript and the Havana manual annotation have the same sequence, for every base pair. See article.

GENCODE basic gene

This transcript is a member of the Gencode basic gene set.

Transcript: ENST00000648994.2 GAN-203

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Transcript: ENST00000648994.2 GAN-203

Summary

About Us

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