Transcript: ENST00000438599.2 CC2D2A-203

Description

coiled-coil and C2 domain containing 2A [Source:HGNC Symbol;Acc:29253]

Gene Synonyms

JBTS9, KIAA1345, MKS6

Location

Chromosome 4: 15,471,489-15,483,886 forward strand.

About this transcript

This transcript has 6 exons, is annotated with 1 domain and feature, is associated with 5136 variant alleles and maps to 244 oligo probes.

Gene

This transcript is a product of gene ENSG00000048342.11 Show transcript tableHide transcript table

Transcript ID	Name	bp	Protein	Translation ID	Biotype	CCDS	UniProt Match	RefSeq	Flags
ENST00000424120.1	CC2D2A-202	5249	1620aa	ENSP00000403465.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS47026	D6R9V3 Q9P2K1	-	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,
ENST00000413206.1	CC2D2A-201	5234	1620aa	ENSP00000398391.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS47026	D6R9V3 Q9P2K1	-	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000503292.1	CC2D2A-002	5175	1620aa	ENSP00000421809.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS47026	D6R9V3 Q9P2K1	NM_001080522.2	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000389652.5	CC2D2A-010	4790	1512aa	ENSP00000374303.5	Gene/transcipt that contains an open reading frame (ORF).Protein coding		Q9P2K1	-	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000512702.1	CC2D2A-003	1949	588aa	ENSP00000422875.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		D6R9V3	-	3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete,
ENST00000438599.2	CC2D2A-203	1673	122aa	ENSP00000401154.2	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS47027	Q9P2K1	-	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000511544.1	CC2D2A-004	1659	122aa	ENSP00000426109.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS47027	Q9P2K1	NM_020785.2	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000515124.1	CC2D2A-005	1474	111aa	ENSP00000424368.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS54744	Q9P2K1	NM_001164720.1	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000503658.1	CC2D2A-006	630	122aa	ENSP00000426846.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS47027	Q9P2K1	-	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000507954.1	CC2D2A-013	548	111aa	ENSP00000427221.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS54744	Q9P2K1	-	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000506643.1	CC2D2A-012	3259	903aa	ENSP00000422931.1	Nonsense mediated decay		-	-	5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete,
ENST00000513811.1	CC2D2A-008	2744	No protein	-	Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript		-	-	-
ENST00000514039.1	CC2D2A-016	425	No protein	-	Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript		-	-	-
ENST00000514450.1	CC2D2A-009	1124	No protein	-	An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron		-	-	-
ENST00000512202.1	CC2D2A-014	600	No protein	-	An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron		-	-	-
ENST00000510220.1	CC2D2A-017	406	No protein	-	An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron		-	-	-
ENST00000513035.1	CC2D2A-015	395	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: 6, Coding exons: 5, Transcript length: 1,673 bps, Translation length: 122 residues

Uniprot

This transcript corresponds to the following Uniprot identifiers: Q9P2K1

CCDS

This transcript is a member of the Human CCDS set: CCDS47027

Version

ENST00000438599.2

Type

Protein coding

Annotation Method

Annotation produced by the Ensembl genebuild.

Stop codons

This transcript has a variant, rs1861050, that causes a stop codon to be gained in at least 10% of HapMap or 1000 Genome population(s) CSHL-HAPMAP:HapMap-YRI, CSHL-HAPMAP:HAPMAP-CHD, CSHL-HAPMAP:HAPMAP-MKK, CSHL-HAPMAP:HapMap-JPT.

Alternative transcripts

This transcript corresponds to the following database identifiers:

Havana transcript having same CDS:	OTTHUMT00000359908 (version 1)

GENCODE basic gene

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

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Transcript: ENST00000438599.2 CC2D2A-203

Summary