Transcript: ENST00000494973.1 APTX-029

Description

aprataxin [Source:HGNC Symbol;Acc:15984]

Gene Synonyms

AOA, AOA1, AXA1, EAOH, EOAHA, FHA-HIT, FLJ20157

Location

Chromosome 9: 32,987,775-33,001,626 reverse strand.

About this transcript

This transcript has 3 exons, is associated with 6567 variant alleles and maps to 211 oligo probes.

Gene

This transcript is a product of gene ENSG00000137074.14 Show transcript tableHide transcript table

Transcript ID	Name	bp	Protein	Translation ID	Biotype	CCDS	UniProt Match	RefSeq	Flags
ENST00000379813.3	APTX-202	1200	342aa	ENSP00000369141.3	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS47956	F5HRF8 Q7Z2E3	-	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,
ENST00000379817.2	APTX-011	2106	342aa	ENSP00000369145.2	Gene/transcipt that contains an open reading frame (ORF).Protein coding		F5HRF8 Q7Z2E3	-	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000379825.2	APTX-002	2023	306aa	ENSP00000369153.2	Gene/transcipt that contains an open reading frame (ORF).Protein coding		Q7Z2E3	-	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000309615.3	APTX-201	2018	306aa	ENSP00000311547.3	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS6532	Q7Z2E3	NM_175073.2	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000436040.2	APTX-203	1873	192aa	ENSP00000400806.2	Gene/transcipt that contains an open reading frame (ORF).Protein coding		Q7Z2E3	-	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000379819.1	APTX-003	1820	356aa	ENSP00000369147.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		F5HRF8 Q7Z2E3	-	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000397172.3	APTX-021	1740	284aa	ENSP00000380357.3	Gene/transcipt that contains an open reading frame (ORF).Protein coding		F8W6G5 Q7Z2E3	NM_001195252.1	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000468275.1	APTX-017	1455	342aa	ENSP00000420263.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		F5HRF8 Q7Z2E3	-	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000463596.1	APTX-007	1345	342aa	ENSP00000419846.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		F5HRF8 Q7Z2E3	NM_001195249.1	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000476858.1	APTX-006	1068	302aa	ENSP00000419042.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS56568	C9J8U3 C9JZ40 Q7Z2E3	NM_001195250.1	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000473221.1	APTX-025	687	216aa	ENSP00000419020.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		C9J8U3 C9JZ40	-	3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete,
ENST00000379812.5	APTX-030	599	198aa	ENSP00000369140.5	Gene/transcipt that contains an open reading frame (ORF).Protein coding		F8W6G5	-	3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete,
ENST00000477119.1	APTX-026	568	155aa	ENSP00000417649.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		C9J8U3	-	3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete,
ENST00000467331.1	APTX-012	2101	49aa	ENSP00000418733.1	Nonsense mediated decay		Q7Z2E3	-	-
ENST00000494649.1	APTX-009	2099	49aa	ENSP00000417634.1	Nonsense mediated decay		Q7Z2E3	-	-
ENST00000465003.1	APTX-001	1991	85aa	ENSP00000419430.1	Nonsense mediated decay		Q6JV79	-	-
ENST00000485479.1	APTX-010	1986	49aa	ENSP00000418144.1	Nonsense mediated decay		Q7Z2E3	-	-
ENST00000479656.1	APTX-004	1881	49aa	ENSP00000420071.1	Nonsense mediated decay		Q7Z2E3	-	-
ENST00000482687.1	APTX-015	1879	192aa	ENSP00000419289.1	Nonsense mediated decay		Q7Z2E3	-	-
ENST00000460940.1	APTX-016	1874	49aa	ENSP00000418311.1	Nonsense mediated decay		Q7Z2E3	-	-
ENST00000483148.1	APTX-014	1764	85aa	ENSP00000419723.1	Nonsense mediated decay		Q6JV79	-	-
ENST00000472896.1	APTX-013	1759	49aa	ENSP00000417804.1	Nonsense mediated decay		Q7Z2E3	-	-
ENST00000495360.1	APTX-008	1313	49aa	ENSP00000419623.1	Nonsense mediated decay		Q7Z2E3	-	-
ENST00000474658.2	APTX-028	952	74aa	ENSP00000417750.2	Nonsense mediated decay		-	-	5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete,
ENST00000478279.1	APTX-019	684	99aa	ENSP00000419597.1	Nonsense mediated decay		E7EVB7 Q6JV79	-	-
ENST00000464632.1	APTX-018	679	63aa	ENSP00000418069.1	Nonsense mediated decay		E7EUY4	-	-
ENST00000480031.1	APTX-027	674	52aa	ENSP00000417684.1	Nonsense mediated decay		F8WBD6	-	-
ENST00000473270.1	APTX-023	645	No protein	-	Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript		-	-	-
ENST00000486724.1	APTX-032	556	No protein	-	Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript		-	-	-
ENST00000460945.1	APTX-022	542	No protein	-	Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript		-	-	-
ENST00000489583.1	APTX-024	397	No protein	-	Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript		-	-	-
ENST00000496030.1	APTX-031	633	No protein	-	An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron		-	-	-
ENST00000494973.1	APTX-029	547	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: 3, Coding exons: 0, Transcript length: 547 bps,

Version

ENST00000494973.1

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:	OTTHUMT00000355335 (version 1)

Favourite species

All species

Recent locations

Transcript: ENST00000494973.1 APTX-029

Summary