Description

alpha thalassemia/mental retardation syndrome X-linked [Source:HGNC Symbol;Acc:HGNC:886]

Synonyms

JMS, RAD54, XH2, XNP

Location
INSDC coordinates

chromosome:GRCh38:CM000685.2:77504878:77786269:1

About this gene

This gene has 19 transcripts (splice variants), 60 orthologues, 3 paralogues, is a member of 3 Ensembl protein families and is associated with 12 phenotypes.

NameTranscript IDbpProteinTranslation IDBiotypeCCDSUniProtRefSeqFlags
ATRX-001ENST00000373344112202492aaENSP00000362441
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
CCDS14434A4LAA3 P46100 NM_000489
NP_000480
TSL:1

TSL1: All splice junctions of the transcript are supported by at least one non-suspect mRNA.

The Transcript Support Level (TSL) is a method to highlight the well-supported and poorly-supported transcript models for users. The method relies on the primary data that can support full-length transcript structure: mRNA and EST alignments supplied by UCSC and Ensembl.

GENCODE basicThe GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).APPRIS PI4APPRIS candidate principal isoform (longest CCDS)
Glossary entry for APPRIS
APPRIS website
ATRX-002ENST00000395603102182454aaENSP00000378967
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
CCDS14435P46100 NM_138270
NP_612114
TSL:1

TSL1: All splice junctions of the transcript are supported by at least one non-suspect mRNA.

The Transcript Support Level (TSL) is a method to highlight the well-supported and poorly-supported transcript models for users. The method relies on the primary data that can support full-length transcript structure: mRNA and EST alignments supplied by UCSC and Ensembl.

GENCODE basicThe GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).APPRIS ALT2APPRIS candidate principal isoform that appears to be conserved in fewer than three tested non-primate species
Glossary entry for APPRIS
APPRIS website
ATRX-010ENST0000062416642721351aaENSP00000485103
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
-A0A096LNL9 -CDS 3' incomplete3' truncation in transcript evidence prevents annotation of the end of the CDS.TSL:1

TSL1: All splice junctions of the transcript are supported by at least one non-suspect mRNA.

The Transcript Support Level (TSL) is a method to highlight the well-supported and poorly-supported transcript models for users. The method relies on the primary data that can support full-length transcript structure: mRNA and EST alignments supplied by UCSC and Ensembl.

ATRX-004ENST000006240323071954aaENSP00000485253
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
-A0A096LNW1 -CDS 3' incomplete3' truncation in transcript evidence prevents annotation of the end of the CDS.TSL:1

TSL1: All splice junctions of the transcript are supported by at least one non-suspect mRNA.

The Transcript Support Level (TSL) is a method to highlight the well-supported and poorly-supported transcript models for users. The method relies on the primary data that can support full-length transcript structure: mRNA and EST alignments supplied by UCSC and Ensembl.

ATRX-005ENST000004934702967293aaENSP00000485408
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
-A0A096LP59 -CDS 5' incomplete5' truncation in transcript evidence prevents annotation of the start of the CDS.TSL:1

TSL1: All splice junctions of the transcript are supported by at least one non-suspect mRNA.

The Transcript Support Level (TSL) is a method to highlight the well-supported and poorly-supported transcript models for users. The method relies on the primary data that can support full-length transcript structure: mRNA and EST alignments supplied by UCSC and Ensembl.

ATRX-009ENST000006233211860528aaENSP00000485127
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
-A0A096LNN3 -CDS 3' incomplete3' truncation in transcript evidence prevents annotation of the end of the CDS.TSL:1

TSL1: All splice junctions of the transcript are supported by at least one non-suspect mRNA.

The Transcript Support Level (TSL) is a method to highlight the well-supported and poorly-supported transcript models for users. The method relies on the primary data that can support full-length transcript structure: mRNA and EST alignments supplied by UCSC and Ensembl.

ATRX-007ENST00000400866814198aaENSP00000383663
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
-H0Y3T0 -CDS 5' incomplete5' truncation in transcript evidence prevents annotation of the start of the CDS.TSL:5

TSL5: No single transcript (mRNA or EST) supports this transcript model's structure.

The Transcript Support Level (TSL) is a method to highlight the well-supported and poorly-supported transcript models for users. The method relies on the primary data that can support full-length transcript structure: mRNA and EST alignments supplied by UCSC and Ensembl.

ATRX-012ENST0000062296062847aaENSP00000485587
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
-A0A096LPG6 -CDS 3' incomplete3' truncation in transcript evidence prevents annotation of the end of the CDS.TSL:5

TSL5: No single transcript (mRNA or EST) supports this transcript model's structure.

The Transcript Support Level (TSL) is a method to highlight the well-supported and poorly-supported transcript models for users. The method relies on the primary data that can support full-length transcript structure: mRNA and EST alignments supplied by UCSC and Ensembl.

ATRX-015ENST00000625063593198aaENSP00000485099
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
-A0A096LNL6 -CDS 5' and 3' incomplete5' and 3' truncations in transcript evidence prevent annotation of the start and the end of the CDS.TSL:5

TSL5: No single transcript (mRNA or EST) supports this transcript model's structure.

The Transcript Support Level (TSL) is a method to highlight the well-supported and poorly-supported transcript models for users. The method relies on the primary data that can support full-length transcript structure: mRNA and EST alignments supplied by UCSC and Ensembl.

ATRX-013ENST00000624668583108aaENSP00000485100
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
-A0A096LNL7 -CDS 3' incomplete3' truncation in transcript evidence prevents annotation of the end of the CDS.TSL:5

TSL5: No single transcript (mRNA or EST) supports this transcript model's structure.

The Transcript Support Level (TSL) is a method to highlight the well-supported and poorly-supported transcript models for users. The method relies on the primary data that can support full-length transcript structure: mRNA and EST alignments supplied by UCSC and Ensembl.

ATRX-003ENST0000048028310455164aaENSP00000480196
 
Nonsense mediated decayTranscript is thought to undergo nonsense mediated decay, a process which detects nonsense mutations and prevents the expression of truncated or erroneous proteins.
-A0A087WWG0 -TSL:1

TSL1: All splice junctions of the transcript are supported by at least one non-suspect mRNA.

The Transcript Support Level (TSL) is a method to highlight the well-supported and poorly-supported transcript models for users. The method relies on the primary data that can support full-length transcript structure: mRNA and EST alignments supplied by UCSC and Ensembl.

ATRX-018ENST00000623316803175aaENSP00000485274
 
Nonsense mediated decayTranscript is thought to undergo nonsense mediated decay, a process which detects nonsense mutations and prevents the expression of truncated or erroneous proteins.
-A0A096LNX6 -CDS 5' incomplete5' truncation in transcript evidence prevents annotation of the start of the CDS.TSL:5

TSL5: No single transcript (mRNA or EST) supports this transcript model's structure.

The Transcript Support Level (TSL) is a method to highlight the well-supported and poorly-supported transcript models for users. The method relies on the primary data that can support full-length transcript structure: mRNA and EST alignments supplied by UCSC and Ensembl.

ATRX-016ENST0000062324272566aaENSP00000485183
 
Nonsense mediated decayTranscript is thought to undergo nonsense mediated decay, a process which detects nonsense mutations and prevents the expression of truncated or erroneous proteins.
-A0A096LNR8 -CDS 5' incomplete5' truncation in transcript evidence prevents annotation of the start of the CDS.TSL:3

TSL3:The only support for this transcript 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. The method relies on the primary data that can support full-length transcript structure: mRNA and EST alignments supplied by UCSC and Ensembl.

ATRX-014ENST00000624193463No protein-
 
Processed transcriptTranscripts that don't contain an open reading frame (ORF) and cannot be placed in one of the other categories.
---TSL:4

TSL4:The best supporting EST for this transcript is flagged as suspect.

The Transcript Support Level (TSL) is a method to highlight the well-supported and poorly-supported transcript models for users. The method relies on the primary data that can support full-length transcript structure: mRNA and EST alignments supplied by UCSC and Ensembl.

ATRX-011ENST000006237067245No protein-
 
Retained intronAlternatively spliced transcript that is believed to contain intronic sequence relative to other coding transcripts in a given locus.
---TSL:2

TSL2: The best supporting mRNA is flagged as suspect or the support is from multiple ESTs.

The Transcript Support Level (TSL) is a method to highlight the well-supported and poorly-supported transcript models for users. The method relies on the primary data that can support full-length transcript structure: mRNA and EST alignments supplied by UCSC and Ensembl.

ATRX-017ENST00000624403583No protein-
 
Retained intronAlternatively spliced transcript that is believed to contain intronic sequence relative to other coding transcripts in a given locus.
---TSL:3

TSL3:The only support for this transcript 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. The method relies on the primary data that can support full-length transcript structure: mRNA and EST alignments supplied by UCSC and Ensembl.

ATRX-019ENST00000624766580No protein-
 
Retained intronAlternatively spliced transcript that is believed to contain intronic sequence relative to other coding transcripts in a given locus.
---TSL:2

TSL2: The best supporting mRNA is flagged as suspect or the support is from multiple ESTs.

The Transcript Support Level (TSL) is a method to highlight the well-supported and poorly-supported transcript models for users. The method relies on the primary data that can support full-length transcript structure: mRNA and EST alignments supplied by UCSC and Ensembl.

ATRX-006ENST00000460639461No protein-
 
Retained intronAlternatively spliced transcript that is believed to contain intronic sequence relative to other coding transcripts in a given locus.
---TSL:3

TSL3:The only support for this transcript 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. The method relies on the primary data that can support full-length transcript structure: mRNA and EST alignments supplied by UCSC and Ensembl.

ATRX-008ENST00000479487408No protein-
 
Retained intronAlternatively spliced transcript that is believed to contain intronic sequence relative to other coding transcripts in a given locus.
---TSL:3

TSL3:The only support for this transcript 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. The method relies on the primary data that can support full-length transcript structure: mRNA and EST alignments supplied by UCSC and Ensembl.

Gene-based displays