Description

peripheral myelin protein 22 [Source:HGNC Symbol;Acc:HGNC:9118]

Synonyms

GAS-3, HNPP, Sp110

Location
About this transcript

This transcript has 5 exons, is annotated with 15 domains and features, is associated with 179 variations and maps to 13 oligo probes.

Gene
NameTranscript IDbpProteinTranslation IDBiotypeCCDSUniProtRefSeqFlags
PMP22-201ENST000006124921822160aaENSP00000484631
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
CCDS11168Q01453 Q6FH25 NM_001281455
NM_153322
NP_001268384
NP_696997
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.

GENCODE basicThe GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).APPRIS PI1APPRIS principal isoform
Glossary entry for APPRIS
APPRIS website
PMP22-001ENST000003959381817160aaENSP00000379269
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
CCDS11168Q01453 Q6FH25 NM_153321
NP_696996
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 PI1APPRIS principal isoform
Glossary entry for APPRIS
APPRIS website
PMP22-002ENST000003122801810160aaENSP00000308937
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
CCDS11168Q01453 Q6FH25 NM_000304
NM_001281456
NP_000295
NP_001268385
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 PI1APPRIS principal isoform
Glossary entry for APPRIS
APPRIS website
PMP22-004ENST00000494511872161aaENSP00000462782
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
-J3KT36 -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.

GENCODE basicThe GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).
PMP22-003ENST00000395936816118aaENSP00000379268
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
-A8MU75 -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.

GENCODE basicThe GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).
PMP22-008ENST00000426385571125aaENSP00000409824
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
-J3KQW0 -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.

GENCODE basicThe GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).
PMP22-006ENST0000058058442851aaENSP00000464468
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
-J3QS08 -CDS 3' incomplete3' truncation in transcript evidence prevents annotation of the end 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.

PMP22-005ENST00000471150637No 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.

PMP22-007ENST00000580497576No 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.

Statistics

Exons: 5 Coding exons: 4 Transcript length: 1,810 bps Translation length: 160 residues

CCDS

This transcript is a member of the Human CCDS set: CCDS11168

Uniprot

This transcript corresponds to the following Uniprot identifiers: Q01453

Transcript Support Level (TSL)

TSL:1

Ensembl version

ENST00000312280.6

Type

Known protein coding

Annotation Method

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

Alternative transcripts

This transcript corresponds to the following database identifiers:

Havana transcript:
GENCODE basic gene

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

Transcript-based displays