Description

Hermansky-Pudlak syndrome 5 [Source:HGNC Symbol;Acc:HGNC:17022]

Location
INSDC coordinates

chromosome:GRCh38:CM000673.2:18278668:18322198:1

Transcripts



This gene has 11 transcripts (splice variants) Show transcript tableHide transcript table

NameTranscript IDbpProteinBiotypeCCDSUniProtRefSeqFlags
HPS5-002ENST0000039625347251015 aa
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
CCDS7837F5GWM5 HPS5-002 Q9UPZ3
NM_007216
NP_009147
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).
HPS5-001ENST0000034921544911129 aa
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
CCDS7836F5GWM5 HPS5-001 Q9UPZ3
NM_181507
NP_852608
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 PIAPPRIS principal isoform [01-09-2014]
Glossary entry for APPRIS
APPRIS website
HPS5-005ENST0000043842041471015 aa
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
CCDS7837F5GWM5 HPS5-005 Q9UPZ3
NM_181508
NP_852609
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).
HPS5-003ENST000005318482160400 aa
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
-G3V159 HPS5-003 -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.

GENCODE basicThe GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).
HPS5-007ENST000005372581275263 aa
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
-F5H6Q8 HPS5-007 -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.

GENCODE basicThe GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).
HPS5-009ENST00000544218759160 aa
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
-F5GWM5 HPS5-009 -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.

HPS5-006ENST000003524601642No protein
 
Processed transcriptTranscripts that don't contain an open reading frame (ORF) and cannot be placed in one of the other categories.
-HPS5-006 -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.

HPS5-012ENST00000589545485No protein
 
Processed transcriptTranscripts that don't contain an open reading frame (ORF) and cannot be placed in one of the other categories.
-HPS5-012 -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.

HPS5-010ENST00000543728320No protein
 
Processed transcriptTranscripts that don't contain an open reading frame (ORF) and cannot be placed in one of the other categories.
-HPS5-010 -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.

HPS5-008ENST000005455611121No protein
 
Retained intronAlternatively spliced transcript that is believed to contain intronic sequence relative to other coding transcripts in a given locus.
-HPS5-008 -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.

HPS5-004ENST00000399287711No protein
 
Retained intronAlternatively spliced transcript that is believed to contain intronic sequence relative to other coding transcripts in a given locus.
-HPS5-004 -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.

Gene-based displays