Description

7-dehydrocholesterol reductase [Source:HGNC Symbol;Acc:HGNC:2860]

Synonyms

SLOS

Location
Gene

This transcript is a product of gene ENSG00000172893

This gene has 12 transcripts (splice variants) Show transcript tableHide transcript table

NameTranscript IDbpProteinBiotypeCCDSUniProtRefSeqFlags
DHCR7-001ENST000003555272666475 aa
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
CCDS8200A0A024R5F7 B4E1K5 E9PIP9
E9PJ54 E9PQ71 E9PRL8
Q9UBM7
NM_001163817
NM_001360
NP_001157289
NP_001351
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
Glossary entry for APPRIS
APPRIS website
DHCR7-003ENST000004077212601475 aa
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
CCDS8200A0A024R5F7 B4E1K5 E9PIP9
E9PJ54 E9PQ71 E9PRL8
Q9UBM7
-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
Glossary entry for APPRIS
APPRIS website
DHCR7-006ENST000005273161005258 aa
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
-E9PM00 -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.

DHCR7-013ENST00000525137996245 aa
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
-H0YEJ5 -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.

DHCR7-004ENST00000534795979116 aa
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
---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.

DHCR7-011ENST00000526780968164 aa
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
-E9PIP9 E9PJ54 E9PQ71
E9PRL8
-CDS 3' incomplete3' truncation in transcript evidence prevents annotation of the end of the CDS.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.

DHCR7-014ENST00000533800837221 aa
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
-H0YE57 -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.

DHCR7-005ENST0000052745257991 aa
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
-E9PRL8 -CDS 3' incomplete3' truncation in transcript evidence prevents annotation of the end of the CDS.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.

DHCR7-008ENST0000052999052573 aa
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
-E9PLZ2 -CDS 3' incomplete3' truncation in transcript evidence prevents annotation of the end of the CDS.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.

DHCR7-010ENST00000525346520107 aa
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
-E9PQ71 E9PRL8 -CDS 3' incomplete3' truncation in transcript evidence prevents annotation of the end of the CDS.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.

DHCR7-009ENST00000531364507105 aa
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
-E9PQ71 E9PRL8 -CDS 3' incomplete3' truncation in transcript evidence prevents annotation of the end of the CDS.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.

DHCR7-012ENST00000534701456No 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.

Protein domains for ENSP00000435956.1

Transcript-based displays