Description

SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase [Source:HGNC Symbol;Acc:HGNC:19336]

Synonyms

bA545I5.2, FLJ90837, KIAA2023

INSDC coordinates

chromosome:GRCh38:CM000668.2:145864245:145964423:1

About this gene

This gene has 11 transcripts (splice variants), 66 orthologues, is a member of 3 Ensembl protein families and is associated with 203 phenotypes.

NameTranscript IDbpProteinTranslation IDBiotypeCCDSUniProtRefSeqFlags
SHPRH-001ENST0000036750572011683aaENSP00000356475
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
CCDS43513Q149N8 -TSL:5

Transcript Support Level 5, for transcripts that are not supported at all by either an mRNA or an 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 P2

PRINCIPAL2 - APPRIS candidate principal isoform (CCDS).

APPRIS is a system to annotate alternatively spliced transcripts based on a range of computational methods.

SHPRH-005ENST0000043809269941659aaENSP00000412797
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
CCDS47496Q149N8 NM_173082
NP_775105
TSL:1

Transcript Support Level 1, when transcripts 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).
SHPRH-004ENST0000027523366491683aaENSP00000275233
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
CCDS43513Q149N8 NM_001042683
NP_001036148
TSL:1

Transcript Support Level 1, when transcripts 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 P2

PRINCIPAL2 - APPRIS candidate principal isoform (CCDS).

APPRIS is a system to annotate alternatively spliced transcripts based on a range of computational methods.

SHPRH-202ENST0000062942773381687aaENSP00000486723
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
---GENCODE basicThe GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).APPRIS ALT1

ALTERNATIVE1 - APPRIS candidate principal isoform that is conserved in at least three tested non-primate species.

APPRIS is a system to annotate alternatively spliced transcripts based on a range of computational methods.

SHPRH-201ENST000003675035237660aaENSP00000356473
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
-K4DI94 -TSL:5

Transcript Support Level 5, for transcripts that are not supported at all by either an mRNA or an 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).
SHPRH-002ENST00000417762468129aaENSP00000403790
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
-Q5JT88 -CDS 5' incomplete5' truncation in transcript evidence prevents annotation of the start of the CDS.TSL:2

Transcript Support Level 2, when transcripts are supported by multiple ESTs or by an mRNA 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.

SHPRH-007ENST0000043335511660449aaENSP00000408019
 
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.
-H7C2W2 -CDS 5' incomplete5' truncation in transcript evidence prevents annotation of the start of the CDS.TSL:1

Transcript Support Level 1, when transcripts 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.

SHPRH-003ENST000005196325245929aaENSP00000430528
 
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.
-Q149N8 -TSL:5

Transcript Support Level 5, for transcripts that are not supported at all by either an mRNA or an 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.

SHPRH-009ENST0000052197792797aaENSP00000429548
 
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.
-H0YBI0 -CDS 5' incomplete5' truncation in transcript evidence prevents annotation of the start of the CDS.TSL:5

Transcript Support Level 5, for transcripts that are not supported at all by either an mRNA or an 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.

SHPRH-008ENST000005232762030No protein-
 
Retained intronAlternatively spliced transcript that is believed to contain intronic sequence relative to other coding transcripts in a given locus.
---TSL:2

Transcript Support Level 2, when transcripts are supported by multiple ESTs or by an mRNA 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.

SHPRH-010ENST00000520752821No protein-
 
Retained intronAlternatively spliced transcript that is believed to contain intronic sequence relative to other coding transcripts in a given locus.
---TSL:4

Transcript Support Level 4, for transcripts supported by an EST 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.

Gene-based displays