Description

synaptic Ras GTPase activating protein 1 [Source:HGNC Symbol;Acc:HGNC:11497]

Synonyms

KIAA1938, RASA5, SYNGAP

Location

Chromosome 6: 33,420,070-33,457,541 forward strand.

View alleles of this gene on alternate assemblies

INSDC coordinates

chromosome:GRCh38:CM000668.2:33420070:33457541:1

About this gene

This gene has 9 transcripts (splice variants), 1 gene allele and is associated with 4 phenotypes.

NameTranscript IDbpProteinTranslation IDBiotypeCCDSUniProtRefSeqFlags
SYNGAP1-001ENST0000062938098621343aaENSP00000486463
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
CCDS34434-NM_006772
NP_006763
GENCODE basicThe GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).APPRIS P1

PRINCIPAL1 - APPRIS candidate principal isoform.

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

SYNGAP1-010ENST0000041860058281285aaENSP00000403636
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
-Q96PV0 -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.

GENCODE basicThe GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).
SYNGAP1-003ENST0000042898243391284aaENSP00000412475
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
-Q96PV0 -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).
SYNGAP1-007ENST0000062864642641299aaENSP00000486431
 
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).
SYNGAP1-009ENST0000044937239301307aaENSP00000416519
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
-B7ZCA0 -CDS 3' incomplete3' truncation in transcript evidence prevents annotation of the end 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.

SYNGAP1-004ENST0000029374845561284aaENSP00000293748
 
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.
-A0A0A0MQZ2 -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.

SYNGAP1-005ENST00000495633260No protein-
 
Processed transcriptTranscripts that don't contain an open reading frame (ORF) and cannot be placed in one of the other categories.
---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.

SYNGAP1-002ENST000004795102073No 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.

SYNGAP1-008ENST00000470232394No protein-
 
Retained intronAlternatively spliced transcript that is believed to contain intronic sequence relative to other coding transcripts in a given locus.
---TSL:3

Transcript Support Level 3, when transcripts are supported by a single EST only.

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.

Stable ID

ENSG00000197283.11

Status

Current

Latest Version

ENSG00000197283.11

Release: 80 (current)

Assembly: GRCh38

Database: homo_sapiens_core_80_38

Associated archived IDs for this stable ID version

No associated IDs found

Gene-based displays