SYNRG

protein-coding

synergin gamma

Gene summary

This gene encodes a protein that interacts with the gamma subunit of AP1 clathrin-adaptor complex. The AP1 complex is located at the trans-Golgi network and associates specific proteins with clathrin-coated vesicles. This encoded protein may act to connect the AP1 complex to other proteins. Alternatively spliced transcript variants that encode different isoforms have been described for this gene. [provided by RefSeq, Jul 2008]

Previous symbols:

AP1GBP1

MANE transcript

NM_007247.6

Inheritance

—

ClinVar variants

U:167B:24

Top phenotype

SYNRG-related disorder

Max pathogenic AF

—

Genomic locus

chr17:37,514,807-37,609,472

External References & Databases

Ensembl (ENSG00000275066)

Transcript & Mutation Effects

hg38 • Region Span ~94.7 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to SYNRG variants in ClinVar

3 Conditions Cataloged

not specifiedTotal: 161

SYNRG-related disorderTotal: 17

not providedTotal: 8

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_007247.6. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous				6 clinvar	1 clinvar	7
missense			161 clinvar	16 clinvar	1 clinvar	178
nonsense			3 clinvar			3
start loss						0
frameshift			1 clinvar			1
splice donor/acceptor (+/-2bp)			2 clinvar			2
Total	0	0	167	22	2	191

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 163 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_007247.6	RefSeq	NP_009178.3	22	MANE Select
ENST00000612223.5	Ensembl	ENSP00000483453.1	22	MANE Select
NM_001163544.3	RefSeq	NP_001157016.1	21	Standard
NM_001163545.3	RefSeq	NP_001157017.1	21	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

intracellular protein transport
endocytosis

Molecular Function

protein binding

Cellular Component

cytoplasm
Golgi apparatus
AP-1 adaptor complex

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: May play a role in endocytosis and/or membrane trafficking at the trans-Golgi network (TGN). May act by linking the adapter protein complex AP-1 to other proteins.;

Recessive Scores

pRec: 0.0980

Intolerance Scores

LoFtool: 0.618
RVIS EVS: -0.7
RVIS percentile EVS: 14.82

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: E
Indispensability score: 0.781

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	High
Cancer	Medium	Medium	Medium