SYNRG

synergin gamma

Basic information

Region (hg38): 17:37514807-37609472

Previous symbols: [ "AP1GBP1" ]

Links

ENSG00000275066 ∙ NCBI:11276 ∙ OMIM:607291 ∙ HGNC:557 ∙ Uniprot:Q9UMZ2 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the SYNRG gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the SYNRG gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				6	1	7
missense			63	10	1	74
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)			1			1
splice region			1	2		3
non coding						0
Total	0	0	64	16	2

Variants in SYNRG

This is a list of pathogenic ClinVar variants found in the SYNRG region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
17-37520174-C-T			Uncertain significance (Jul 01, 2019)
17-37520535-T-C			Likely benign (Apr 01, 2022)
17-37520597-T-C		not specified	Uncertain significance (Aug 08, 2022)
17-37520637-G-C		not specified	Uncertain significance (May 31, 2023)
17-37520644-T-C		not specified	Uncertain significance (Sep 27, 2021)
17-37536006-G-A		SYNRG-related disorder	Likely benign (Oct 28, 2019)
17-37536023-C-T		not specified	Uncertain significance (Oct 12, 2021)
17-37536040-A-G			Uncertain significance (Jun 16, 2022)
17-37536066-C-G		SYNRG-related disorder	Likely benign (Aug 28, 2019)
17-37536133-G-A		SYNRG-related disorder	Likely benign (Sep 13, 2019)
17-37538414-T-C		not specified	Uncertain significance (Sep 27, 2022)
17-37540421-C-T		not specified	Uncertain significance (Sep 20, 2023)
17-37540434-C-T		SYNRG-related disorder	Likely benign (Sep 06, 2019)
17-37540466-A-C		SYNRG-related disorder	Uncertain significance (Nov 10, 2022)
17-37540484-G-A		not specified	Uncertain significance (Dec 06, 2024)
17-37540508-C-T		SYNRG-related disorder	Uncertain significance (Oct 18, 2023)
17-37541992-G-C		not specified	Uncertain significance (Aug 16, 2022)
17-37542111-C-T		SYNRG-related disorder	Likely benign (Jan 13, 2022)
17-37542154-G-A		not specified	Uncertain significance (Oct 25, 2024)
17-37542156-G-T		not specified	Uncertain significance (Jul 13, 2022)
17-37542185-C-G		SYNRG-related disorder	Benign (Nov 08, 2019)
17-37542190-G-A		not specified	Uncertain significance (Mar 15, 2024)
17-37542211-A-G		not specified	Uncertain significance (Sep 14, 2022)
17-37542214-T-G		SYNRG-related disorder	Likely benign (Feb 22, 2019)
17-37542265-G-A		not specified	Likely benign (Mar 16, 2022)

GnomAD

Source: gnomAD

dbNSFP

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

Haploinsufficiency Scores

• pHI: 0.0539
• hipred: N
• hipred_score: 0.383

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.781

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Synrg

Gene ontology

• Biological process: intracellular protein transport;endocytosis
• Cellular component: cytoplasm;Golgi apparatus;AP-1 adaptor complex
• Molecular function: protein binding