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.

• not_specified (141 variants)
• SYNRG-related_disorder (16 variants)
• not_provided (8 variants)

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. These statistics are base on transcript: NM_000007247.6. Only rare variants are included in the table.

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.

Effect	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				6	1	7
missense			137	16	1	154
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			1			1
Total	0	0	138	22	2

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