Developmental Brain Disorder Gene Database

Missense Gene

Gene

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Missense

TRAPPC10

HGNC:11868 (protein-coding gene)

trafficking protein particle complex subunit 10

Unique Cases:: 3

Disorders:: ID, ASD

Last Updated:: November 4, 2024

Gene Summary:

Gene Function: Specific subunit of the TRAPP (transport protein particle) II complex, a highly conserved vesicle tethering complex that functions in late Golgi trafficking as a membrane tether. {ECO:0000269|PubMed:11805826, ECO:0000269|PubMed:31467083, ECO:0000269|PubMed:35298461}. (Source: Uniprot)

Previous symbols: TMEM1

Alias symbols: EHOC-1, TRS130

Chromosomal Location: 21q22.3

Genomic Coordinates: GRCh37:chr21:45432206-45526433; GRCh38:chr21:44012309-44106552

Associated Disorders: Intellectual Disability, Autism

Predictive Scores:

HI Score (Decipher): 47.8

pLI (gnomAD): 1.00

LOEUF (gnomAD): 0.25

Classifications from External Sources:

SFARI Score (SFARI): Not Scored

DDG2P Classification (DDG2P): No Classification

ClinGen Classification (ClinGen): No Classification

GenCC Classification (GenCC): Limited2 Strong1 Moderate1

Cases:

Publications:

Santos-Cortez RLP et. al., Novel candidate genes and variants underlying autosomal recessive neurodevelopmental disorders with intellectual disability., Hum Genet, 2018

Coe BP et. al., Neurodevelopmental disease genes implicated by de novo mutation and copy number variation morbidity., Nat Genet, 2019

External References:

NCBI: Gene

Integrates information from a wide range of species. A record may include nomenclature, Reference Sequences (RefSeqs), maps, pathways, variations, phenotypes, and links to genome-, phenotype-, and locus-specific resources worldwide.

NCBI: Gene

Gene Reviews

An international point-of-care resource for busy clinicians, provides clinically relevant and medically actionable information for inherited conditions in a standardized journal-style format, covering diagnosis, management, and genetic counseling for patients and their families.

Gene Reviews

DECIPHER

DECIPHER (DatabasE of genomiC varIation and Phenotype in Humans using Ensembl Resources) is an interactive web-based database which incorporates a suite of tools designed to aid the interpretation of genomic variants. DECIPHER enhances clinical diagnosis by retrieving information from a variety of bioinformatics resources relevant to the variant found in the patient.

DECIPHER

SFARI

SFARI Gene is an evolving online database designed to permit quick entrée into the genetics of autism, and to help researchers track the ever-expanding genetic risk factors that emerge in the literature.

SFARI

ClinGen

ClinGen is a National Institutes of Health (NIH)-funded resource dedicated to building an authoritative central resource that defines the clinical relevance of genes and variants for use in precision medicine and research.

ClinGen

GenCC

The GenCC DB provides information pertaining to the validity of gene-disease relationships, with a current focus on Mendelian diseases.

GenCC

gnomAD

The Genome Aggregation Database (gnomAD) is a resource developed by an international coalition of investigators, with the goal of aggregating and harmonizing both exome and genome sequencing data from a wide variety of large-scale sequencing projects, and making summary data available for the wider scientific community.