TRAPPC9

  • 30
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
TRAPPC9 (HGNC:30832) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
trafficking protein particle complex subunit 9
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
No previous names found
Alias symbols
IKBKBBP, NIBP, KIAA1882, T1, TRS120, MRT13
%HI
53.39(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0(Read more about gnomAD pLI score)
LOEUF
0.73(Read more about gnomAD LOEUF score)
Cytoband
8q24.3
Genomic Coordinates
GRCh37/hg19: chr8:140739968-141468678 NCBI Ensembl UCSC
GRCh38/hg38: chr8:139727725-140458579 NCBI Ensembl UCSC
MANE Select Transcript
NM_001160372.4 ENST00000438773.4 (Read more about MANE Select)
Function
Functions as an activator of NF-kappa-B through increased phosphorylation of the IKK complex. May function in neuronal cells differentiation. May play a role in vesicular transport from endoplasmic reticulum to Golgi. {ECO:0000269|PubMed:15951441}. (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-34621
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype (30)
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Last Evaluated:
08/06/2015

Haploinsufficiency (HI) Score Details

HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype (Disclaimer)
HI Disease:
  • intellectual disability, autosomal recessive 13 Monarch
HI Evidence Comments:
Variants in TRAPPC9 have been identified in individuals with autosomal recessive intellectual disability (OMIM 613192). Recently, a de novo missense variant in TRAPPC9, p. R970Q, has been identified in an individual diagnosed in schizophrenia (PMID: 24776741). Additional information is needed to determine the role heterozygous variants in TRAPPC9 may play in neurodevelopmental disorders.

Triplosensitivity (TS) Score Details

TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)

Genomic View

Select assembly: (NC_000008.10) (NC_000008.11)