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)