TRAPPC12
Basic information
Region (hg38): 2:3379674-3485094
Previous symbols: [ "TTC15" ]
Links
Phenotypes
GenCC
Source:
- early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome (Limited), mode of inheritance: AR
- early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome (Strong), mode of inheritance: AR
Clinical Genomic Database
Source:
Condition | Inheritance | Intervention Categories | Intervention/Rationale | Manifestation Categories | References |
---|---|---|---|---|---|
Encephalopathy, progressive, early-onset, with brain atrophy and spasticity (PEBAS) | AR | General | Genetic knowledge may be beneficial related to issues such as selection of optimal supportive care, informed medical decision-making, prognostic considerations, and avoidance of unnecessary testing | Neurologic | 28777934 |
ClinVar
This is a list of variants' phenotypes submitted to
- not provided (99 variants)
- Inborn genetic diseases (45 variants)
- Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome (30 variants)
- Progressive childhood encephalopathy (2 variants)
- not specified (2 variants)
- See cases (2 variants)
- TRAPPC12-related condition (1 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the TRAPPC12 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 | 20 | 15 | 35 | |||
missense | 71 | 85 | ||||
nonsense | 4 | |||||
start loss | 0 | |||||
frameshift | 5 | |||||
inframe indel | 1 | |||||
splice donor/acceptor (+/-2bp) | 4 | |||||
splice region ? | 1 | 1 | 3 | 1 | 1 | 7 |
non coding ? | 18 | |||||
Total | 5 | 9 | 74 | 36 | 28 |
Highest pathogenic variant AF is 0.0000131
Variants in TRAPPC12
This is a list of pathogenic ClinVar variants found in the TRAPPC12 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
Position | Type | Phenotype | Significance | ClinVar |
---|---|---|---|---|
2-3387642-G-A | Inborn genetic diseases | Uncertain significance (Dec 06, 2022) | ||
2-3387648-G-C | Inborn genetic diseases | Conflicting classifications of pathogenicity (Oct 16, 2023) | ||
2-3387652-C-T | Inborn genetic diseases | Uncertain significance (Nov 12, 2021) | ||
2-3387661-C-T | Uncertain significance (Jun 29, 2023) | |||
2-3387664-A-T | Inborn genetic diseases | Uncertain significance (May 01, 2023) | ||
2-3387673-AC-A | Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome | Likely pathogenic (-) | ||
2-3387678-C-T | Inborn genetic diseases | Uncertain significance (Sep 04, 2023) | ||
2-3387687-G-A | TRAPPC12-related disorder | Benign/Likely benign (Jan 22, 2024) | ||
2-3387692-T-A | TRAPPC12-related disorder | Likely benign (Aug 16, 2019) | ||
2-3387696-GA-TT | Uncertain significance (Nov 11, 2022) | |||
2-3387697-A-T | Inborn genetic diseases | Uncertain significance (Jan 23, 2024) | ||
2-3387711-C-G | Uncertain significance (May 22, 2023) | |||
2-3387731-C-T | TRAPPC12-related disorder | Likely benign (Aug 20, 2019) | ||
2-3387767-CG-C | Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome | Likely pathogenic (Jun 20, 2019) | ||
2-3387768-G-A | TRAPPC12-related disorder | Benign/Likely benign (Jan 25, 2024) | ||
2-3387779-G-A | Likely benign (Apr 11, 2023) | |||
2-3387798-G-A | Benign (Jan 17, 2024) | |||
2-3387799-C-T | Inborn genetic diseases | Likely benign (Feb 23, 2023) | ||
2-3387814-AAC-A | Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome | Likely pathogenic (-) | ||
2-3387821-G-T | Inborn genetic diseases | Uncertain significance (Feb 10, 2022) | ||
2-3387823-T-C | Inborn genetic diseases | Uncertain significance (Dec 07, 2021) | ||
2-3387866-CGCGGGCGACCTGGGCCGAGT-C | Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome | Likely pathogenic (Mar 29, 2024) | ||
2-3387867-G-A | Inborn genetic diseases | Uncertain significance (Oct 20, 2021) | ||
2-3387868-C-CGGGCGACCT | Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome | Uncertain significance (Sep 14, 2021) | ||
2-3387872-C-T | Likely benign (Jan 12, 2024) |
GnomAD
Source:
Gene | Type | Bio Type | Transcript | Coding Exons | Length |
---|---|---|---|---|---|
TRAPPC12 | protein_coding | protein_coding | ENST00000324266 | 11 | 105420 |
pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
---|---|---|---|---|---|---|
5.36e-16 | 0.0492 | 125685 | 0 | 63 | 125748 | 0.000251 |
Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
---|---|---|---|---|---|---|
Missense | 0.160 | 457 | 467 | 0.979 | 0.0000318 | 4744 |
Missense in Polyphen | 136 | 143.54 | 0.94748 | 1459 | ||
Synonymous | 0.371 | 213 | 220 | 0.968 | 0.0000184 | 1466 |
Loss of Function | 0.713 | 26 | 30.2 | 0.860 | 0.00000152 | 331 |
LoF frequencies by population
Ethnicity | Sum of pLOFs | p |
---|---|---|
African & African-American | 0.000770 | 0.000765 |
Ashkenazi Jewish | 0.000512 | 0.000496 |
East Asian | 0.000167 | 0.000163 |
Finnish | 0.00 | 0.00 |
European (Non-Finnish) | 0.000262 | 0.000237 |
Middle Eastern | 0.000167 | 0.000163 |
South Asian | 0.000251 | 0.000229 |
Other | 0.000163 | 0.000163 |
dbNSFP
Source:
- Function
- FUNCTION: Component of the TRAPP complex, which is involved in endoplasmic reticulum to Golgi apparatus trafficking at a very early stage (PubMed:21525244, PubMed:28777934). Also plays a role in chromosome congression, kinetochore assembly and stability and controls the recruitment of CENPE to the kinetochores (PubMed:25918224). {ECO:0000269|PubMed:21525244, ECO:0000269|PubMed:25918224, ECO:0000269|PubMed:28777934}.;
- Disease
- DISEASE: Encephalopathy, progressive, early-onset, with brain atrophy and spasticity (PEBAS) [MIM:617669]: An autosomal recessive, progressive encephalopathy characterized by central nervous system atrophy and dysfunction, spasticity, microcephaly, global developmental delay, and hearing loss. {ECO:0000269|PubMed:28777934}. Note=The disease is caused by mutations affecting the gene represented in this entry. Cells display a fragmented Golgi apparatus (PubMed:28777934). {ECO:0000269|PubMed:28777934}.;
- Pathway
- Vesicle-mediated transport;Membrane Trafficking;Rab regulation of trafficking;RAB GEFs exchange GTP for GDP on RABs
(Consensus)
Recessive Scores
- pRec
- 0.102
Intolerance Scores
- loftool
- rvis_EVS
- -0.39
- rvis_percentile_EVS
- 27.05
Haploinsufficiency Scores
- pHI
- 0.0838
- hipred
- N
- hipred_score
- 0.251
- ghis
- 0.529
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- N
- gene_indispensability_score
- 0.114
Gene Damage Prediction
All | Recessive | Dominant | |
---|---|---|---|
Mendelian | High | High | High |
Primary Immunodeficiency | High | High | High |
Cancer | High | High | High |
Mouse Genome Informatics
- Gene name
- Trappc12
- Phenotype
Gene ontology
- Biological process
- proteolysis;endoplasmic reticulum to Golgi vesicle-mediated transport;Golgi organization;protein complex oligomerization;metaphase plate congression;regulation of kinetochore assembly;positive regulation of protein localization to kinetochore
- Cellular component
- kinetochore;nucleus;endoplasmic reticulum-Golgi intermediate compartment;cytosol;TRAPP complex;perinuclear region of cytoplasm
- Molecular function
- endopeptidase activity;protein binding;Rab guanyl-nucleotide exchange factor activity