TRAPPC8

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous			3 clinvar	2 clinvar		5
missense			191 clinvar	4 clinvar	1 clinvar	196
nonsense			5 clinvar			5
start loss						0
frameshift			2 clinvar			2
splice donor/acceptor (+/-2bp)			8 clinvar			8
Total	0	0	209	6	1	216

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 50 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_014939.5	RefSeq	NP_055754.3	29	MANE Select
ENST00000283351.10	Ensembl	ENSP00000283351.4	29	MANE Select
ENST00000578658.1	Ensembl	ENSP00000463973.1	5	Standard
ENST00000580104.5	Ensembl	ENSP00000462550.1	20	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

Vesicle-mediated transport
Membrane Trafficking
Rab regulation of trafficking
RAB GEFs exchange GTP for GDP on RABs

Biological Process

autophagosome assembly
endoplasmic reticulum to Golgi vesicle-mediated transport
Golgi organization
autophagy of peroxisome
protein localization by the Cvt pathway

Molecular Function

protein binding
Rab guanyl-nucleotide exchange factor activity

Cellular Component

phagophore assembly site
cytosol
TRAPP complex
cytoplasmic vesicle
TRAPPIII protein complex

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000283351
Coding exons: 29
Length: 123964
Individuals with no LoFs: 125731
Homozygous LoFs: 0
Heterozygous LoFs: 6
Defined: 125737
p: 0.0000239

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	1.21	634	726	0.874	0.0000360	9388
Missense (PolyPhen)		138	232.51	0.59351		3045
Synonymous	-1.59	283	251	1.13	0.0000123	2695
Loss of Function	7.55	5	76.0	0.0658	0.00000409	954

Population LoF Frequency

Population	CAF	p-value	Status
African	0	0.0	absent
Latino/Admixed American	0.000029	0.000029	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0.000054	0.000054	rare
Finnish	0	0.0	absent
European (Non-Finnish)	0.000027	0.000026	rare
South Asian	0.000069	0.000033	rare
Other	0	0.0	absent

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: May be involved in endoplasmic reticulum to Golgi apparatus trafficking at a very early stage. {ECO:0000269|PubMed:21525244}.;

Recessive Scores

pRec: 0.0963

Intolerance Scores

RVIS EVS: 0.72
RVIS percentile EVS: 85.86

Essentials

Essential (CRISPR): E
Essential (CRISPR2): E
Essential (gene trap): E
Indispensability pred.: N
Indispensability score: 0.114

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	High
Cancer	High	Medium	High