TMCO6

transmembrane and coiled-coil domains 6, the group of Armadillo like helical domain containing

Basic information

Region (hg38): 5:140639435-140645408

Links

ENSG00000113119NCBI:55374HGNC:28814Uniprot:Q96DC7AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the TMCO6 gene.

  • not_specified (60 variants)
  • not_provided (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TMCO6 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000018502.5. Only rare variants are included in the table.

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.

EffectPLPVUSLBBSum
synonymous
2
clinvar
2
missense
54
clinvar
5
clinvar
59
nonsense
0
start loss
0
frameshift
0
splice donor/acceptor (+/-2bp)
0
Total 0 0 54 7 0
Loading clinvar variants...

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
TMCO6protein_codingprotein_codingENST00000394671 125982
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
1.27e-90.7931247190951248140.000381
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense0.4302492690.9260.00001433101
Missense in Polyphen77100.390.767041216
Synonymous0.1791131150.9790.000005851074
Loss of Function1.571826.80.6720.00000138278

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.0009900.000989
Ashkenazi Jewish0.000.00
East Asian0.001110.00111
Finnish0.000.00
European (Non-Finnish)0.0003020.000300
Middle Eastern0.001110.00111
South Asian0.0003270.000327
Other0.0006610.000659

dbNSFP

Source: dbNSFP

Recessive Scores

pRec
0.101

Intolerance Scores

loftool
0.665
rvis_EVS
-0.05
rvis_percentile_EVS
50.22

Haploinsufficiency Scores

pHI
0.137
hipred
N
hipred_score
0.289
ghis
0.493

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
S
essential_gene_gene_trap
N
gene_indispensability_pred
N
gene_indispensability_score
0.127

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Tmco6
Phenotype

Gene ontology

Biological process
protein import into nucleus
Cellular component
cell;integral component of membrane
Molecular function
protein binding;nuclear import signal receptor activity