TTC39C

tetratricopeptide repeat domain 39C, the group of Tetratricopeptide repeat domain containing

Basic information

Region (hg38): 18:23992773-24135970

Previous symbols: [ "C18orf17" ]

Links

ENSG00000168234NCBI:125488HGNC:26595Uniprot:Q8N584AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the TTC39C gene.

  • not_specified (55 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TTC39C gene is commonly pathogenic or not. These statistics are base on transcript: NM_001135993.2. 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
0
missense
55
clinvar
55
nonsense
0
start loss
0
frameshift
0
splice donor/acceptor (+/-2bp)
0
Total 0 0 55 0 0
Loading clinvar variants...

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
TTC39Cprotein_codingprotein_codingENST00000317571 14142838
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
0.0004361.001257200261257460.000103
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense1.432262950.7660.00001473822
Missense in Polyphen5587.3150.629911122
Synonymous0.6111031110.9260.000005651092
Loss of Function3.471233.80.3550.00000197393

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.00007010.0000701
Ashkenazi Jewish0.0001980.000198
East Asian0.0001140.000109
Finnish0.00009250.0000924
European (Non-Finnish)0.0001170.000114
Middle Eastern0.0001140.000109
South Asian0.0001310.000131
Other0.0001760.000163

dbNSFP

Source: dbNSFP

Intolerance Scores

loftool
0.866
rvis_EVS
-0.63
rvis_percentile_EVS
17.03

Haploinsufficiency Scores

pHI
0.164
hipred
Y
hipred_score
0.575
ghis
0.589

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
N
essential_gene_gene_trap
N
gene_indispensability_pred
N
gene_indispensability_score
0.397

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Ttc39c
Phenotype

Zebrafish Information Network

Gene name
ttc39c
Affected structure
otolith
Phenotype tag
abnormal
Phenotype quality
morphology