TUBA3E

tubulin alpha 3e, the group of Tubulins

Basic information

Region (hg38): 2:130191745-130198439

Links

ENSG00000152086NCBI:112714OMIM:619918HGNC:20765Uniprot:Q6PEY2AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

  • complex neurodevelopmental disorder (Limited), mode of inheritance: AR

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the TUBA3E gene.

  • not_specified (34 variants)
  • not_provided (7 variants)
  • Neurodevelopmental_disorder (1 variants)
  • Lissencephaly (1 variants)
  • Primary_microcephaly (1 variants)
  • Global_developmental_delay (1 variants)
  • Seizure (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TUBA3E gene is commonly pathogenic or not. These statistics are base on transcript: NM_000207312.3. 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
5
clinvar
5
missense
1
clinvar
33
clinvar
3
clinvar
37
nonsense
0
start loss
0
frameshift
0
splice donor/acceptor (+/-2bp)
1
clinvar
1
Total 0 1 34 8 0

Highest pathogenic variant AF is 0.000053316602

Loading clinvar variants...

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
TUBA3Eprotein_codingprotein_codingENST00000312988 56717
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
2.03e-80.25812501977221257480.00290
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense-0.2962992851.050.00001812921
Missense in Polyphen160145.11.10271495
Synonymous0.1441171190.9830.00000812892
Loss of Function0.5091315.10.8597.34e-7170

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.03800.0382
Ashkenazi Jewish0.000.00
East Asian0.0002180.000217
Finnish0.000.00
European (Non-Finnish)0.0004830.000475
Middle Eastern0.0002180.000217
South Asian0.0008500.000850
Other0.0009790.000978

dbNSFP

Source: dbNSFP

Function
FUNCTION: Tubulin is the major constituent of microtubules. It binds two moles of GTP, one at an exchangeable site on the beta chain and one at a non-exchangeable site on the alpha chain (By similarity). {ECO:0000250}.;
Pathway
Tight junction - Homo sapiens (human);Phagosome - Homo sapiens (human);Gap junction - Homo sapiens (human);Pathogenic Escherichia coli infection - Homo sapiens (human);Apoptosis - Homo sapiens (human);Pathogenic Escherichia coli infection;Parkin-Ubiquitin Proteasomal System pathway;Post-translational protein modification;Metabolism of proteins;Chaperonin-mediated protein folding;Formation of tubulin folding intermediates by CCT/TriC;Carboxyterminal post-translational modifications of tubulin;Protein folding;Cooperation of Prefoldin and TriC/CCT in actin and tubulin folding;Post-chaperonin tubulin folding pathway (Consensus)

Recessive Scores

pRec
0.172

Intolerance Scores

loftool
0.527
rvis_EVS
0.38
rvis_percentile_EVS
75.58

Haploinsufficiency Scores

pHI
0.514
hipred
N
hipred_score
0.396
ghis
0.392

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
essential_gene_gene_trap
N
gene_indispensability_pred
E
gene_indispensability_score
0.539

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Tuba3b
Phenotype

Gene ontology

Biological process
microtubule cytoskeleton organization;mitotic cell cycle;microtubule-based process;biological_process
Cellular component
nucleus;cytoplasm;microtubule;microtubule cytoskeleton
Molecular function
molecular_function;GTPase activity;structural constituent of cytoskeleton;protein binding;GTP binding