• 0
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
TUBA1A (HGNC:20766) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
tubulin alpha 1a
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
No previous names found
Alias symbols
TUBA3, B-ALPHA-1, FLJ25113
%HI
4.83(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0.97(Read more about gnomAD pLI score)
LOEUF
0.32(Read more about gnomAD LOEUF score)
Cytoband
12q13.12
Genomic Coordinates
GRCh37/hg19: chr12:49578578-49582863 NCBI Ensembl UCSC
GRCh38/hg38: chr12:49184795-49189080 NCBI Ensembl UCSC
MANE Select Transcript
NM_006009.4 ENST00000301071.12 (Read more about MANE Select)
Function
Tubulin is the major constituent of microtubules, a cylinder consisting of laterally associated linear protofilaments composed of alpha- and beta-tubulin heterodimers. Microtubules grow by the addition of GTP-tubulin dimers to the microtubule end, where a stabilizing cap forms. Below the cap, tubulin dimers are in GDP-bound state, owing to GTPase activity of alpha-tubulin. (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-36959
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
No Evidence for Haploinsufficiency (0)
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Last Evaluated:
04/14/2016

Haploinsufficiency (HI) Score Details

HI Score:
0
HI Evidence Strength:
No Evidence for Haploinsufficiency (Disclaimer)
HI Evidence Comments:
PMID: 23033978: 100 patients with intellectual disability were analyzed by WES. In the series, a child with moderate ID, microcephaly, hypoplastic corpus callosum and vermis cerebelli, delayed myelination was found to have a de novo, frameshift mutation in TUBA1A. However, contrary to this, a previous large study of lissencephaly and lissencephaly/cerebellar hypoplasia patients found only de novo missense mutations (PMID: 20466733). As well, the authors reported that no TUBA1A deletions were detected in an ID population of ~15,000 patients (Signature Genomics data). The authors argued against haploinsufficiency for these reasons and suggested that the main mechanism of pathogenicity for this gene is likely a dominant negative effect, possibly disrupting tubulin-MAP interactions. However, the authors did not rule out the possibility that null mutations could be embryonic lethal.

Triplosensitivity (TS) Score Details

TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)

Genomic View

Select assembly: (NC_000012.11) (NC_000012.12)