TBCE |
- 30
Haplo
Score - 0
Triplo
Score
Gene Facts External Data Attribution
- HGNC Symbol
- TBCE (HGNC:11582) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- tubulin folding cofactor E
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- KCS, HRD
- Alias symbols
- KCS1, pac2
- %HI
- 28.98(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 0(Read more about gnomAD pLI score)
- LOEUF
- 0.87(Read more about gnomAD LOEUF score)
- Cytoband
- 1q42.3
- Genomic Coordinates
-
GRCh37/hg19: chr1:235530742-235615756 NCBI Ensembl UCSC GRCh38/hg38: chr1:235367427-235452443 NCBI Ensembl UCSC - MANE Select Transcript
- NM_003193.5 ENST00000642610.2 (Read more about MANE Select)
- Function
- Tubulin-folding protein; involved in the second step of the tubulin folding pathway and in the regulation of tubulin heterodimer dissociation. Required for correct organization of microtubule cytoskeleton and mitotic splindle, and maintenance of the neuronal microtubule network. {ECO:0000269|PubMed:11847227, ECO:0000269|PubMed:27666369}. (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-10133
ClinGen Curation ID:
CCID:007973
Curation Status:
Complete
Issue Type:
Dosage Curation -
Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype
(30)
Triplosensitivity:
No Evidence for Triplosensitivity
(0)
Last Evaluated:
05/17/2012
Haploinsufficiency (HI) Score Details
HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype
(Disclaimer)
HI Disease:
- hypoparathyroidism-retardation-dysmorphism syndrome Monarch
HI Evidence Comments:
Biallelic variants have been reported in individuals with encephalopathy, progressive, with amyotrophy and optic atrophy, Kenny-Caffey syndrome, type 1, and hypoparathyroidism-retardation-dysmorphism syndrome per OMIM.
Triplosensitivity (TS) Score Details
TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)
Genomic View
Select assembly:
(NC_000001.10)
(NC_000001.11)