TECPR2 |
- 30
Haplo
Score - 0
Triplo
Score
Gene Facts External Data Attribution
- HGNC Symbol
- TECPR2 (HGNC:19957) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- tectonin beta-propeller repeat containing 2
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- KIAA0329
- Alias symbols
- No aliases found
- %HI
- 73.01(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 0.58(Read more about gnomAD pLI score)
- LOEUF
- 0.35(Read more about gnomAD LOEUF score)
- Cytoband
- 14q32.33
- Genomic Coordinates
-
GRCh37/hg19: chr14:102829278-102968814 NCBI Ensembl UCSC GRCh38/hg38: chr14:102362941-102502477 NCBI Ensembl UCSC - MANE Select Transcript
- NM_014844.5 ENST00000359520.12 (Read more about MANE Select)
- Function
- Probably plays a role as positive regulator of autophagy. {ECO:0000269|PubMed:23176824}. (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-16279
Curation Status:
Complete
Issue Type:
Dosage Curation -
Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype
(30)
Triplosensitivity:
No Evidence for Triplosensitivity
(0)
Last Evaluated:
08/22/2016
Haploinsufficiency (HI) Score Details
HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype
(Disclaimer)
HI Disease:
- hereditary spastic paraplegia 49 Monarch
Triplosensitivity (TS) Score Details
TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)
Genomic View
Select assembly:
(NC_000014.8)
(NC_000014.9)