KERA |
- 30
Haplo
Score - -5
Triplo
Score
Gene Facts External Data Attribution
- HGNC Symbol
- KERA (HGNC:6309) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- keratocan
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- CNA2
- Alias symbols
- SLRR2B
- %HI
- 28.54(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 0(Read more about gnomAD pLI score)
- LOEUF
- 1.29(Read more about gnomAD LOEUF score)
- Cytoband
- 12q21.33
- Genomic Coordinates
-
GRCh37/hg19: chr12:91444268-91451801 NCBI Ensembl UCSC GRCh38/hg38: chr12:91050491-91058024 NCBI Ensembl UCSC - MANE Select Transcript
- NM_007035.4 ENST00000266719.4 (Read more about MANE Select)
- Function
- May be important in developing and maintaining corneal transparency and for the structure of the stromal matrix. {ECO:0000305|PubMed:10802664, ECO:0000305|PubMed:11726611}. (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-1998
ClinGen Curation ID:
CCID:007363
Curation Status:
Complete
Issue Type:
Dosage Curation -
Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype
(30)
Triplosensitivity:
Not Yet Evaluated
Last Evaluated:
08/22/2016
Haploinsufficiency (HI) Score Details
HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype
(Disclaimer)
HI Disease:
- cornea plana 2 Monarch
Triplosensitivity (TS) Score Details
TS Evidence Strength:
Not Yet Evaluated (Disclaimer)
Genomic View
Select assembly:
(NC_000012.11)
(NC_000012.12)