COL11A1 |
- 1
Haplo
Score - 0
Triplo
Score
Gene Facts External Data Attribution
- HGNC Symbol
- COL11A1 (HGNC:2186) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- collagen type XI alpha 1 chain
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- COLL6, DFNA37
- Alias symbols
- STL2, CO11A1
- %HI
- 8.57(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 1(Read more about gnomAD pLI score)
- LOEUF
- 0.22(Read more about gnomAD LOEUF score)
- Cytoband
- 1p21.1
- Genomic Coordinates
-
GRCh37/hg19: chr1:103342029-103574078 NCBI Ensembl UCSC GRCh38/hg38: chr1:102876473-103108522 NCBI Ensembl UCSC - MANE Select Transcript
- NM_001854.4 ENST00000370096.9 (Read more about MANE Select)
- Function
- May play an important role in fibrillogenesis by controlling lateral growth of collagen II fibrils. (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-19506
Curation Status:
Complete
Issue Type:
Dosage Curation -
Gene
Haploinsufficiency:
Little Evidence for Haploinsufficiency
(1)
Triplosensitivity:
No Evidence for Triplosensitivity
(0)
Last Evaluated:
10/19/2011
Haploinsufficiency (HI) Score Details
HI Score:
1
HI Evidence Strength:
Little Evidence for Haploinsufficiency
(Disclaimer)
HI Disease:
- Stickler syndrome type 2 Monarch
HI Evidence:
HI Evidence Comments:
Deletions that are associated with Stickler or other related collagenopathies are generally small and result in a dominant negative consequence to the collagen protein by disrupting the Gly-X-Y collagen sequence. Loss of function of a single copy of COL11A may only lead to early hearing loss and myopia from a single report.
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)