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:
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)