COL4A5 |
- 3
Haplo
Score - 0
Triplo
Score
Gene Facts External Data Attribution
- HGNC Symbol
- COL4A5 (HGNC:2207) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- collagen type IV alpha 5 chain
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- ASLN, ATS
- Alias symbols
- No aliases found
- %HI
- 8.97(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 1(Read more about gnomAD pLI score)
- LOEUF
- 0.19(Read more about gnomAD LOEUF score)
- Cytoband
- Xq22.3
- Genomic Coordinates
-
GRCh37/hg19: chrX:107683068-107940775 NCBI Ensembl UCSC GRCh38/hg38: chrX:108439838-108697545 NCBI Ensembl UCSC - MANE Select Transcript
- NM_033380.3 ENST00000328300.11 (Read more about MANE Select)
- Function
- Type IV collagen is the major structural component of glomerular basement membranes (GBM), forming a 'chicken-wire' meshwork together with laminins, proteoglycans and entactin/nidogen. (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Haploinsufficiency (HI) Score Details
- Alport syndrome 1, X-linked Monarch
-
PUBMED:
16941480
King et al (2006) sequenced the COL4A5 gene in 25 unrelated patients with clear Alport syndrome and identified 21 mutations including 4 exon level deletions (del exons 2-37; del exons 31-36; del exons 35-36; del exons 46-51), 3 frameshifts (c.2510delG, c.2_3delTG, c.2846delC), 2 canonical splice site mutations (c.1780-1G>A, c.2244+2T>C). Therefore, a total of 9 LOF variants identified in 9 patients with Alport syndrome.
-
PUBMED:
10752524
Jais et al (2000) 401 male patients with Alport syndrome in 195 families with COL4A5 mutation were reported. Among those, 37 frameshift mutations, 14 nonsense mutations were identified.
-
PUBMED:
30577881
Zhang et al (2018) All 87 patients with Alport syndrome were tested for COL4A5/6 genotype, where 60 different COL4A5 pathogenic variants were identified in 63 patients, including 10 frameshifts, 5 nonsense (p.Arg373*, p.Lys1284*; p.Arg1680*, p.Ser36*, p.G1360*).
The loss-of-function and triplosensitivity ratings for genes on the X chromosome are made in the context of a male genome to account for the effects of hemizygous duplications or nullizygous deletions. In contrast, disruption of some genes on the X chromosome causes male lethality and the ratings of dosage sensitivity instead take into account the phenotype in female individuals. Factors that may affect the severity of phenotypes associated with X-linked disorders include the presence of variable copies of the X chromosome (i.e. 47,XXY or 45,X) and skewed X-inactivation in females.
Triplosensitivity (TS) Score Details
The loss-of-function and triplosensitivity ratings for genes on the X chromosome are made in the context of a male genome to account for the effects of hemizygous duplications or nullizygous deletions. In contrast, disruption of some genes on the X chromosome causes male lethality and the ratings of dosage sensitivity instead take into account the phenotype in female individuals. Factors that may affect the severity of phenotypes associated with X-linked disorders include the presence of variable copies of the X chromosome (i.e. 47,XXY or 45,X) and skewed X-inactivation in females.