| Variant ID | 14705 |
|---|---|
| Entrez Gene ID | 60495 |
| Gene | HPSE2 (GeneCards) |
| Location | hg19 10:100752520-100752520
hg38 10:98992763-98992763 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000010.10:g.100752520 C>T (Genome Assembly: GRCh37) |
| Exon or Intron | NA |
|---|---|
| Position in protein | NA |
| Amino acid changes in protein | NA > NA |
| Position in cDNA | NA |
| Changes in cDNA | NA > NA |
| mRNA accession | NA |
| mRNA length | NA |
| Reference length | 135534747 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.0445 |
| CADD Raw score (version 1.3) | -0.120608 (Deleterious) |
| FATHMM raw prediction score | 0.15313 (Tolerated) |
| Deleterious probability by DeFine | 0.347 (Neutral) |
| Entrez Gene ID | 60495 (NCBI Gene) |
|---|---|
| Official Gene Symbol | HPSE2 (GeneCards) |
| Number of variants in HPSE2 in this database | 15 (view all the variants) |
| Full name | heparanase 2 (inactive) |
| Band | 10q24.2 |
| Other IDs | Vega: OTTHUMG00000018880 OMIM: 613469 HGNC: HGNC:18374 Ensembl: ENSG00000172987 |
| Other names | UFS, HPA2, HPR2, UFS1 |
| Summary | This gene encodes a heparanase enzyme. The encoded protein is a endoglycosidase that degrades heparin sulfate proteoglycans located on the extracellular matrix and cell surface. This protein may be involved in biological processes involving remodeling of the extracellular matrix including angiogenesis and tumor progression. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009] |
| Individual ID | 29217584.16 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Female Patient |
| Phenotype | 3 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| OMIM ID | 216400 |
| Pubmed ID | 29217584 |
|---|---|
| Title | Aging and neurodegeneration are associated with increased mutations in single human neurons. |
| Journal | Science |
| Publication date | 2018.02 |
| Disease | Cockayne syndrome Xeroderma Pigmentosum |
| Number of cases | Male cases: 3; Female cases: 6; cases of unknown sex: 15; |