HPSE heparanase
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Benign | 0 | 10 |
| Likely benign | 0 | 18 |
| Uncertain significance | 0 | 60 |
Ranking
| ClinVar | |
|---|---|
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0 |
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0 |
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0 |
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88 |
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0 |
Frequency
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
Disease area statistics
[No Data.]
Locus Zoom
Variants
Search Word
| Target data | : |
MGeND data only
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| Variant name | Gene | AA change | CDS | Japanese frequency |
TogoVar | MGeND | Genome | ClinVar | CIViC evidence | DisGeNET entry | COSMIC occurrence |
Prediction | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Entry | Origin | Type | Annotation | Entry | Origin | Annotation | |||||||||||
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MGeND data only
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| Name | MGeND | Type | Genome | Size | Chromosome | Start | Stop | Ref | Alt | ClinVar | Origin | Entry | CIViC evidence | DisGeNET entry | |||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Entry | Origin | Type | Annotation | ||||||||||||||
Search Word
| Target data | : |
MGeND data only
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| Name | MGeND | Type | Genome | Gene symbol | Chromosome | Genomic start | Genomic stop | Strand | Ref | Alt | ClinVar | Origin | Entry | CIViC evidence | DisGeNET entry | |||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Entry | Origin | Type | Annotation | |||||||||||||||
| Type | ID |
|---|---|
| SYNONYM | HPA |
| SYNONYM | HPA1 |
| SYNONYM | HPR1 |
| SYNONYM | HPSE1 |
| SYNONYM | HSE1 |
| MIM | 604724 OMIM |
| HGNC | HGNC:5164 HGNC |
| Ensembl | ENSG00000173083 Ensembl |
| AllianceGenome | HGNC:5164 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000512196.5 | hg38 | chr4 | 83,295,320 | 83,335,153 | 39,834 |
| ENST00000513463.1 | hg38 | chr4 | 83,295,344 | 83,334,782 | 39,439 |
| ENST00000405413.6 | hg38 | chr4 | 83,292,461 | 83,335,153 | 42,693 |
| ENST00000311412.10 | hg38 | chr4 | 83,292,461 | 83,334,848 | 42,388 |
| ENST00000681769.1 | hg38 | chr4 | 83,292,524 | 83,334,782 | 42,259 |
| ENST00000311412.10 | hg19 | chr4 | 84,213,614 | 84,256,001 | 42,388 |
| ENST00000405413.6 | hg19 | chr4 | 84,213,614 | 84,256,306 | 42,693 |
| ENST00000681769.1 | hg19 | chr4 | 84,213,677 | 84,255,935 | 42,259 |
| ENST00000512196.5 | hg19 | chr4 | 84,216,473 | 84,256,306 | 39,834 |
| ENST00000513463.1 | hg19 | chr4 | 84,216,497 | 84,255,935 | 39,439 |
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