HPSE heparanase
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Benign | 0 | 10 |
Likely benign | 0 | 18 |
Uncertain significance | 0 | 60 |
Ranking
ClinVar | |
---|---|
![]() |
0 |
![]() |
0 |
![]() |
0 |
![]() |
88 |
![]() |
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
|
Category | : |
|
Search word | : | |
Filtering | : |
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 |
Search Word
Target data | : |
MGeND data only
|
Category | : |
|
Search word | : | |
Filtering | : |
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
|
Category | : |
|
Search word | : | |
Filtering | : |
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 |
Genome browser