ASNS asparagine synthetase (glutamine-hydrolyzing)
Information
- Symbol
- ASNS
- Type
- protein-coding
- Description
- asparagine synthetase (glutamine-hydrolyzing)
- Entrez Gene ID
- 440
- Genome
- hg19
- Position
- chr7:97,480,989-97,501,720
- Genome
- hg38
- Position
- chr7:97,851,677-97,872,408
- MIM
- 108370 OMIM
- HGNC
- HGNC:753 HGNC
- Ensembl
- ENSG00000070669 Ensembl
- Links
- NCBI Gene Cards OncoKB
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Pathogenic | 8 | 170 |
| Likely pathogenic | 0 | 108 |
| Benign | 0 | 72 |
| Likely benign | 0 | 700 |
| Conflicting classifications of pathogenicity | 0 | 38 |
| Uncertain significance | 0 | 370 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
164 |
 |
1,182 |
 |
24 |
Frequency
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
Disease area statistics
Locus Zoom
Variants
Search Word
| Target data | : |
MGeND data only
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| Category | : |
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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 | |||||||||||
Search Word
| Target data | : |
MGeND data only
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| 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 | ASNSD |
| SYNONYM | TS11 |
| MIM | 108370 OMIM |
| HGNC | HGNC:753 HGNC |
| Ensembl | ENSG00000070669 Ensembl |
| AllianceGenome | HGNC:753 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000455086.5 | hg38 | chr7 | 97,852,152 | 97,872,394 | 20,243 |
| ENST00000444334.5 | hg38 | chr7 | 97,852,204 | 97,872,436 | 20,233 |
| ENST00000394308.8 | hg38 | chr7 | 97,851,677 | 97,872,408 | 20,732 |
| ENST00000394309.7 | hg38 | chr7 | 97,852,128 | 97,872,131 | 20,004 |
| ENST00000437628.5 | hg38 | chr7 | 97,852,131 | 97,872,113 | 19,983 |
| ENST00000422745.5 | hg38 | chr7 | 97,852,146 | 97,872,467 | 20,322 |
| ENST00000175506.8 | hg38 | chr7 | 97,852,118 | 97,872,542 | 20,425 |
| ENST00000175506.8 | hg19 | chr7 | 97,481,430 | 97,501,854 | 20,425 |
| ENST00000394308.8 | hg19 | chr7 | 97,480,989 | 97,501,720 | 20,732 |
| ENST00000394309.7 | hg19 | chr7 | 97,481,440 | 97,501,443 | 20,004 |
| ENST00000422745.5 | hg19 | chr7 | 97,481,458 | 97,501,779 | 20,322 |
| ENST00000437628.5 | hg19 | chr7 | 97,481,443 | 97,501,425 | 19,983 |
| ENST00000444334.5 | hg19 | chr7 | 97,481,516 | 97,501,748 | 20,233 |
| ENST00000455086.5 | hg19 | chr7 | 97,481,464 | 97,501,706 | 20,243 |
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