SPINT4 serine peptidase inhibitor, Kunitz type 4
Information
- Symbol
- SPINT4
- Type
- protein-coding
- Description
- serine peptidase inhibitor, Kunitz type 4
- Entrez Gene ID
- 391253
- Genome
- hg19
- Position
- chr20:44,350,986-44,354,469
- Genome
- hg38
- Position
- chr20:45,722,347-45,725,830
- MIM
- 619430 OMIM
- HGNC
- HGNC:16130 HGNC
- Ensembl
- ENSG00000149651 Ensembl
- Links
- NCBI Gene Cards OncoKB
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Likely benign | 0 | 4 |
| not provided | 1 | 0 |
| Uncertain significance | 0 | 14 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
0 |
 |
18 |
 |
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
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 | |||||||||||
Search Word
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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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| Category | : |
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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 | C20orf137 |
| SYNONYM | SPINT3 |
| SYNONYM | dJ601O1.1 |
| MIM | 619430 OMIM |
| HGNC | HGNC:16130 HGNC |
| Ensembl | ENSG00000149651 Ensembl |
| AllianceGenome | HGNC:16130 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000279058.4 | hg38 | chr20 | 45,722,347 | 45,725,830 | 3,484 |
| ENST00000279058.4 | hg19 | chr20 | 44,350,986 | 44,354,469 | 3,484 |
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