TESPA1 thymocyte expressed, positive selection associated 1
Information
- Symbol
- TESPA1
- Type
- protein-coding
- Description
- thymocyte expressed, positive selection associated 1
- Entrez Gene ID
- 9840
- Genome
- hg19
- Position
- chr12:55,341,799-55,378,546
- Genome
- hg38
- Position
- chr12:54,948,015-54,984,762
- MIM
- 615664 OMIM
- HGNC
- HGNC:29109 HGNC
- Ensembl
- ENSG00000135426 Ensembl
- Links
- NCBI Gene Cards OncoKB
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Likely benign | 0 | 6 |
| Uncertain significance | 0 | 44 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
0 |
 |
50 |
 |
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 | |||||||||||
Search Word
| Target data | : |
MGeND data only
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| 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
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| Category | : |
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| 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 | HSPC257 |
| SYNONYM | ITPRID3 |
| SYNONYM | KIAA0748 |
| MIM | 615664 OMIM |
| HGNC | HGNC:29109 HGNC |
| Ensembl | ENSG00000135426 Ensembl |
| AllianceGenome | HGNC:29109 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000449076.6 | hg38 | chr12 | 54,948,015 | 54,984,762 | 36,748 |
| ENST00000531122.5 | hg38 | chr12 | 54,950,354 | 54,973,686 | 23,333 |
| ENST00000316577.12 | hg38 | chr12 | 54,950,170 | 54,981,838 | 31,669 |
| ENST00000524622.5 | hg38 | chr12 | 54,948,018 | 54,973,930 | 25,913 |
| ENST00000532804.5 | hg38 | chr12 | 54,950,080 | 54,973,683 | 23,604 |
| ENST00000449076.6 | hg19 | chr12 | 55,341,799 | 55,378,546 | 36,748 |
| ENST00000524622.5 | hg19 | chr12 | 55,341,802 | 55,367,714 | 25,913 |
| ENST00000532804.5 | hg19 | chr12 | 55,343,864 | 55,367,467 | 23,604 |
| ENST00000316577.12 | hg19 | chr12 | 55,343,954 | 55,375,622 | 31,669 |
| ENST00000531122.5 | hg19 | chr12 | 55,344,138 | 55,367,470 | 23,333 |
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