TCHP trichoplein keratin filament binding
Information
- Symbol
- TCHP
- Type
- protein-coding
- Description
- trichoplein keratin filament binding
- Entrez Gene ID
- 84260
- Genome
- hg19
- Position
- chr12:110,338,323-110,355,868
- Genome
- hg38
- Position
- chr12:109,900,518-109,918,063
- MIM
- 612654 OMIM
- HGNC
- HGNC:28135 HGNC
- Ensembl
- ENSG00000139437 Ensembl
- Links
- NCBI Gene Cards OncoKB
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Uncertain significance | 0 | 62 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
0 |
 |
62 |
 |
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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| 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 | TpMs |
| MIM | 612654 OMIM |
| HGNC | HGNC:28135 HGNC |
| Ensembl | ENSG00000139437 Ensembl |
| AllianceGenome | HGNC:28135 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000405876.9 | hg38 | chr12 | 109,900,274 | 109,918,069 | 17,796 |
| ENST00000312777.9 | hg38 | chr12 | 109,900,518 | 109,918,063 | 17,546 |
| ENST00000405876.9 | hg19 | chr12 | 110,338,079 | 110,355,874 | 17,796 |
| ENST00000312777.9 | hg19 | chr12 | 110,338,323 | 110,355,868 | 17,546 |
| Key | Value |
|---|---|
| strand | + |
| UniProt | TSG |
| start | 110,338,078 |
| Gene Symbol | TCHP |
| Entrez GeneId | 84,260 |
| Chr Band | 12q24.11 |
| end | 110,355,873 |
| chr | chr12 |
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