FHIT fragile histidine triad diadenosine triphosphatase
Information
- Symbol
- FHIT
- Type
- protein-coding
- Description
- fragile histidine triad diadenosine triphosphatase
- Entrez Gene ID
- 2272
- Genome
- hg19
- Position
- chr3:59,733,003-61,237,126
- Genome
- hg38
- Position
- chr3:59,747,277-61,251,452
- MIM
- 601153 OMIM
- HGNC
- HGNC:3701 HGNC
- Ensembl
- ENSG00000189283 Ensembl
- Links
- NCBI Gene Cards OncoKB
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Benign | 0 | 2 |
| Likely benign | 0 | 10 |
| association | 0 | 2 |
| not provided | 12 | 0 |
| Uncertain significance | 0 | 30 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
0 |
 |
44 |
 |
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
| 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 | AP3Aase |
| SYNONYM | FRA3B |
| MIM | 601153 OMIM |
| HGNC | HGNC:3701 HGNC |
| Ensembl | ENSG00000189283 Ensembl |
| AllianceGenome | HGNC:3701 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000476844.5 | hg38 | chr3 | 59,749,310 | 61,251,413 | 1,502,104 |
| ENST00000492590.6 | hg38 | chr3 | 59,747,277 | 61,251,452 | 1,504,176 |
| ENST00000468189.5 | hg38 | chr3 | 59,751,407 | 61,251,459 | 1,500,053 |
| ENST00000492590.6 | hg19 | chr3 | 59,733,003 | 61,237,126 | 1,504,124 |
| ENST00000476844.5 | hg19 | chr3 | 59,735,036 | 61,237,087 | 1,502,052 |
| ENST00000468189.5 | hg19 | chr3 | 59,737,133 | 61,237,133 | 1,500,001 |
| Key | Value |
|---|---|
| strand | - |
| UniProt | TSG |
| start | 59,733,003 |
| Gene Symbol | FHIT |
| Entrez GeneId | 2,272 |
| Chr Band | 3p14.2 |
| end | 61,237,134 |
| chr | chr3 |
| Name | fragile histidine triad gene |
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