CHFR checkpoint with forkhead and ring finger domains
Information
- Symbol
- CHFR
- Type
- protein-coding
- Description
- checkpoint with forkhead and ring finger domains
- Entrez Gene ID
- 55743
- Genome
- hg19
- Position
- chr12:133,417,561-133,464,194
- Genome
- hg38
- Position
- chr12:132,840,975-132,887,608
- MIM
- 605209 OMIM
- HGNC
- HGNC:20455 HGNC
- Ensembl
- ENSG00000072609 Ensembl
- Links
- NCBI Gene Cards OncoKB
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Likely pathogenic | 0 | 2 |
| Benign | 0 | 4 |
| Likely benign | 0 | 2 |
| Uncertain significance | 0 | 80 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
0 |
 |
88 |
 |
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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| 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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| Category | : |
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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
|
| 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 | RNF116 |
| SYNONYM | RNF196 |
| MIM | 605209 OMIM |
| HGNC | HGNC:20455 HGNC |
| Ensembl | ENSG00000072609 Ensembl |
| AllianceGenome | HGNC:20455 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000266880.11 | hg38 | chr12 | 132,832,357 | 132,887,598 | 55,242 |
| ENST00000450056.7 | hg38 | chr12 | 132,832,356 | 132,887,605 | 55,250 |
| ENST00000443047.6 | hg38 | chr12 | 132,840,352 | 132,887,603 | 47,252 |
| ENST00000432561.6 | hg38 | chr12 | 132,840,975 | 132,887,608 | 46,634 |
| ENST00000450056.7 | hg19 | chr12 | 133,408,942 | 133,464,191 | 55,250 |
| ENST00000266880.11 | hg19 | chr12 | 133,408,943 | 133,464,184 | 55,242 |
| ENST00000443047.6 | hg19 | chr12 | 133,416,938 | 133,464,189 | 47,252 |
| ENST00000432561.6 | hg19 | chr12 | 133,417,561 | 133,464,194 | 46,634 |
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