CEP43 centrosomal protein 43
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Benign | 0 | 2 |
| Uncertain significance | 0 | 60 |
Ranking
| ClinVar | |
|---|---|
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0 |
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0 |
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0 |
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62 |
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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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| 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 | FGFR1OP |
| SYNONYM | FOP |
| MIM | 605392 OMIM |
| HGNC | HGNC:17012 HGNC |
| Ensembl | ENSG00000213066 Ensembl |
| AllianceGenome | HGNC:17012 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000366847.9 | hg38 | chr6 | 166,999,397 | 167,052,718 | 53,322 |
| ENST00000705168.1 | hg38 | chr6 | 167,020,790 | 167,040,578 | 19,789 |
| ENST00000705170.1 | hg38 | chr6 | 167,021,272 | 167,040,317 | 19,046 |
| ENST00000349556.5 | hg38 | chr6 | 166,999,174 | 167,042,405 | 43,232 |
| ENST00000705242.1 | hg38 | chr6 | 166,999,402 | 167,042,405 | 43,004 |
| ENST00000704900.1 | hg38 | chr6 | 166,999,337 | 167,039,978 | 40,642 |
| ENST00000705178.1 | hg38 | chr6 | 166,999,308 | 167,042,405 | 43,098 |
| ENST00000705179.1 | hg38 | chr6 | 166,999,402 | 167,042,405 | 43,004 |
| ENST00000705172.1 | hg38 | chr6 | 166,999,397 | 167,014,616 | 15,220 |
| ENST00000705176.1 | hg38 | chr6 | 166,999,402 | 167,042,405 | 43,004 |
| ENST00000622353.4 | hg38 | chr6 | 166,999,317 | 167,042,418 | 43,102 |
| ENST00000705175.1 | hg38 | chr6 | 166,999,402 | 167,042,405 | 43,004 |
| ENST00000705239.1 | hg38 | chr6 | 166,999,397 | 167,042,401 | 43,005 |
| ENST00000705180.1 | hg38 | chr6 | 166,999,209 | 167,042,405 | 43,197 |
| ENST00000705236.1 | hg38 | chr6 | 166,999,363 | 167,042,406 | 43,044 |
| ENST00000705235.1 | hg38 | chr6 | 166,999,353 | 167,042,406 | 43,054 |
| ENST00000705238.1 | hg38 | chr6 | 166,999,384 | 167,042,405 | 43,022 |
| ENST00000705237.1 | hg38 | chr6 | 166,999,379 | 167,042,406 | 43,028 |
| ENST00000705058.1 | hg38 | chr6 | 166,999,402 | 167,014,739 | 15,338 |
| ENST00000349556.5 | hg19 | chr6 | 167,412,662 | 167,455,893 | 43,232 |
| ENST00000366847.9 | hg19 | chr6 | 167,412,885 | 167,466,206 | 53,322 |
| ENST00000705180.1 | hg19 | chr6 | 167,412,697 | 167,455,893 | 43,197 |
| ENST00000704900.1 | hg19 | chr6 | 167,412,825 | 167,453,466 | 40,642 |
| ENST00000622353.4 | hg19 | chr6 | 167,412,805 | 167,455,906 | 43,102 |
| ENST00000705058.1 | hg19 | chr6 | 167,412,890 | 167,428,227 | 15,338 |
| ENST00000705168.1 | hg19 | chr6 | 167,434,278 | 167,454,066 | 19,789 |
| ENST00000705172.1 | hg19 | chr6 | 167,412,885 | 167,428,104 | 15,220 |
| ENST00000705170.1 | hg19 | chr6 | 167,434,760 | 167,453,805 | 19,046 |
| ENST00000705175.1 | hg19 | chr6 | 167,412,890 | 167,455,893 | 43,004 |
| ENST00000705178.1 | hg19 | chr6 | 167,412,796 | 167,455,893 | 43,098 |
| ENST00000705242.1 | hg19 | chr6 | 167,412,890 | 167,455,893 | 43,004 |
| ENST00000705179.1 | hg19 | chr6 | 167,412,890 | 167,455,893 | 43,004 |
| ENST00000705176.1 | hg19 | chr6 | 167,412,890 | 167,455,893 | 43,004 |
| ENST00000705235.1 | hg19 | chr6 | 167,412,841 | 167,455,894 | 43,054 |
| ENST00000705236.1 | hg19 | chr6 | 167,412,851 | 167,455,894 | 43,044 |
| ENST00000705237.1 | hg19 | chr6 | 167,412,867 | 167,455,894 | 43,028 |
| ENST00000705238.1 | hg19 | chr6 | 167,412,872 | 167,455,893 | 43,022 |
| ENST00000705239.1 | hg19 | chr6 | 167,412,885 | 167,455,889 | 43,005 |
| Key | Value |
|---|---|
| strand | + |
| start | 167,412,804 |
| Gene Symbol | FGFR1OP |
| Entrez GeneId | 11,116 |
| Chr Band | 6q27 |
| end | 167,455,905 |
| chr | chr6 |
| Name | FGFR1 oncogene partner (FOP) |
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