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RNF43
Basic information
- Official gene symbol
-
ring finger protein 43
- Conventional gene symbol
-
RNF124, SSPCS, URCC
- Classification
-
Tumor suppressor gene
- Official gene ID
- Transcript ID
- Functional classification
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Differentiation
- Signaling pathway
-
WNT
- Chromosomal location
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17q22 (chr17:56432304..56492938, complement)
- Protein length
-
783
Chromosome ideogram
Pathway map
Frequency of somatic alterationsTumor type
Base substitutions, insertions, and deletions
Copy number alterations
Distribution of tumor mutation burdenTMB
List of driver somatic mutations
| Genomic Coordinates (GRCh37/hg19) | Reference | Variant | Exon | Amino Acid change | Coding DNA change | COSMIC (v92) | Classification | No. of Samples |
|---|---|---|---|---|---|---|---|---|
| chr17:56492693 | TA | T | 2 / 10 | p.L82fs | c.245delT | Tier2 | 1 / 102 | |
| chr17:56492694 | A | C | 2 / 10 | p.L82* | c.245T>G | COSV60416856 | Tier2 | 1 / 102 |
| chr17:56448274 | T | TGCTA | 3 / 10 | p.K125fs | c.369_372dupTAGC | Tier2 | 1 / 102 | |
| chr17:56448310 | G | A | 3 / 10 | p.R113* | c.337C>T | COSV68457279 | Tier2 | 1 / 102 |
| chr17:56440904 | G | A | 4 / 10 | p.R145* | c.433C>T | COSV68456834 | Tier2 | 1 / 102 |
| chr17:56440919 | CAA | C | 4 / 10 | p.F139fs | c.416_417delTT | Tier2 | 1 / 102 | |
| chr17:56440943 | G | A | 4 / 10 | p.R132* | c.394C>T | COSV68457376 | Tier2 | 7 / 102 |
| chr17:56440676 | TTTTGGTTC | T | 5 / 10 | p.N179fs | c.534_541delGAACCAAA | Tier2 | 1 / 102 | |
| chr17:56440761 | G | A | 5 / 10 | p.Q153* | c.457C>T | COSV68459258 | Tier2 | 1 / 102 |
| chr17:56439992 | C | T | 6 / 10 | p.W200* | c.600G>A | COSV68457592 | Tier2 | 1 / 102 |
| chr17:56439993 | C | T | 6 / 10 | p.W200* | c.599G>A | COSV68459246 | Tier2 | 2 / 102 |
| chr17:56438216 | C | T | 7 / 10 | p.W259* | c.777G>A | COSV68457166 | Tier2 | 1 / 102 |
| chr17:56438269 | G | A | 7 / 10 | p.Q242* | c.724C>T | COSV68459333 | Tier2 | 1 / 102 |
| chr17:56438280 | C | T | 7 / 10 | p.W238* | c.713G>A | COSV104435047 | Tier2 | 1 / 102 |
| chr17:56438293 | G | A | 7 / 10 | p.Q234* | c.700C>T | Tier2 | 1 / 102 | |
| chr17:56438296 | G | A | 7 / 10 | p.Q233* | c.697C>T | COSV68459713 | Tier2 | 1 / 102 |
| chr17:56435536 | TCCAAGGAACGAGG | T | 9 / 10 | p.P530fs | c.1588_1600delCCTCGTTCCTTGG | Tier2 | 1 / 102 | |
| chr17:56435933 | G | A | 9 / 10 | p.Q402* | c.1204C>T | Tier2 | 1 / 102 | |
| chr17:56436128 | G | A | 9 / 10 | p.R337* | c.1009C>T | COSV68456791 | Tier2 | 1 / 102 |
| chr17:56436149 | G | A | 9 / 10 | p.R330* | c.988C>T | COSV68457287 | Tier2 | 2 / 102 |
