Variant Annotations¶
Cases are processed via the bioinformatics pipeline and annotations are added by Cellbase. Once a case arrives to the DSS, additional annotations are added from resources that are currently unavailable in Cellbase.
| Annotation | Description | Source |
|---|---|---|
| COSMIC | Somatic Database | Cellbase |
| gnomAD (exomes) | Population Germline Allele Frequency Database | Cellbase |
| Ensembl | Transcript and Protein ID annotations | Cellbase |
| ClinVar | Germline Database | Cellbase |
| NGTD | NHS resource | DSS |
| PanelApp | GEL resource | DSS |
| SV Frequencies | GEL database | DSS |
| CGC annotations | Somatic Database | DSS |
| Cancer Hotspots | Somatic Database | DSS |
COSMIC¶
The Catalogue of Somatic Mutations in Cancer is a somatic database that is used to record the impact of somatic mutations in human cancer.
- Cellbase annotates whether a variant is present in COSMIC.
- The DSS displays the COSMIC ID, sample numbers, tissue distribution information and a link to the record in COSMIC.
- The database version of COSMIC used by Cellbase is displayed in the DSS and may not always be the most recent. Please see the latest version of the Camcer Genome Analysis guide and Cellbase for further details.
GnomAD¶
The Genome Aggregation Database (gnomAD) is a population frequency database of large-scale sequencing projects from healthy cohorts.
- Cellbase annotates whether a variant is present in the gnomAD exomes dataset.
- The DSS displays the total population germline allele frequency as well as the subpopulations.
- The database version of gnomAD used by Cellbase is displayed in the DSS and may not always be the most recent. Please see the latest version of the Camcer Genome Analysis guide and Cellbase for further details.
Ensembl¶
Ensembl is a genome browser that provides gene annotations.
- Cellbase annotates each variant with a transcript and protein ID from Ensembl.
- The DSS displays these annotations in the variant list and variant details page.
- The database version of Ensembl used by Cellbase may not always be the most recent. Please see the latest version of the Camcer Genome Analysis guide and Cellbase for further details.
ClinVar¶
ClinVar is a public database of variant and phenotype relationships alongside supporting evidence and clinical interpretation histories.
- Cellbase annotates whether a variant is present in Clinvar.
- The DSS displays the ClinVar ID, interpretation, review status and number of entries alongside a link to the ClinVar record in the variant list and variant details page for germline variants.
- The database version of ClinVar used by Cellbase is displayed in the DSS and may not always be the most recent. Please see the latest version of the Camcer Genome Analysis guide and Cellbase for further details.
National Genomic Test Directory¶
The NGTD for cancer specifies which genomic tests are commissioned by the NHS in England, the technology by which they are available, and the patients who will be eligible to access to a test.
- If the affected gene for a variant is present in the NGTD, the variant is annotated with a clinical indication code e.g., M1, clinical indication name e.g., Colorectal Carcinoma and clinical indication group name e.g., Solid tumours.
PanelApp¶
The GeL PanelApp knowledgebase allows virtual gene panels related to human disorders to be created, stored and queried and is used as the platform for achieving consensus on gene panels in the NHS Genomic Medicine Service (GMS).
- The Ensembl gene ID of each variant is used to match the variant to Panels in PanelApp.
- The Panels in which the affected gene is present are then shown on the variant list and variant details page.
Structural Variant Frequencies¶
Population germline allele frequency for the breakpoints of a given structural variant based on two internal panels of normals: 1) GESG germline variants from single germline analysis of ~ 2,200 samples and 2) GECG variants detected as germline in paired tumour-normal variant calling for ~ 2,500 cancer samples.
- If an SV is found to overlap with any SVs identified in the internal panels of normals, the population frequency will be annotated to the variant and displayed on the variant list and variant details page.
Cancer Gene Census annotations¶
The Cancer Gene Census comprises a catalogue of genes which contain variants that have been causally implicated in cancer. In the Cancer DSS, we use the CGC database to annotate whether a gene is an oncogene, a tumour suppressor gene or both i.e., the role of the gene is ambiguous. For further information see Nature Reviews.
- The affected gene of each variant is compared against the CGC data.
- If a match is found, the annotation is attached to the affected gene and displayed in the DSS.
Cancer Hotspots¶
The Cancer Hotspots Database consists of single residue and in-frame indel mutation hotspots identified in 24,592 tumor samples by the algorithm described in Chang et al. 2017 and Chang et al. 2016.
- If the variant is located in a hotspot identified by Cancer Hotspots, the cancer hotspots icon will show in the variant list. If the variant is not found in a hotspot, "Not Found" will be displayed.
We currently match hotspots using the ensembl protein ID. Cancerhotspots.org have used Ensembl v75, while our pipeline is currently using Ensembl v90 and will be moving to MANE select once the bioinformatics pipeline updates to Cellbase v5. Please see below for a comparison between all protein IDs.
Proteins
| HGNC Symbol | Ensembl 75 | Ensembl 90 | MANE | Notes |
|---|---|---|---|---|
| ACVR1 | ENSP00000263640 | ENSP00000263640 | ENSP00000405004.1 | |
| AKT1 | ENSP00000270202 | ENSP00000450688 | ENSP00000497822.1 | |
| AKT3 | ENSP00000263826 | ENSP00000336943 | ENSP00000500582.1 | |
| ALK | ENSP00000373700 | ENSP00000373700 | ENSP00000373700.3 | |
| ANKRD11 | ENSP00000301030 | ENSP00000367581 | ENSP00000301030.4 | |
| APC | ENSP00000257430 | ENSP00000257430 | ENSP00000257430.4 | |
| AR | ENSP00000363822 | ENSP00000363822 | ENSP00000363822.3 | |
| ARAF | ENSP00000366244 | ENSP00000366244 | ENSP00000366244.4 | |
| ARID1A | ENSP00000320485 | ENSP00000320485 | ENSP00000320485.7 | |
| ARID1B | ENSP00000344546 | ENSP00000344546 | ENSP00000490491.2 | |
| ARID2 | ENSP00000335044 | ENSP00000335044 | ENSP00000335044.6 | |
| ASXL2 | ENSP00000391447 | ENSP00000391447 | ENSP00000391447.3 | |
| ATM | ENSP00000278616 | ENSP00000278616 | ENSP00000501606.1 | |
| ATRX | ENSP00000362441 | ENSP00000362441 | ENSP00000362441.4 | |
| AXIN1 | ENSP00000262320 | ENSP00000262320 | ENSP00000262320.3 | |
| AXL | ENSP00000301178 | ENSP00000301178 | ENSP00000301178.3 | |
| B2M | ENSP00000452780 | ENSP00000452780 | ENSP00000497910.1 | |
| BCL10 | ENSP00000359612 | ENSP00000359612 | ENSP00000498104.1 | |
| BCL2 | ENSP00000329623 | ENSP00000381185 | ENSP00000329623.3 | |
| BCL2L11 | ENSP00000376943 | ENSP00000482175 | ENSP00000376943.2 | |
| BCL6 | ENSP00000232014 | ENSP00000384371 | ENSP00000384371.2 | |
| BCOR | ENSP00000367705 | ENSP00000367705 | ENSP00000367705.4 | |
| BRAF | ENSP00000288602 | ENSP00000288602 | ENSP00000496776.1 | |
| BRCA2 | ENSP00000369497 | ENSP00000439902 | ENSP00000369497.3 | |
| BRD4 | ENSP00000263377 | ENSP00000263377 | ENSP00000506350.1 | |
| CARD11 | ENSP00000380150 | ENSP00000380150 | ENSP00000380150.4 | |
| CASP8 | ENSP00000351273 | ENSP00000264275 | ENSP00000501268.1 | |
| CBFB | ENSP00000415151 | ENSP00000415151 | ENSP00000415151.2 | |
| CBL | ENSP00000264033 | ENSP00000264033 | ENSP00000264033.3 | |
| CCND1 | ENSP00000227507 | ENSP00000227507 | ENSP00000227507.2 | |
| CCND3 | ENSP00000362082 | ENSP00000362082 | ENSP00000362082.5 | |
| CD79B | ENSP00000376544 | ENSP00000376544 | ENSP00000006750.4 | |
| CDH1 | ENSP00000261769 | ENSP00000261769 | ENSP00000261769.4 | |
| CDK12 | ENSP00000398880 | ENSP00000398880 | ENSP00000398880.4 | |
| CDK4 | ENSP00000257904 | ENSP00000257904 | ENSP00000257904.5 | |
| CDK6 | ENSP00000265734 | ENSP00000265734 | ENSP00000397087.3 | |
| CDKN1A | ENSP00000244741 | ENSP00000409259 | ENSP00000244741.6 | |
| CDKN1B | ENSP00000228872 | ENSP00000228872 | ENSP00000228872.4 | |
| CDKN2A | ENSP00000307101 | ENSP00000307101 | ENSP00000307101.5 | |
| CHEK2 | ENSP00000329178 | ENSP00000329178 | ENSP00000385747.1 | |
| CIC | ENSP00000458663 | ENSP00000458663 | ENSP00000505728.1 | |
| CREBBP | ENSP00000262367 | ENSP00000262367 | ENSP00000262367.5 | |
| CRLF2 | ENSP00000370978 | ENSP00000383641 | ENSP00000383641.3 | |
| CTCF | ENSP00000264010 | ENSP00000264010 | ENSP00000264010.4 | |
| CTLA4 | ENSP00000303939 | ENSP00000303939 | ENSP00000497102.1 | |
| CTNNB1 | ENSP00000344456 | ENSP00000344456 | ENSP00000344456.5 | |
| CUL3 | ENSP00000264414 | ENSP00000264414 | ENSP00000264414.4 | |
| CYSLTR2 | ENSP00000282018 | ENSP00000282018 | ENSP00000508181.1 | |
| DICER1 | ENSP00000343745 | ENSP00000343745 | ENSP00000343745.3 | |
| DIS3 | ENSP00000366997 | ENSP00000366997 | ENSP00000366997.4 | |
| DNAJB1 | ENSP00000254322 | ENSP00000254322 | ENSP00000254322.1 | |
| DNMT1 | ENSP00000345739 | ENSP00000352516 | ENSP00000352516.3 | |
| DNMT3A | ENSP00000264709 | ENSP00000324375 | ENSP00000324375.5 | |
| DNMT3B | ENSP00000328547 | ENSP00000328547 | ENSP00000328547.2 | |
| EGFR | ENSP00000275493 | ENSP00000275493 | ENSP00000275493.2 | |
| EIF1AX | ENSP00000368927 | ENSP00000368927 | ENSP00000368927.5 | |
| EIF4A2 | ENSP00000326381 | ENSP00000326381 | ENSP00000326381.5 | |
| EP300 | ENSP00000263253 | ENSP00000263253 | ENSP00000263253.7 | |
| EPAS1 | ENSP00000263734 | ENSP00000263734 | ENSP00000263734.3 | |
| EPHA3 | ENSP00000337451 | ENSP00000337451 | ENSP00000337451.2 | |
| EPHA7 | ENSP00000358309 | ENSP00000358309 | ENSP00000358309.4 | |
| EPHB1 | ENSP00000381097 | ENSP00000381097 | ENSP00000381097.3 | |
| ERBB2 | ENSP00000269571 | ENSP00000269571 | ENSP00000269571.4 | |
| ERBB3 | ENSP00000267101 | ENSP00000267101 | ENSP00000267101.4 | |
| ERBB4 | ENSP00000342235 | ENSP00000342235 | ENSP00000342235.4 | |
| ERCC2 | ENSP00000375809 | ENSP00000375809 | ENSP00000375809.4 | |
| ERCC3 | ENSP00000285398 | ENSP00000285398 | ENSP00000285398.2 | |
| ERG | ENSP00000288319 | ENSP00000414150 | ENSP00000288319.7 | |
| ERRFI1 | ENSP00000366702 | ENSP00000366702 | ENSP00000366702.5 | |
| ESR1 | ENSP00000206249 | ENSP00000206249 | ENSP00000206249.3 | |
| ETV6 | ENSP00000379658 | ENSP00000379658 | ENSP00000379658.3 | |
| EZH2 | ENSP00000320147 | ENSP00000320147 | ENSP00000320147.2 | |
| FAM58A | ENSP00000384396 | ENSP00000461135 | ENSP00000461135.1 | CCNQ in MANE |
| FAT1 | ENSP00000406229 | ENSP00000406229 | ENSP00000406229.2 | |
| FBXW7 | ENSP00000281708 | ENSP00000281708 | ENSP00000281708.3 | |
| FGFR1 | ENSP00000393312 | ENSP00000400162 | ENSP00000400162.2 | |
| FGFR2 | ENSP00000351276 | ENSP00000410294 | ENSP00000351276.6 | |
| FGFR3 | ENSP00000260795 | ENSP00000414914 | ENSP00000414914.2 | |
| FGFR4 | ENSP00000292408 | ENSP00000292408 | ENSP00000292408.4 | |
| FH | ENSP00000355518 | ENSP00000355518 | ENSP00000355518.4 | |
| FLT3 | ENSP00000241453 | ENSP00000241453 | ENSP00000241453.7 | |
| FOXA1 | ENSP00000250448 | ENSP00000250448 | ENSP00000250448.3 | |
| FOXL2 | ENSP00000333188 | ENSP00000333188 | ENSP00000497217.1 | |
| FOXO1 | ENSP00000368880 | ENSP00000368880 | ENSP00000368880.4 | |
| FOXP1 | ENSP00000318902 | ENSP00000318902 | ENSP00000497369.1 | |
| FUBP1 | ENSP00000359804 | ENSP00000359804 | ENSP00000359804.2 | |
| GATA2 | ENSP00000345681 | ENSP00000345681 | ENSP00000345681.2 | |
| GATA3 | ENSP00000341619 | ENSP00000368632 | ENSP00000368632.3 | |
| GLI1 | ENSP00000228682 | ENSP00000228682 | ENSP00000228682.2 | |
| GNA11 | ENSP00000078429 | ENSP00000078429 | ENSP00000078429.3 | |
| GNAQ | ENSP00000286548 | ENSP00000286548 | ENSP00000286548.4 | |
| GNAS | ENSP00000360126 | ENSP00000346328 | ENSP00000360115.3 | |
| GPS2 | ENSP00000370104 | ENSP00000379841 | ENSP00000370104.2 | |
| GSK3B | ENSP00000324806 | ENSP00000324806 | ENSP00000264235.9 | |
| GTF2I | ENSP00000322542 | ENSP00000460070 | ENSP00000460070.1 | |
| H3F3A | ENSP00000355778 | ENSP00000355780 | ENSP00000355780 | |
| HGF | ENSP00000222390 | ENSP00000222390 | ENSP00000222390.5 | |
| HIST1H1C | ENSP00000339566 | ENSP00000339566 | ENSP00000339566.3 | H1-2 in MANE |
| HIST1H3B | ENSP00000244661 | ENSP00000484841 | ENSP00000484841.2 | H3-C2 in MANE |
| HIST1H3C | ENSP00000439493 | ENSP00000484658 | ENSP00000484658.2 | H3-C3 in MANE |
| HIST1H3H | ENSP00000358160 | ENSP00000358160 | ENSP00000509120.1 | H3C10 in MANE |
| HLA-A | ENSP00000366005 | ENSP00000366002 | ENSP00000366005.5 | |
| HLA-B | ENSP00000399168 | ENSP00000399168 | ENSP00000399168.2 | |
| HNF1A | ENSP00000257555 | ENSP00000257555 | ENSP00000257555.5 | |
| HRAS | ENSP00000309845 | ENSP00000407586 | ENSP00000309845.7 | |
| IDH1 | ENSP00000260985 | ENSP00000260985 | ENSP00000260985.2 | |
| IDH2 | ENSP00000331897 | ENSP00000331897 | ENSP00000331897.4 | |
| IGF1R | ENSP00000268035 | ENSP00000268035 | ENSP00000497069.1 | |
| IKZF1 | ENSP00000331614 | ENSP00000331614 | ENSP00000331614.3 | |
| IL7R | ENSP00000306157 | ENSP00000306157 | ENSP00000306157.3 | |
| INPPL1 | ENSP00000298229 | ENSP00000298229 | ENSP00000298229.2 | |
| IRF4 | ENSP00000370343 | ENSP00000370343 | ENSP00000370343.4 | |
| IRS2 | ENSP00000365016 | ENSP00000365016 | ENSP00000365016.3 | |
| JAK1 | ENSP00000343204 | ENSP00000343204 | ENSP00000343204.4 | |
| JUN | ENSP00000360266 | ENSP00000360266 | ENSP00000360266.2 | |
| KDM6A | ENSP00000367203 | ENSP00000367203 | ENSP00000483595.2 | |
| KDR | ENSP00000263923 | ENSP00000263923 | ENSP00000263923.4 | |
| KEAP1 | ENSP00000171111 | ENSP00000377245 | ENSP00000171111.4 | |
| KIT | ENSP00000288135 | ENSP00000288135 | ENSP00000288135.6 | |
| KLF4 | ENSP00000363804 | ENSP00000363804 | ENSP00000363804.4 | |
| KMT2A | ENSP00000436786 | ENSP00000436786 | ENSP00000436786.2 | |
| KMT2C | ENSP00000262189 | ENSP00000262189 | ENSP00000262189.6 | |
| KMT2D | ENSP00000301067 | ENSP00000301067 | ENSP00000301067.7 | |
| KNSTRN | ENSP00000249776 | ENSP00000249776 | ENSP00000249776.8 | |
| KRAS | ENSP00000256078 | ENSP00000256078 | ENSP00000308495.3 | |
| LYN | ENSP00000428924 | ENSP00000428924 | ENSP00000428924.1 | |
| MAP2K1 | ENSP00000302486 | ENSP00000302486 | ENSP00000302486.5 | |
| MAP2K2 | ENSP00000262948 | ENSP00000262948 | ENSP00000262948.4 | |
| MAP2K4 | ENSP00000262445 | ENSP00000410402 | ENSP00000262445.5 | |
| MAP3K1 | ENSP00000382423 | ENSP00000382423 | ENSP00000382423.3 | |
| MAP3K13 | ENSP00000265026 | ENSP00000265026 | ENSP00000265026.3 | |
| MAPK1 | ENSP00000215832 | ENSP00000215832 | ENSP00000215832.7 | |
| MAX | ENSP00000351490 | ENSP00000351490 | ENSP00000351490.4 | |
| MED12 | ENSP00000363193 | ENSP00000363193 | ENSP00000363193.3 | |
| MEF2B | ENSP00000162023 | ENSP00000402154 | ENSP00000402154.2 | |
| MET | ENSP00000380860 | ENSP00000317272 | ENSP00000380860.3 | |
| MGA | ENSP00000219905 | ENSP00000219905 | N/A | non-coding in MANE |
| MSH2 | ENSP00000233146 | ENSP00000233146 | ENSP00000233146.2 | |
| MST1 | ENSP00000414287 | ENSP00000414287 | ENSP00000414287.2 | |
| MTOR | ENSP00000354558 | ENSP00000354558 | ENSP00000354558.4 | |
| MYC | ENSP00000367207 | ENSP00000479618 | ENSP00000478887.2 | |
| MYCN | ENSP00000281043 | ENSP00000281043 | ENSP00000281043.3 | |
| MYD88 | ENSP00000379625 | ENSP00000379625 | ENSP00000498360.2 | |
| MYOD1 | ENSP00000250003 | ENSP00000250003 | ENSP00000250003.3 | |
| NCOA3 | ENSP00000361066 | ENSP00000361066 | ENSP00000361066.3 | |
| NF1 | ENSP00000351015 | ENSP00000351015 | ENSP00000351015.4 | |
| NFE2L2 | ENSP00000380252 | ENSP00000380252 | ENSP00000380252.3 | |
| NOTCH1 | ENSP00000277541 | ENSP00000277541 | ENSP00000498587.1 | |
| NOTCH2 | ENSP00000256646 | ENSP00000256646 | ENSP00000256646.2 | |
| NRAS | ENSP00000358548 | ENSP00000358548 | ENSP00000358548.4 | |
| NSD1 | ENSP00000395929 | ENSP00000395929 | ENSP00000395929.2 | |
| NUP93 | ENSP00000310668 | ENSP00000310668 | ENSP00000310668.5 | |
| PAK7 | ENSP00000322957 | ENSP00000367686 | ENSP00000322957.5 | PAK5 in MANE |
| PARP1 | ENSP00000355759 | ENSP00000355759 | ENSP00000355759.5 | |
| PAX5 | ENSP00000350844 | ENSP00000350844 | ENSP00000350844.4 | |
| PBRM1 | ENSP00000378307 | ENSP00000378307 | N/A | Pending MANE review |
| PDGFRA | ENSP00000257290 | ENSP00000257290 | ENSP00000257290.5 | |
| PDPK1 | ENSP00000344220 | ENSP00000344220 | ENSP00000344220.4 | |
| PGR | ENSP00000325120 | ENSP00000325120 | ENSP00000325120.5 | |
| PIK3CA | ENSP00000263967 | ENSP00000263967 | ENSP00000263967.3 | |
| PIK3CB | ENSP00000289153 | ENSP00000289153 | ENSP00000501150.1 | |
| PIK3CD | ENSP00000366563 | ENSP00000366563 | ENSP00000366563.4 | |
| PIK3R1 | ENSP00000274335 | ENSP00000428056 | ENSP00000428056.1 | |
| PIK3R2 | ENSP00000222254 | ENSP00000222254 | ENSP00000222254.6 | |
| PIM1 | ENSP00000362608 | ENSP00000362608 | ENSP00000362608.5 | |
| PLK2 | ENSP00000274289 | ENSP00000274289 | ENSP00000274289.3 | |
| PMS2 | ENSP00000265849 | ENSP00000265849 | ENSP00000265849.7 | |
| POLE | ENSP00000322570 | ENSP00000322570 | ENSP00000322570.5 | |
| PPM1D | ENSP00000306682 | ENSP00000306682 | ENSP00000306682.2 | |
| PPP2R1A | ENSP00000324804 | ENSP00000324804 | ENSP00000324804.6 | |
| PPP4R2 | ENSP00000432104 | ENSP00000349124 | ENSP00000349124.5 | |
| PPP6C | ENSP00000362648 | ENSP00000392147 | ENSP00000362648.4 | |
| PRDM14 | ENSP00000276594 | ENSP00000276594 | ENSP00000276594.2 | |
| PREX2 | ENSP00000288368 | ENSP00000288368 | ENSP00000288368.4 | |
| PRKCI | ENSP00000295797 | ENSP00000295797 | ENSP00000295797.4 | |
| PTEN | ENSP00000361021 | ENSP00000361021 | ENSP00000361021.3 | |
| PTPN11 | ENSP00000340944 | ENSP00000340944 | ENSP00000340944.3 | |
| PTPRD | ENSP00000348812 | ENSP00000370593 | ENSP00000370593.3 | |
| PTPRS | ENSP00000349932 | ENSP00000465185 | ENSP00000262963.8 | |
| PTPRT | ENSP00000362294 | ENSP00000362294 | ENSP00000362283.1 | |
| RAC1 | ENSP00000348461 | ENSP00000348461 | ENSP00000258737.7 | |
| RAD50 | ENSP00000265335 | ENSP00000368100 | ENSP00000368100.4 | |
| RAD51C | ENSP00000336701 | ENSP00000336701 | ENSP00000336701.4 | |
| RAD52 | ENSP00000351284 | ENSP00000351284 | ENSP00000351284.3 | |
| RAF1 | ENSP00000251849 | ENSP00000251849 | ENSP00000251849.4 | |
| RARA | ENSP00000254066 | ENSP00000254066 | ENSP00000254066.5 | |
| RB1 | ENSP00000267163 | ENSP00000267163 | ENSP00000267163.4 | |
| RBM10 | ENSP00000328848 | ENSP00000366829 | ENSP00000366829.3 | |
| RECQL4 | ENSP00000475456 | ENSP00000482313 | ENSP00000482313.2 | |
| RET | ENSP00000347942 | ENSP00000347942 | ENSP00000347942.3 | |
| RHEB | ENSP00000262187 | ENSP00000262187 | ENSP00000262187.5 | |
| RHOA | ENSP00000400175 | ENSP00000400175 | ENSP00000400175.1 | |
| RICTOR | ENSP00000349959 | ENSP00000349959 | ENSP00000349959.3 | |
| RIT1 | ENSP00000357306 | ENSP00000357306 | ENSP00000357306.3 | |
| RNF43 | ENSP00000385328 | ENSP00000462764 | ENSP00000385328.2 | |
| RPS6KA4 | ENSP00000333896 | ENSP00000333896 | ENSP00000333896.4 | |
| RPTOR | ENSP00000307272 | ENSP00000307272 | ENSP00000307272.3 | |
| RRAS2 | ENSP00000256196 | ENSP00000437547 | ENSP00000256196.4 | |
| RUNX1 | ENSP00000300305 | ENSP00000409227 | ENSP00000501943.1 | |
| RXRA | ENSP00000419692 | ENSP00000419692 | ENSP00000419692.1 | |
| SDHA | ENSP00000264932 | ENSP00000264932 | ENSP00000264932.6 | |
| SDHAF2 | ENSP00000301761 | ENSP00000301761 | ENSP00000301761.3 | |
| SESN2 | ENSP00000253063 | ENSP00000253063 | ENSP00000253063.3 | |
| SETD2 | ENSP00000386759 | ENSP00000386759 | ENSP00000386759.3 | |
| SF3B1 | ENSP00000335321 | ENSP00000335321 | ENSP00000335321.6 | |
| SMAD2 | ENSP00000262160 | ENSP00000349282 | ENSP00000262160.6 | |
| SMAD3 | ENSP00000332973 | ENSP00000332973 | ENSP00000332973.4 | |
| SMAD4 | ENSP00000341551 | ENSP00000341551 | ENSP00000341551.3 | |
| SMARCA4 | ENSP00000343896 | ENSP00000397783 | ENSP00000343896.4 | |
| SMARCB1 | ENSP00000263121 | ENSP00000263121 | ENSP00000494049.2 | |
| SMARCD1 | ENSP00000378414 | ENSP00000378414 | ENSP00000378414.4 | |
| SMO | ENSP00000249373 | ENSP00000249373 | ENSP00000249373.3 | |
| SOCS1 | ENSP00000329418 | ENSP00000329418 | ENSP00000329418.2 | |
| SOS1 | ENSP00000384675 | ENSP00000384675 | ENSP00000384675.2 | |
| SOX17 | ENSP00000297316 | ENSP00000297316 | ENSP00000297316.4 | |
| SPOP | ENSP00000240327 | ENSP00000377001 | ENSP00000425905.1 | |
| SPRED1 | ENSP00000299084 | ENSP00000299084 | ENSP00000299084.4 | |
| SRSF2 | ENSP00000353089 | ENSP00000376276 | ENSP00000353089.5 | |
| STAG2 | ENSP00000218089 | ENSP00000218089 | ENSP00000360187.4 | |
| STAT3 | ENSP00000264657 | ENSP00000264657 | ENSP00000264657.4 | |
| STK11 | ENSP00000324856 | ENSP00000324856 | ENSP00000324856.6 | |
| STK19 | ENSP00000364480 | ENSP00000364482 | ENSP00000509445.1 | |
| SUZ12 | ENSP00000316578 | ENSP00000316578 | ENSP00000316578.5 | |
| TBX3 | ENSP00000257566 | ENSP00000257566 | ENSP00000257567.2 | |
| TCEB1 | ENSP00000284811 | ENSP00000428171 | ENSP00000428171.1 | ELOC in MANE |
| TCF3 | ENSP00000344375 | ENSP00000262965 | ENSP00000262965.5 | |
| TCF7L2 | ENSP00000444972 | ENSP00000358404 | ENSP00000348274.4 | |
| TET1 | ENSP00000362748 | ENSP00000362748 | ENSP00000362748.4 | |
| TET2 | ENSP00000369351 | ENSP00000369351 | ENSP00000369351.4 | |
| TGFBR1 | ENSP00000364133 | ENSP00000364133 | ENSP00000364133.4 | |
| TGFBR2 | ENSP00000351905 | ENSP00000351905 | ENSP00000295754.5 | |
| TNFRSF14 | ENSP00000347948 | ENSP00000347948 | ENSP00000347948.4 | |
| TP53 | ENSP00000269305 | ENSP00000269305 | ENSP00000269305.4 | |
| TP63 | ENSP00000264731 | ENSP00000264731 | ENSP00000264731.3 | |
| TRAF7 | ENSP00000318944 | ENSP00000318944 | ENSP00000318944.6 | |
| TSC1 | ENSP00000298552 | ENSP00000298552 | ENSP00000298552.3 | |
| U2AF1 | ENSP00000291552 | ENSP00000291552 | ENSP00000291552.4 | |
| VHL | ENSP00000256474 | ENSP00000256474 | ENSP00000256474.3 | |
| WHSC1 | ENSP00000372347 | ENSP00000423972 | ENSP00000423972.1 | NSD2 in MANE |
| XPO1 | ENSP00000384863 | ENSP00000384863 | ENSP00000384863.2 |
In cases where the protein ID does not match, we will not detect a hotspot in that gene. We recommend navigating to the cancerhotspots.org database via the linkout provided and manually searching for the hotspot, then comparing protein sequences to ensure the protein sequence matches at that position.
Info
Cancer hotspot annotations are not currently available for splice variants or InDels, but will be in a future release. Until then, we recommend you check the cancerhotspots.org website for these variants.
Last update:
2025-03-11