Disease intelligence · mutation landscape
Small cell lung cancer mutation landscape
How often each gene is altered in small cell lung cancer, in each sequenced cohort, over the patients on whom it could have been called. Copy number is its own row. Nothing is pooled.
Answer block
In Small Cell Lung Cancer (U Cologne, Nature 2015) (120 sequenced patients, exome or genome), the most frequently altered of the 50 genes shown are TP53 84.17%, RB1 69.17%, NAV3 27.5%, PCDH15 26.67%, EYS 22.5%. Each figure divides by the patients on whom that gene could be called.
Of the briefing's 12 curated targets, 7 are altered in under 2% of this cohort (MYC, MYCL, ASCL1, POU2F3, YAP1, BCL2, CD274): targets by expression, dependency or drug label, not by mutation. Frequency is not targetability, in either direction.
2 cohorts are shown and none are pooled; overlap between them has not been checked and there is no disease-wide percentage.
Evidence boundary: frequency here is a count in a named cohort. Whether an alteration is a driver, is actionable, or has a drug is the briefing's question and is not inferred from these numbers.
What is altered, by cohort
One row per alteration, not per gene: a gene that is amplified and rarely mutated (ERBB2, MYCN, EGFR) gets a row for each. Every cell divides by its own denominator — the patients in that cohort on whom that gene could be called. Copy-number rows are shown only where at least one cohort reaches 2%.
| Alteration | sclc_ucologne_2015 120 pts · exome or genome | sclc_jhu 80 pts · exome or genome |
|---|---|---|
| DLL3 SNV / small indel | 2.5%3/120 | 0% |
| TP53 SNV / small indel | 84.17%101/120 | 45.0%36/80 |
| RB1 SNV / small indel | 69.17%83/120 | 23.75%19/80 |
| MYC SNV / small indel | 0% | 0% |
| MYCL SNV / small indel | 0% | 0% |
| ASCL1 SNV / small indel | 0.83%1/120 | 0% |
| NEUROD1 SNV / small indel | 3.33%4/120 | 2.5%2/80 |
| POU2F3 SNV / small indel | 1.67%2/120 | 0% |
| YAP1 SNV / small indel | 0% | 0% |
| SLFN11 SNV / small indel | 5.83%7/120 | 1.25%1/80 |
| BCL2 SNV / small indel | 0.83%1/120 | 0% |
| CD274 SNV / small indel | 0.83%1/120 | 0% |
| NAV3 SNV / small indel | 27.5%33/120 | 8.75%7/80 |
| PCDH15 SNV / small indel | 26.67%32/120 | 1.25%1/80 |
| EYS SNV / small indel | 22.5%27/120 | 6.25%5/80 |
| FAM135B SNV / small indel | 21.67%26/120 | 8.75%7/80 |
| FSIP2 SNV / small indel | 20.83%25/120 | 8.75%7/80 |
| ANKRD30B SNV / small indel | 20.83%25/120 | 0% |
| TMEM132D SNV / small indel | 20.0%24/120 | 6.25%5/80 |
| SI SNV / small indel | 20.0%24/120 | 7.5%6/80 |
| PKHD1 SNV / small indel | 20.0%24/120 | 8.75%7/80 |
| ERICH3 SNV / small indel | 19.17%23/120 | 8.75%7/80 |
| KMT2D SNV / small indel | 18.33%22/120 | 3.75%3/80 |
| ADGB SNV / small indel | 18.33%22/120 | 6.25%5/80 |
| TNR SNV / small indel | 17.5%21/120 | 1.25%1/80 |
| NCAM2 SNV / small indel | 17.5%21/120 | 5.0%4/80 |
| HCN1 SNV / small indel | 17.5%21/120 | 13.75%11/80 |
| SPHKAP SNV / small indel | 16.67%20/120 | 6.25%5/80 |
| FMN2 SNV / small indel | 16.67%20/120 | 5.0%4/80 |
| PRDM9 SNV / small indel | 15.83%19/120 | 7.5%6/80 |
| CRACD SNV / small indel | 15.83%19/120 | 3.75%3/80 |
| UNC80 SNV / small indel | 15.0%18/120 | 1.25%1/80 |
| MROH2B SNV / small indel | 15.0%18/120 | 1.25%1/80 |
| CDH10 SNV / small indel | 15.0%18/120 | 3.75%3/80 |
| CACNA1E SNV / small indel | 15.0%18/120 | 2.5%2/80 |
| CFAP47 SNV / small indel | 14.17%17/120 | 5.0%4/80 |
| CDH9 SNV / small indel | 14.17%17/120 | 2.5%2/80 |
| BRINP3 SNV / small indel | 14.17%17/120 | 10.0%8/80 |
| TNN SNV / small indel | 13.33%16/120 | 5.0%4/80 |
| TMEM132C SNV / small indel | 13.33%16/120 | 2.5%2/80 |
| STAB2 SNV / small indel | 13.33%16/120 | 2.5%2/80 |
| RIMS1 SNV / small indel | 13.33%16/120 | 1.25%1/80 |
| PIEZO2 SNV / small indel | 13.33%16/120 | 1.25%1/80 |
| OTOGL SNV / small indel | 13.33%16/120 | 0% |
| NOTCH1 SNV / small indel | 13.33%16/120 | 1.25%1/80 |
| MYH2 SNV / small indel | 13.33%16/120 | 8.75%7/80 |
| LRTM3 SNV / small indel | 13.33%16/120 | 0% |
| LRRC7 SNV / small indel | 13.33%16/120 | 6.25%5/80 |
| LAMA2 SNV / small indel | 13.33%16/120 | 5.0%4/80 |
| FCGBP SNV / small indel | 13.33%16/120 | 2.5%2/80 |
observed — shade scales with frequency, full at 30% assayed, none found not on this cohort's panel cohort not readable
Key findings
TP53 is mutated in 101 of 120 patients in Small Cell Lung Cancer (U Cologne, Nature 2015).
RB1 is mutated in 83 of 120 patients in Small Cell Lung Cancer (U Cologne, Nature 2015).
NAV3 is mutated in 33 of 120 patients in Small Cell Lung Cancer (U Cologne, Nature 2015).
Gene table — reference cohort
Headline values are from the reference cohort, sclc_ucologne_2015; the matrix above keeps every cohort separate. "Curated" marks a gene the disease briefing lists as a target; the rest are here because they are among the most frequently mutated genes in the reference cohort. Recurrent changes are the reference cohort's commonest protein changes.
| Gene | Why listed | Largest alteration | Altered / tested | Frequency | Without hypermutated | Cohorts observed | Range across cohorts | Recurrent changes |
|---|---|---|---|---|---|---|---|---|
| DLL3 | curated target | SNV / small indel | 3 / 120 | 2.5% | — | 1 / 2 | 0.0–2.5% | G156V (n=1), P432T (n=1), E586D (n=1) |
| TP53 | curated target | SNV / small indel | 101 / 120 | 84.17% | — | 2 / 2 | 45.0–84.17% | A159P (n=4), R273L (n=3), H179R (n=3), X33_splice (n=2), X332_splice (n=2) |
| RB1 | curated target | SNV / small indel | 83 / 120 | 69.17% | — | 2 / 2 | 23.75–69.17% | X445_splice (n=3), Y454* (n=2), X474_splice (n=2), X89_splice (n=2), X738_splice (n=2) |
| MYC | curated target | SNV / small indel | 0 / 120 | 0.0% | — | 0 / 2 | 0.0–0.0% | none recurrent |
| MYCL | curated target | SNV / small indel | 0 / 120 | 0.0% | — | 0 / 2 | 0.0–0.0% | none recurrent |
| ASCL1 | curated target | SNV / small indel | 1 / 120 | 0.83% | — | 1 / 2 | 0.0–0.83% | K87Q (n=1) |
| NEUROD1 | curated target | SNV / small indel | 4 / 120 | 3.33% | — | 2 / 2 | 2.5–3.33% | P304R (n=1), K105N (n=1), T300S (n=1), P272H (n=1) |
| POU2F3 | curated target | SNV / small indel | 2 / 120 | 1.67% | — | 1 / 2 | 0.0–1.67% | G279C (n=1), Q44H (n=1) |
| YAP1 | curated target | SNV / small indel | 0 / 120 | 0.0% | — | 0 / 2 | 0.0–0.0% | none recurrent |
| SLFN11 | curated target | SNV / small indel | 7 / 120 | 5.83% | — | 2 / 2 | 1.25–5.83% | C150S (n=1), D191E (n=1), R802K (n=1), M844I (n=1), R798H (n=1) |
| BCL2 | curated target | SNV / small indel | 1 / 120 | 0.83% | — | 1 / 2 | 0.0–0.83% | E114Q (n=1) |
| CD274 | curated target | SNV / small indel | 1 / 120 | 0.83% | — | 1 / 2 | 0.0–0.83% | T277K (n=1) |
| NAV3 | by frequency | SNV / small indel | 33 / 120 | 27.5% | — | 2 / 2 | 8.75–27.5% | R1832L (n=1), M841L (n=1), I1079M (n=1), Q1570L (n=1), T1062N (n=1) |
| PCDH15 | by frequency | SNV / small indel | 32 / 120 | 26.67% | — | 2 / 2 | 1.25–26.67% | G486R (n=1), M482I (n=1), L1378* (n=1), G586V (n=1), P481L (n=1) |
| EYS | by frequency | SNV / small indel | 27 / 120 | 22.5% | — | 2 / 2 | 6.25–22.5% | V1930I (n=1), Q456K (n=1), A579V (n=1), Q2127E (n=1), A2235E (n=1) |
| FAM135B | by frequency | SNV / small indel | 26 / 120 | 21.67% | — | 2 / 2 | 8.75–21.67% | S558Y (n=1), L269M (n=1), R866S (n=1), E53D (n=1), G186E (n=1) |
| FSIP2 | by frequency | SNV / small indel | 25 / 120 | 20.83% | — | 2 / 2 | 8.75–20.83% | P3265R (n=1), R111P (n=1), P2887Lfs*107 (n=1), I1348N (n=1), E2991D (n=1) |
| ANKRD30B | by frequency | SNV / small indel | 25 / 120 | 20.83% | — | 1 / 2 | 0.0–20.83% | E485* (n=1), R48P (n=1), C374Y (n=1), K664E (n=1), X618_splice (n=1) |
| TMEM132D | by frequency | SNV / small indel | 24 / 120 | 20.0% | — | 2 / 2 | 6.25–20.0% | R184L (n=1), G493W (n=1), P722A (n=1), C928G (n=1), E986* (n=1) |
| SI | by frequency | SNV / small indel | 24 / 120 | 20.0% | — | 2 / 2 | 7.5–20.0% | D946Y (n=1), L1347V (n=1), L702M (n=1), X340_splice (n=1), I799N (n=1) |
| PKHD1 | by frequency | SNV / small indel | 24 / 120 | 20.0% | — | 2 / 2 | 8.75–20.0% | D2289Y (n=1), H2214N (n=1), D2889Y (n=1), W3576R (n=1), Q2637L (n=1) |
| ERICH3 | by frequency | SNV / small indel | 23 / 120 | 19.17% | — | 2 / 2 | 8.75–19.17% | A599V (n=1), L1070R (n=1), D1249H (n=1), G242A (n=1), E423* (n=1) |
| KMT2D | by frequency | SNV / small indel | 22 / 120 | 18.33% | — | 2 / 2 | 3.75–18.33% | A4885Pfs*110 (n=1), P2558L (n=1), K274E (n=1), M3662Gfs*12 (n=1), K4841Rfs*17 (n=1) |
| ADGB | by frequency | SNV / small indel | 22 / 120 | 18.33% | — | 2 / 2 | 6.25–18.33% | W61R (n=1), Y1074H (n=1), T790M (n=1), A1470V (n=1), R923I (n=1) |
| TNR | by frequency | SNV / small indel | 21 / 120 | 17.5% | — | 2 / 2 | 1.25–17.5% | G711V (n=1), E571V (n=1), G5V (n=1), S1161R (n=1), T237K (n=1) |
| NCAM2 | by frequency | SNV / small indel | 21 / 120 | 17.5% | — | 2 / 2 | 5.0–17.5% | K38* (n=1), Q70E (n=1), A400S (n=1), A621D (n=1), R66K (n=1) |
| HCN1 | by frequency | SNV / small indel | 21 / 120 | 17.5% | — | 2 / 2 | 13.75–17.5% | H286Q (n=1), P861T (n=1), V154A (n=1), G441S (n=1), G848E (n=1) |
| SPHKAP | by frequency | SNV / small indel | 20 / 120 | 16.67% | — | 2 / 2 | 6.25–16.67% | R645S (n=1), T1405N (n=1), T741N (n=1), L1608P (n=1), C1286* (n=1) |
| FMN2 | by frequency | SNV / small indel | 20 / 120 | 16.67% | — | 2 / 2 | 5.0–16.67% | E351* (n=2), A491S (n=1), Q1619E (n=1), P912H (n=1), R621L (n=1) |
| PRDM9 | by frequency | SNV / small indel | 19 / 120 | 15.83% | — | 2 / 2 | 7.5–15.83% | E455D (n=1), A137V (n=1), R880K (n=1), S478R (n=1), Q502L (n=1) |
| CRACD | by frequency | SNV / small indel | 19 / 120 | 15.83% | — | 2 / 2 | 3.75–15.83% | G198V (n=1), R1155G (n=1), G545R (n=1), G544* (n=1), D877H (n=1) |
| UNC80 | by frequency | SNV / small indel | 18 / 120 | 15.0% | — | 2 / 2 | 1.25–15.0% | R1071S (n=1), K563R (n=1), L813V (n=1), V2737L (n=1), T1354N (n=1) |
| MROH2B | by frequency | SNV / small indel | 18 / 120 | 15.0% | — | 2 / 2 | 1.25–15.0% | G1470V (n=1), T1377I (n=1), R947H (n=1), L1162M (n=1), D62Y (n=1) |
| CDH10 | by frequency | SNV / small indel | 18 / 120 | 15.0% | — | 2 / 2 | 3.75–15.0% | P170N (n=1), N194Tfs*32 (n=1), R687Q (n=1), S195R (n=1), V140E (n=1) |
| CACNA1E | by frequency | SNV / small indel | 18 / 120 | 15.0% | — | 2 / 2 | 2.5–15.0% | X1606_splice (n=1), R459G (n=1), L766Q (n=1), G2084R (n=1), Y1191N (n=1) |
| CFAP47 | by frequency | SNV / small indel | 17 / 120 | 14.17% | — | 2 / 2 | 5.0–14.17% | N148Y (n=1), Y294C (n=1), V840L (n=1), Q216E (n=1), T872Yfs*3 (n=1) |
| CDH9 | by frequency | SNV / small indel | 17 / 120 | 14.17% | — | 2 / 2 | 2.5–14.17% | D132E (n=1), G68C (n=1), P772T (n=1), I91M (n=1), W453C (n=1) |
| BRINP3 | by frequency | SNV / small indel | 17 / 120 | 14.17% | — | 2 / 2 | 10.0–14.17% | L629Q (n=1), L303H (n=1), M294Nfs*15 (n=1), S516R (n=1), F576I (n=1) |
| TNN | by frequency | SNV / small indel | 16 / 120 | 13.33% | — | 2 / 2 | 5.0–13.33% | R662M (n=2), E377R (n=1), V777L (n=1), I1174L (n=1), P553T (n=1) |
| TMEM132C | by frequency | SNV / small indel | 16 / 120 | 13.33% | — | 2 / 2 | 2.5–13.33% | G677V (n=1), I998T (n=1), S217* (n=1), Q1035K (n=1), N794_V795delinsKF (n=1) |
| STAB2 | by frequency | SNV / small indel | 16 / 120 | 13.33% | — | 2 / 2 | 2.5–13.33% | T1696M (n=1), T1134S (n=1), Q1657Pfs*46 (n=1), T180N (n=1), C794* (n=1) |
| RIMS1 | by frequency | SNV / small indel | 16 / 120 | 13.33% | — | 2 / 2 | 1.25–13.33% | H130R (n=1), A102V (n=1), G1628C (n=1), A402Gfs*30 (n=1), K1382N (n=1) |
| PIEZO2 | by frequency | SNV / small indel | 16 / 120 | 13.33% | — | 2 / 2 | 1.25–13.33% | T1373I (n=1), V6M (n=1), A391T (n=1), G383W (n=1), T1816A (n=1) |
| OTOGL | by frequency | SNV / small indel | 16 / 120 | 13.33% | — | 1 / 2 | 0.0–13.33% | T454N (n=1), A1123T (n=1), G625V (n=1), Q1117* (n=1), W1047S (n=1) |
| NOTCH1 | by frequency | SNV / small indel | 16 / 120 | 13.33% | — | 2 / 2 | 1.25–13.33% | E639K (n=1), C400F (n=1), X914_splice (n=1), G920Afs*259 (n=1), H1190P (n=1) |
| MYH2 | by frequency | SNV / small indel | 16 / 120 | 13.33% | — | 2 / 2 | 8.75–13.33% | Q1166H (n=1), H1934D (n=1), K1248R (n=1), D1798Y (n=1), I1075F (n=1) |
| LRTM3 | by frequency | SNV / small indel | 16 / 120 | 13.33% | — | 1 / 2 | 0.0–13.33% | L1974Rfs*8 (n=1), F2388Lfs*25 (n=1), Q100K (n=1), E463K (n=1), Q1546H (n=1) |
| LRRC7 | by frequency | SNV / small indel | 16 / 120 | 13.33% | — | 2 / 2 | 6.25–13.33% | C510Y (n=1), L721F (n=1), S262C (n=1), M579I (n=1), S1206C (n=1) |
| LAMA2 | by frequency | SNV / small indel | 16 / 120 | 13.33% | — | 2 / 2 | 5.0–13.33% | H931N (n=2), C847S (n=1), P439S (n=1), D316Y (n=1), Q1736K (n=1) |
| FCGBP | by frequency | SNV / small indel | 16 / 120 | 13.33% | — | 2 / 2 | 2.5–13.33% | G2670R (n=2), F4091Y (n=1), W1126R (n=1), P4687A (n=1), D4556Y (n=1) |
Cohorts
Listed in the disease profile, not searched: a name search returns the same patients under several accessions. Patients are unique patient ids in the study's sequenced sample list. Hypermutated: more than ten times the cohort's median non-silent mutations per sample, and at least 100.
| Cohort | Accession | Patients | Samples sequenced / in study | Assay | Panels (samples) | Build | Profiles read | Hypermutated patients | Median mutations / sample |
|---|---|---|---|---|---|---|---|---|---|
| Small Cell Lung Cancer (U Cologne, Nature 2015) reference | sclc_ucologne_2015 | 120 observed | 120 / 120 | exome or genome | WES (120) | hg19 | SNV, small indel, structural variant (profile present, not read) | 0 | 220.0 |
| Small Cell Lung Cancer (Johns Hopkins, Nat Genet 2012) | sclc_jhu | 80 observed | 80 / 80 | exome or genome | WES (80) | hg19 | SNV, small indel, structural variant (profile present, not read) | 1 | 38.5 |
Copy-number events
Discrete calls from each study's copy-number profile: 2 is high-level amplification, −2 deep deletion. Gains and shallow losses are not counted. Denominators are the cohort's copy-number sample list, which differs from its sequenced list. Rows at 2% or more.
| Gene | Event | Observed patients | Tested patients | Frequency | Cohort | Profile |
|---|---|---|---|---|---|---|
| No copy-number profile reached 2% for any listed gene, or no cohort carries one. | ||||||
Cohort-aware frequencies
Each row is calculated from unique patients in that study's sequenced sample list. The range is descriptive; no pooled estimate is shown because cross-study overlap and assay comparability have not been checked.
| Gene | Range | Per cohort (altered / tested) |
|---|---|---|
| DLL3 | 0.0–2.5% | sclc_ucologne_2015: 3/120 (2.5%) · sclc_jhu: 0/80 (0.0%) |
| TP53 | 45.0–84.17% | sclc_ucologne_2015: 101/120 (84.17%) · sclc_jhu: 36/80 (45.0%) |
| RB1 | 23.75–69.17% | sclc_ucologne_2015: 83/120 (69.17%) · sclc_jhu: 19/80 (23.75%) |
| MYC | 0.0–0.0% | sclc_ucologne_2015: 0/120 (0.0%) · sclc_jhu: 0/80 (0.0%) |
| MYCL | 0.0–0.0% | sclc_ucologne_2015: 0/120 (0.0%) · sclc_jhu: 0/80 (0.0%) |
| ASCL1 | 0.0–0.83% | sclc_ucologne_2015: 1/120 (0.83%) · sclc_jhu: 0/80 (0.0%) |
| NEUROD1 | 2.5–3.33% | sclc_ucologne_2015: 4/120 (3.33%) · sclc_jhu: 2/80 (2.5%) |
| POU2F3 | 0.0–1.67% | sclc_ucologne_2015: 2/120 (1.67%) · sclc_jhu: 0/80 (0.0%) |
| YAP1 | 0.0–0.0% | sclc_ucologne_2015: 0/120 (0.0%) · sclc_jhu: 0/80 (0.0%) |
| SLFN11 | 1.25–5.83% | sclc_ucologne_2015: 7/120 (5.83%) · sclc_jhu: 1/80 (1.25%) |
| BCL2 | 0.0–0.83% | sclc_ucologne_2015: 1/120 (0.83%) · sclc_jhu: 0/80 (0.0%) |
| CD274 | 0.0–0.83% | sclc_ucologne_2015: 1/120 (0.83%) · sclc_jhu: 0/80 (0.0%) |
| NAV3 | 8.75–27.5% | sclc_ucologne_2015: 33/120 (27.5%) · sclc_jhu: 7/80 (8.75%) |
| PCDH15 | 1.25–26.67% | sclc_ucologne_2015: 32/120 (26.67%) · sclc_jhu: 1/80 (1.25%) |
| EYS | 6.25–22.5% | sclc_ucologne_2015: 27/120 (22.5%) · sclc_jhu: 5/80 (6.25%) |
| FAM135B | 8.75–21.67% | sclc_ucologne_2015: 26/120 (21.67%) · sclc_jhu: 7/80 (8.75%) |
| FSIP2 | 8.75–20.83% | sclc_ucologne_2015: 25/120 (20.83%) · sclc_jhu: 7/80 (8.75%) |
| ANKRD30B | 0.0–20.83% | sclc_ucologne_2015: 25/120 (20.83%) · sclc_jhu: 0/80 (0.0%) |
| TMEM132D | 6.25–20.0% | sclc_ucologne_2015: 24/120 (20.0%) · sclc_jhu: 5/80 (6.25%) |
| SI | 7.5–20.0% | sclc_ucologne_2015: 24/120 (20.0%) · sclc_jhu: 6/80 (7.5%) |
| PKHD1 | 8.75–20.0% | sclc_ucologne_2015: 24/120 (20.0%) · sclc_jhu: 7/80 (8.75%) |
| ERICH3 | 8.75–19.17% | sclc_ucologne_2015: 23/120 (19.17%) · sclc_jhu: 7/80 (8.75%) |
| KMT2D | 3.75–18.33% | sclc_ucologne_2015: 22/120 (18.33%) · sclc_jhu: 3/80 (3.75%) |
| ADGB | 6.25–18.33% | sclc_ucologne_2015: 22/120 (18.33%) · sclc_jhu: 5/80 (6.25%) |
| TNR | 1.25–17.5% | sclc_ucologne_2015: 21/120 (17.5%) · sclc_jhu: 1/80 (1.25%) |
| NCAM2 | 5.0–17.5% | sclc_ucologne_2015: 21/120 (17.5%) · sclc_jhu: 4/80 (5.0%) |
| HCN1 | 13.75–17.5% | sclc_ucologne_2015: 21/120 (17.5%) · sclc_jhu: 11/80 (13.75%) |
| SPHKAP | 6.25–16.67% | sclc_ucologne_2015: 20/120 (16.67%) · sclc_jhu: 5/80 (6.25%) |
| FMN2 | 5.0–16.67% | sclc_ucologne_2015: 20/120 (16.67%) · sclc_jhu: 4/80 (5.0%) |
| PRDM9 | 7.5–15.83% | sclc_ucologne_2015: 19/120 (15.83%) · sclc_jhu: 6/80 (7.5%) |
| CRACD | 3.75–15.83% | sclc_ucologne_2015: 19/120 (15.83%) · sclc_jhu: 3/80 (3.75%) |
| UNC80 | 1.25–15.0% | sclc_ucologne_2015: 18/120 (15.0%) · sclc_jhu: 1/80 (1.25%) |
| MROH2B | 1.25–15.0% | sclc_ucologne_2015: 18/120 (15.0%) · sclc_jhu: 1/80 (1.25%) |
| CDH10 | 3.75–15.0% | sclc_ucologne_2015: 18/120 (15.0%) · sclc_jhu: 3/80 (3.75%) |
| CACNA1E | 2.5–15.0% | sclc_ucologne_2015: 18/120 (15.0%) · sclc_jhu: 2/80 (2.5%) |
| CFAP47 | 5.0–14.17% | sclc_ucologne_2015: 17/120 (14.17%) · sclc_jhu: 4/80 (5.0%) |
| CDH9 | 2.5–14.17% | sclc_ucologne_2015: 17/120 (14.17%) · sclc_jhu: 2/80 (2.5%) |
| BRINP3 | 10.0–14.17% | sclc_ucologne_2015: 17/120 (14.17%) · sclc_jhu: 8/80 (10.0%) |
| TNN | 5.0–13.33% | sclc_ucologne_2015: 16/120 (13.33%) · sclc_jhu: 4/80 (5.0%) |
| TMEM132C | 2.5–13.33% | sclc_ucologne_2015: 16/120 (13.33%) · sclc_jhu: 2/80 (2.5%) |
| STAB2 | 2.5–13.33% | sclc_ucologne_2015: 16/120 (13.33%) · sclc_jhu: 2/80 (2.5%) |
| RIMS1 | 1.25–13.33% | sclc_ucologne_2015: 16/120 (13.33%) · sclc_jhu: 1/80 (1.25%) |
| PIEZO2 | 1.25–13.33% | sclc_ucologne_2015: 16/120 (13.33%) · sclc_jhu: 1/80 (1.25%) |
| OTOGL | 0.0–13.33% | sclc_ucologne_2015: 16/120 (13.33%) · sclc_jhu: 0/80 (0.0%) |
| NOTCH1 | 1.25–13.33% | sclc_ucologne_2015: 16/120 (13.33%) · sclc_jhu: 1/80 (1.25%) |
| MYH2 | 8.75–13.33% | sclc_ucologne_2015: 16/120 (13.33%) · sclc_jhu: 7/80 (8.75%) |
| LRTM3 | 0.0–13.33% | sclc_ucologne_2015: 16/120 (13.33%) · sclc_jhu: 0/80 (0.0%) |
| LRRC7 | 6.25–13.33% | sclc_ucologne_2015: 16/120 (13.33%) · sclc_jhu: 5/80 (6.25%) |
| LAMA2 | 5.0–13.33% | sclc_ucologne_2015: 16/120 (13.33%) · sclc_jhu: 4/80 (5.0%) |
| FCGBP | 2.5–13.33% | sclc_ucologne_2015: 16/120 (13.33%) · sclc_jhu: 2/80 (2.5%) |
What this page does not do
Structural variants
Read the structural-variant profiles the studies carry; fusions are the defining event in several of these diseases.
Context
Stage, subtype, age and treatment line are not attached to any count; the cohorts differ on all four.
Interpretation
Activating versus inactivating, actionable versus not, and evidence level are not inferred here; the briefing's target table carries the drug and trial facts.
Limitations
- A cBioPortal public-API snapshot retrieved 2026-09-18; the page does not refresh source data at request time.
- Counts are patients with at least one non-silent call in the study's sequenced sample list; silent, intronic and UTR calls are excluded.
- For targeted-panel cohorts each gene divides by the patients whose panel carried it; a gene absent from the panel is shown as not assayed, not as zero.
- Copy-number rows use discrete calls (2 = high-level amplification, −2 = deep deletion) against the cohort's copy-number sample list, which is a different roster from the sequenced one.
- Cohorts are not pooled. Cross-study patient overlap has not been checked and no disease-wide frequency is reported.
- Structural variants and fusions are not read in this snapshot even where the study carries a profile; germline variants, mutational signatures, TMB and MSI are not reported.
- The gene set is the briefing's curated targets plus the reference cohort's most frequently mutated genes; it is not genome-wide.
How a machine should read this page
- Denominators: every frequency divides by the patients in one named cohort on whom the gene could be called; there is no disease-wide figure.
- Missing values:
not_assayed(the panel did not carry the gene),not_observed(assayed, none found) andnot_evaluable(the cohort could not be read) are three different facts and are never converted to zero. - Counting: patients, not samples; several samples from one patient count once. Non-silent calls only.
- Copy number: a separate assay with a separate roster; discrete calls at ±2 only.
- Hypermutation: flagged per cohort; the headline keeps all patients and the frequency without them is reported beside it.
- Provenance: every value carries the study id, the retrieval date and the processing version; the source is the cBioPortal public API.
Machine endpoints: full landscape · genes · cohorts · the disease's own facts: /disease/small-cell-lung-cancer.json.
Built by the BioTransfer briefings pipeline from the cBioPortal public API. The neuroblastoma page was assembled by hand and set the rules this page follows; how these are built.