Q9UQR0
PR
Gene name |
SCML2 |
Protein name |
Sex comb on midleg-like protein 2 |
Names |
|
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:10389 |
EC number |
|
Protein Class |
|
Descriptions
The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.
Autoinhibitory domains (AIDs)
Target domain |
|
Relief mechanism |
|
Assay |
cis-regPred |
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
318 variants for Q9UQR0
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA412490506 rs1191011524 |
3 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1191011524 CA412490507 |
3 | Q>E | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 7 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1029869232 CA327343111 |
8 | D>E | No |
ClinGen TOPMed |
|
|
CA327343110 rs867162549 |
9 | S>F | No |
ClinGen Ensembl |
|
| TCGA novel | 9 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10360141 rs754172887 |
10 | M>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 13 | K>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA412490416 rs1264871019 |
14 | K>E | No |
ClinGen gnomAD |
|
|
CA412490389 rs1602141320 |
17 | Q>R | No |
ClinGen Ensembl |
|
| TCGA novel | 18 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10360138 rs140760052 |
20 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA327343109 rs140760052 |
20 | T>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10360137 rs761178992 |
27 | S>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs373441860 CA10360136 |
28 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1253445627 CA412490282 |
31 | D>G | No |
ClinGen gnomAD |
|
|
rs1412142127 CA412490300 |
31 | D>N | No |
ClinGen TOPMed |
|
|
CA412490277 rs1179761295 |
32 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA412490259 rs1387856334 |
34 | H>R | No |
ClinGen TOPMed |
|
|
CA412490263 rs1231517035 |
34 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA412490254 rs1435669903 |
35 | W>R | No |
ClinGen TOPMed |
|
| TCGA novel | 36 | E>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs778434895 TCGA novel CA10360122 |
41 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC TOPMed gnomAD NCI-TCGA |
| TCGA novel | 43 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1307940614 CA412490159 |
48 | P>S | No |
ClinGen gnomAD |
|
|
rs756870174 CA10360121 |
51 | C>W | No |
ClinGen ExAC gnomAD |
|
|
rs757183756 CA10360120 |
53 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs374830979 CA10360119 |
53 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs756513741 CA10360101 |
59 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs150934178 CA10360100 |
66 | G>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA10360099 rs150934178 |
66 | G>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs144980753 CA10360097 |
72 | R>C | No |
ClinGen ESP ExAC gnomAD |
|
|
CA412489982 rs1435221964 |
72 | R>H | No |
ClinGen gnomAD |
|
|
rs1397248537 CA412489964 |
75 | R>G | No |
ClinGen gnomAD |
|
|
COSM212431 rs1390250943 CA412489961 |
75 | R>H | breast [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA10360096 rs766427319 |
76 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1399812576 CA412489952 |
77 | A>T | No |
ClinGen gnomAD |
|
|
CA412489945 rs1414061835 |
78 | T>P | No |
ClinGen TOPMed gnomAD |
|
|
CA412489943 rs1389944786 |
78 | T>S | No |
ClinGen TOPMed |
|
|
rs1402810834 CA412489934 |
80 | V>I | No |
ClinGen TOPMed |
|
|
CA10360095 rs758481675 |
82 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1363914629 COSM1118769 CA412489881 |
84 | T>M | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
| TCGA novel | 85 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA327342612 rs879137550 |
86 | I>F | No |
ClinGen Ensembl |
|
|
rs1384569498 CA412489860 |
86 | I>T | No |
ClinGen gnomAD |
|
|
CA412489828 rs1337442238 |
88 | I>T | No |
ClinGen Ensembl |
|
|
rs1416889799 CA412489811 |
89 | T>I | No |
ClinGen gnomAD |
|
|
CA10360093 rs185843767 |
94 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA10360092 rs762075724 |
96 | R>* | No |
ClinGen ExAC gnomAD |
|
|
CA327342611 rs868242299 |
98 | D>N | No |
ClinGen Ensembl |
|
|
rs1250045220 CA412489732 |
98 | D>V | No |
ClinGen gnomAD |
|
| TCGA novel | 99 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA327342610 rs866814963 |
105 | D>G | No |
ClinGen Ensembl |
|
| TCGA novel | 107 | W>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10360090 rs767349990 |
109 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA10360091 rs767349990 |
109 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1352672139 CA412489493 |
113 | P>Q | No |
ClinGen TOPMed |
|
|
rs3213544 CA412489469 |
114 | D>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs748803415 CA10360086 |
115 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1229844413 CA412489440 |
118 | V>L | No |
ClinGen gnomAD |
|
| TCGA novel | 126 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs772672329 CA412489357 |
129 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1602136899 CA412489354 |
130 | P>S | No |
ClinGen Ensembl |
|
|
rs1262883372 CA412489301 |
136 | M>K | No |
ClinGen TOPMed |
|
|
CA10360073 rs767270932 |
137 | N>D | No |
ClinGen ExAC gnomAD |
|
|
rs374956179 CA10360072 |
138 | T>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1027913796 CA327342373 |
140 | S>F | No |
ClinGen Ensembl |
|
|
CA10360071 rs774197804 |
141 | W>C | No |
ClinGen ExAC gnomAD |
|
|
rs995065888 CA327342372 |
142 | P>L | No |
ClinGen TOPMed |
|
|
CA412489253 rs1259164124 |
143 | M>I | No |
ClinGen TOPMed |
|
|
CA412489244 rs1445944087 |
144 | F>L | No |
ClinGen TOPMed |
|
|
rs145582013 CA10360069 |
156 | S>C | No |
ClinGen ESP ExAC TOPMed |
|
|
CA412489151 rs1433925618 |
158 | T>I | No |
ClinGen gnomAD |
|
|
CA10360066 rs761522155 |
162 | K>T | No |
ClinGen ExAC gnomAD |
|
|
rs1448736070 CA412489050 |
171 | N>Y | No |
ClinGen gnomAD |
|
| TCGA novel | 176 | M>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10360052 rs367902436 |
181 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA327341208 rs911587769 |
183 | K>R | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 185 | N>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1428884720 CA412488940 |
186 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA412488897 rs1202251940 |
192 | A>V | No |
ClinGen TOPMed |
|
|
CA10360051 rs751396310 |
193 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA327341207 rs867790965 |
195 | G>A | No |
ClinGen Ensembl |
|
|
rs148564968 CA327341206 |
196 | D>G | No |
ClinGen ESP gnomAD |
|
|
rs762883867 CA10360049 |
200 | D>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 200 | D>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA412488828 rs1250961327 |
203 | H>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1446622294 CA412488822 |
204 | I>V | No |
ClinGen TOPMed |
|
|
CA412488813 rs1239669711 |
205 | T>I | No |
ClinGen gnomAD |
|
|
rs1189506309 CA412488814 |
205 | T>S | No |
ClinGen TOPMed |
|
|
CA412488770 rs1322165728 |
211 | G>R | No |
ClinGen gnomAD |
|
|
CA412488745 rs1229899793 |
214 | D>E | No |
ClinGen gnomAD |
|
|
CA10360045 rs775963387 |
217 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1602121080 CA412488717 |
218 | K>E | No |
ClinGen Ensembl |
|
|
CA327341204 rs866090185 |
222 | R>* | No |
ClinGen Ensembl |
|
| TCGA novel | 222 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs73454384 CA327341203 |
224 | I>V | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs966687810 CA327341202 |
227 | A>P | No |
ClinGen Ensembl |
|
|
CA10360043 rs370964336 |
231 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10360042 rs775925712 |
231 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA327341200 rs867218621 |
234 | G>E | No |
ClinGen Ensembl |
|
|
CA327341201 rs61760958 |
234 | G>R | No |
ClinGen Ensembl |
|
| TCGA novel | 241 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 241 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 242 | T>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA327341199 rs989329696 |
243 | S>C | No |
ClinGen Ensembl |
|
|
CA10360040 rs746431886 |
243 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA412358546 rs1416154422 |
245 | P>L | No |
ClinGen TOPMed |
|
|
rs997759938 CA326979228 |
248 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
CA412358442 rs1259721239 |
250 | I>K | No |
ClinGen gnomAD |
|
|
CA10360029 rs765190623 |
250 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10360030 rs758176894 |
250 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs761687886 CA10360027 |
253 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 254 | E>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10360026 rs753401355 |
255 | S>A | No |
ClinGen ExAC gnomAD |
|
|
CA412358319 rs1365837607 |
256 | S>C | No |
ClinGen gnomAD |
|
|
rs774987849 CA10360023 |
259 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA412358128 rs1255819291 |
265 | M>I | No |
ClinGen TOPMed |
|
|
CA412358145 rs1458578617 |
265 | M>V | No |
ClinGen gnomAD |
|
|
rs759951731 CA10360021 |
268 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs149800502 CA10360020 |
269 | Q>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA412358039 rs1282156874 |
270 | K>E | No |
ClinGen TOPMed |
|
|
CA326979150 rs1047684531 |
272 | T>I | No |
ClinGen TOPMed |
|
|
rs1444631194 CA412357967 |
274 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs771591801 CA10360019 |
276 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA10360018 rs749703210 |
278 | Q>* | No |
ClinGen ExAC |
|
|
CA10360017 rs773347755 |
278 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA10360016 rs769758410 |
281 | R>S | No |
ClinGen ExAC |
|
| TCGA novel | 284 | S>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 285 | R>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA412357752 rs1350470579 |
285 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs781249290 CA10360014 |
288 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755152079 CA10360013 |
289 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs745683415 CA10360012 |
289 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA10360011 rs377384274 |
290 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10360010 rs757189793 |
290 | G>V | No |
ClinGen ExAC |
|
|
rs753711193 CA10360009 |
294 | V>G | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 295 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 297 | R>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1229750342 CA412357494 |
299 | S>I | No |
ClinGen gnomAD |
|
| TCGA novel | 300 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10360008 rs756916503 |
302 | K>Q | No |
ClinGen 1000Genomes ExAC |
|
|
CA10360007 rs139726773 |
304 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA412357364 rs1294918926 |
305 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA412357369 rs1294918926 |
305 | T>K | No |
ClinGen TOPMed gnomAD |
|
|
CA412357354 rs1347613506 |
306 | P>Q | No |
ClinGen gnomAD |
|
|
CA412357355 rs1387617792 |
306 | P>S | No |
ClinGen gnomAD |
|
|
CA412357360 rs1387617792 |
306 | P>T | No |
ClinGen gnomAD |
|
|
rs1301678223 CA412357337 |
307 | R>K | No |
ClinGen gnomAD |
|
| TCGA novel | 310 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs865840102 CA326979089 |
311 | P>L | No |
ClinGen Ensembl |
|
|
CA412357213 rs1460888120 |
313 | S>L | No |
ClinGen gnomAD |
|
| TCGA novel | 317 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA412356020 rs1234455787 |
318 | K>T | No |
ClinGen gnomAD |
|
|
CA10359992 rs747166447 |
321 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs1437165682 CA412355932 |
322 | V>A | No |
ClinGen gnomAD |
|
| TCGA novel | 322 | V>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10359991 rs202084900 |
323 | I>V | No |
ClinGen 1000Genomes ExAC |
|
|
CA326977305 rs867968784 |
326 | T>A | No |
ClinGen Ensembl |
|
| TCGA novel | 326 | T>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs757028343 CA10359990 |
333 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA10359987 rs756041899 |
338 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs1176515896 CA412355594 |
342 | Y>C | No |
ClinGen TOPMed |
|
|
CA10359986 rs371094815 |
342 | Y>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA412355579 rs1360734884 |
343 | K>E | No |
ClinGen TOPMed |
|
|
COSM1264945 rs142754469 CA10359984 |
346 | A>T | oesophagus [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA10359983 rs748191226 |
348 | G>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA412355487 rs1455025341 |
350 | C>R | No |
ClinGen TOPMed gnomAD |
|
|
CA10359981 rs375653882 |
351 | K>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs750764782 CA412354974 |
358 | C>F | No |
ClinGen ExAC gnomAD |
|
|
rs750764782 CA10359962 |
358 | C>S | No |
ClinGen ExAC gnomAD |
|
|
rs1475761234 CA412354965 |
359 | V>F | No |
ClinGen gnomAD |
|
|
CA412354958 rs1428153372 |
359 | V>G | No |
ClinGen TOPMed |
|
| TCGA novel | 359 | V>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1243889445 CA412354889 |
364 | H>R | No |
ClinGen gnomAD |
|
|
rs1191368415 CA412354868 |
366 | N>D | No |
ClinGen gnomAD |
|
|
CA412354839 rs1371700171 |
367 | F>L | No |
ClinGen TOPMed |
|
|
CA412354789 rs1445053255 |
373 | P>L | No |
ClinGen TOPMed |
|
|
rs765570208 CA10359961 |
373 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs560826066 CA326976521 |
374 | K>R | No |
ClinGen Ensembl |
|
|
CA412354768 rs1225104460 |
376 | I>M | No |
ClinGen gnomAD |
|
|
rs754326831 CA10359959 |
377 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs764202802 CA10359958 |
381 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA412354696 rs1228987621 |
387 | P>R | No |
ClinGen TOPMed |
|
|
rs769630075 CA10359952 |
393 | R>C | No |
ClinGen ExAC |
|
|
rs1422464655 CA412354645 |
394 | R>Q | No |
ClinGen gnomAD |
|
|
CA10359951 rs777244990 |
394 | R>W | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1364918312 CA412354641 |
395 | I>V | No |
ClinGen gnomAD |
|
|
rs1340314053 CA412354554 |
401 | D>G | No |
ClinGen TOPMed |
|
|
CA10359950 rs781254417 |
402 | C>G | No |
ClinGen ExAC gnomAD |
|
|
CA10359949 rs768323466 |
406 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA412354447 rs1311956710 |
409 | V>A | No |
ClinGen gnomAD |
|
|
CA326976467 rs369745864 |
413 | L>V | No |
ClinGen ESP TOPMed |
|
|
rs779557253 CA10359947 |
415 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10359948 rs746550623 |
415 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10359946 rs757989748 |
424 | T>A | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 424 | T>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA412354083 rs1310762442 |
432 | H>N | No |
ClinGen TOPMed |
|
|
CA412354069 rs1221369737 |
432 | H>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1246420926 CA412354050 |
434 | I>N | No |
ClinGen TOPMed |
|
|
rs768727257 CA10359926 |
434 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA412353987 rs1255652590 |
443 | S>A | No |
ClinGen gnomAD |
|
|
CA412353970 rs1297492863 |
445 | A>V | No |
ClinGen gnomAD |
|
|
rs1009108864 CA326975881 |
451 | N>T | No |
ClinGen Ensembl |
|
|
CA412353924 rs1482012973 |
452 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA10359922 rs745552960 |
452 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs778592411 CA10359921 |
452 | F>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs749673085 CA10359919 |
457 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs201570126 CA10359920 |
457 | Q>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs778056009 CA10359918 |
459 | D>Y | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 460 | N>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs756621779 CA10359917 |
463 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA412353808 rs1421209289 |
468 | S>R | No |
ClinGen gnomAD |
|
|
CA412353803 rs1406201962 |
469 | S>F | No |
ClinGen gnomAD |
|
| TCGA novel | 471 | R>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 471 | R>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1201163130 CA412353787 |
472 | G>S | No |
ClinGen gnomAD |
|
|
rs767555341 CA10359915 |
472 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA412353780 rs1260901612 |
473 | H>Y | No |
ClinGen gnomAD |
|
|
CA412353765 rs1481292900 |
475 | H>R | No |
ClinGen TOPMed |
|
|
rs755063841 CA10359914 |
479 | E>A | No |
ClinGen ExAC gnomAD |
|
|
rs879008851 CA326975825 |
479 | E>D | No |
ClinGen Ensembl |
|
|
rs1412621362 CA412353730 |
480 | H>R | No |
ClinGen TOPMed |
|
|
rs927402984 CA326971527 |
489 | D>V | No |
ClinGen TOPMed gnomAD |
|
|
CA412352334 rs1181246074 |
490 | V>G | No |
ClinGen gnomAD |
|
| TCGA novel | 492 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1261771614 CA412352224 |
496 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
rs771518877 CA10359905 |
498 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10359904 rs745411044 |
499 | S>Y | No |
ClinGen ExAC gnomAD |
|
|
CA412352147 rs1437938456 |
500 | P>S | No |
ClinGen TOPMed |
|
| TCGA novel | 503 | T>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA412352076 rs1361519127 |
504 | V>I | No |
ClinGen gnomAD |
|
|
rs748875565 CA10359901 |
506 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA412352000 rs1220021831 |
510 | L>F | No |
ClinGen TOPMed |
|
|
rs950155716 CA326971507 |
515 | P>S | No |
ClinGen Ensembl |
|
|
rs199782976 CA10359900 |
520 | Y>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA412351855 rs1384203940 |
521 | A>V | No |
ClinGen gnomAD |
|
| TCGA novel | 525 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA412351694 rs1326559651 |
529 | A>P | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 529 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA412351654 rs759330967 |
532 | S>I | No |
ClinGen ExAC gnomAD |
|
|
CA10359887 rs759330967 |
532 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs773920074 CA10359886 |
533 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA412351644 rs1301661068 |
533 | A>V | No |
ClinGen gnomAD |
|
|
rs1386771539 CA412351636 |
534 | I>V | No |
ClinGen gnomAD |
|
|
CA10359885 rs368279905 |
535 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 536 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs762656137 CA10359884 |
537 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA412351549 rs1569135870 |
538 | E>G | No |
ClinGen Ensembl |
|
|
rs1346964794 CA412351386 |
546 | S>G | No |
ClinGen TOPMed |
|
|
rs1459980889 CA412351375 |
546 | S>T | No |
ClinGen gnomAD |
|
|
CA326970954 rs113539700 |
547 | S>P | No |
ClinGen Ensembl |
|
|
CA412351335 rs1422512820 |
549 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1328971244 CA412351295 |
551 | S>A | No |
ClinGen TOPMed |
|
|
rs1481206025 CA412351285 |
551 | S>L | No |
ClinGen gnomAD |
|
| TCGA novel | 554 | Y>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA412351201 rs1427024748 |
556 | N>Y | No |
ClinGen gnomAD |
|
|
CA10359882 rs770184096 |
557 | P>A | No |
ClinGen ExAC gnomAD |
|
|
COSM3844240 rs943639581 CA326970948 |
557 | P>L | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA412351148 rs1252520619 |
559 | C>Y | No |
ClinGen gnomAD |
|
|
CA10359881 rs748578619 |
560 | R>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA10359880 rs781364092 |
563 | M>R | No |
ClinGen ExAC gnomAD |
|
|
rs1051976687 CA326970937 |
563 | M>V | No |
ClinGen Ensembl |
|
| TCGA novel | 564 | Y>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs769221215 CA10359879 |
567 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA412350838 COSM1714702 rs1602071695 |
572 | D>N | skin [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs747463983 CA10359878 |
575 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1476210756 CA412350763 |
576 | S>G | No |
ClinGen gnomAD |
|
|
CA326970922 rs868809437 |
578 | P>S | No |
ClinGen Ensembl |
|
|
rs1181378790 CA412350628 |
584 | P>L | No |
ClinGen gnomAD |
|
|
CA412350638 rs1354306592 |
584 | P>T | No |
ClinGen TOPMed |
|
| TCGA novel | 585 | L>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA412350596 rs1281774656 |
587 | G>V | No |
ClinGen gnomAD |
|
| TCGA novel | 588 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10359877 rs780338232 |
591 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs758529340 CA10359876 |
594 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA412350485 rs1209263222 |
595 | P>L | No |
ClinGen TOPMed |
|
|
rs1470613103 CA412350445 |
598 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1309735806 CA412350399 |
600 | F>L | No |
ClinGen gnomAD |
|
|
rs750714159 CA10359875 |
604 | R>K | No |
ClinGen ExAC gnomAD |
|
|
rs1490882697 CA412350287 |
606 | S>N | No |
ClinGen TOPMed |
|
|
rs779304287 CA10359874 |
607 | E>K | No |
ClinGen ExAC TOPMed |
|
|
rs745720826 CA326969828 |
608 | A>G | No |
ClinGen Ensembl |
|
| TCGA novel | 609 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA412349334 rs1351900004 |
612 | I>T | No |
ClinGen gnomAD |
|
|
rs768888311 CA10359859 |
618 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA412349195 rs1602068983 |
622 | Q>H | No |
ClinGen Ensembl |
|
|
CA326969777 rs61751427 |
629 | S>P | No |
ClinGen Ensembl |
|
|
rs1043920853 CA326969776 |
630 | T>A | No |
ClinGen Ensembl |
|
| TCGA novel | 632 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 637 | I>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA412348997 rs1262882884 |
637 | I>T | No |
ClinGen TOPMed |
|
|
rs776108971 CA10359854 |
641 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA10359852 rs772663129 |
643 | T>K | No |
ClinGen ExAC |
|
|
CA412348912 rs1478381870 |
646 | Q>* | No |
ClinGen TOPMed |
|
|
rs779075189 CA10359850 |
647 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA412348864 rs1419029095 |
650 | P>S | No |
ClinGen gnomAD |
|
|
rs1196327432 CA412348839 COSM1264947 |
652 | A>T | oesophagus [Cosmic] | No |
ClinGen cosmic curated TOPMed |
| TCGA novel | 653 | D>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA326969753 rs376375521 |
653 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ESP NCI-TCGA TOPMed gnomAD |
|
rs1184315819 CA412348801 |
654 | L>R | No |
ClinGen gnomAD |
|
|
rs745937223 CA412348105 |
666 | F>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs200260668 CA10359837 |
666 | F>Y | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 669 | K>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 669 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10359834 rs746307395 |
669 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA412347971 rs1332204623 |
673 | M>I | No |
ClinGen TOPMed |
|
|
rs770905698 CA10359832 |
676 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749577518 CA10359831 |
684 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA412347720 rs1569134252 |
687 | L>M | No |
ClinGen Ensembl |
|
|
CA326969382 rs906578755 |
690 | Y>H | No |
ClinGen Ensembl |
|
|
CA10359830 rs777830526 |
696 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs756324398 CA10359829 |
698 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA412347438 rs1327816164 |
699 | Y>* | No |
ClinGen gnomAD |
|
|
CA412347455 rs1288536878 |
699 | Y>H | No |
ClinGen TOPMed gnomAD |
|
|
rs746829529 CA10359828 |
700 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs78642840 CA326969365 |
700 | S>R | No |
ClinGen Ensembl |
|
|
rs79231433 CA326969344 |
701 | S>L | No |
ClinGen gnomAD |
No associated diseases with Q9UQR0
No regional properties for Q9UQR0
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| No domain, repeats, and functional sites for Q9UQR0 | |||
2 GO annotations of cellular component
| Name | Definition |
|---|---|
| nucleus | A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent. |
| PcG protein complex | A chromatin-associated multiprotein complex containing Polycomb Group proteins. In Drosophila, Polycomb group proteins are involved in the long-term maintenance of gene repression, and PcG protein complexes associate with Polycomb group response elements (PREs) in target genes to regulate higher-order chromatin structure. |
2 GO annotations of molecular function
| Name | Definition |
|---|---|
| chromatin binding | Binding to chromatin, the network of fibers of DNA, protein, and sometimes RNA, that make up the chromosomes of the eukaryotic nucleus during interphase. |
| histone binding | Binding to a histone, any of a group of water-soluble proteins found in association with the DNA of eukaryotic or archaeal chromosomes. They are involved in the condensation and coiling of chromosomes during cell division and have also been implicated in gene regulation and DNA replication. They may be chemically modified (methylated, acetlyated and others) to regulate gene transcription. |
2 GO annotations of biological process
| Name | Definition |
|---|---|
| anatomical structure morphogenesis | The process in which anatomical structures are generated and organized. Morphogenesis pertains to the creation of form. |
| negative regulation of DNA-templated transcription | Any process that stops, prevents, or reduces the frequency, rate or extent of cellular DNA-templated transcription. |
10 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q969R5 | L3MBTL2 | Lethal(3)malignant brain tumor-like protein 2 | Homo sapiens (Human) | PR |
| Q96GD3 | SCMH1 | Polycomb protein SCMH1 | Homo sapiens (Human) | PR |
| Q9Y468 | L3MBTL1 | Lethal(3)malignant brain tumor-like protein 1 | Homo sapiens (Human) | PR |
| Q96JM7 | L3MBTL3 | Lethal(3)malignant brain tumor-like protein 3 | Homo sapiens (Human) | PR |
| Q9UHJ3 | SFMBT1 | Scm-like with four MBT domains protein 1 | Homo sapiens (Human) | PR |
| Q8BLB7 | L3mbtl3 | Lethal(3)malignant brain tumor-like protein 3 | Mus musculus (Mouse) | PR |
| A2A5N8 | L3mbtl1 | Lethal(3)malignant brain tumor-like protein 1 | Mus musculus (Mouse) | PR |
| Q9JMD1 | Sfmbt1 | Scm-like with four MBT domains protein 1 | Mus musculus (Mouse) | PR |
| Q9JMD2 | Sfmbt1 | Scm-like with four MBT domains protein 1 | Rattus norvegicus (Rat) | PR |
| B2D6M2 | lin-61 | Protein lin-61 | Caenorhabditis elegans | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MGQTVNEDSM | DVKKENQEKT | PQSSTSSVQR | DDFHWEEYLK | ETGSISAPSE | CFRQSQIPPV |
| 70 | 80 | 90 | 100 | 110 | 120 |
| NDFKVGMKLE | ARDPRNATSV | CIATVIGITG | ARLRLRLDGS | DNRNDFWRLV | DSPDIQPVGT |
| 130 | 140 | 150 | 160 | 170 | 180 |
| CEKEGDLLQP | PLGYQMNTSS | WPMFLLKTLN | GSEMASATLF | KKEPPKPPLN | NFKVGMKLEA |
| 190 | 200 | 210 | 220 | 230 | 240 |
| IDKKNPYLIC | PATIGDVKGD | EVHITFDGWS | GAFDYWCKYD | SRDIFPAGWC | RLTGDVLQPP |
| 250 | 260 | 270 | 280 | 290 | 300 |
| GTSVPIVKNI | AKTESSPSEA | SQHSMQSPQK | TTLILPTQQV | RRSSRIKPPG | PTAVPKRSSS |
| 310 | 320 | 330 | 340 | 350 | 360 |
| VKNITPRKKG | PNSGKKEKPL | PVICSTSAAS | LKSLTRDRGM | LYKDVASGPC | KIVMSTVCVY |
| 370 | 380 | 390 | 400 | 410 | 420 |
| VNKHGNFGPH | LDPKRIQQLP | DHFGPGPVNV | VLRRIVQACV | DCALETKTVF | GYLKPDNRGG |
| 430 | 440 | 450 | 460 | 470 | 480 |
| EVITASFDGE | THSIQLPPVN | SASFALRFLE | NFCHSLQCDN | LLSSQPFSSS | RGHTHSSAEH |
| 490 | 500 | 510 | 520 | 530 | 540 |
| DKNQSAKEDV | TERQSTKRSP | QQTVPYVVPL | SPKLPKTKEY | ASEGEPLFAG | GSAIPKEENL |
| 550 | 560 | 570 | 580 | 590 | 600 |
| SEDSKSSSLN | SGNYLNPACR | NPMYIHTSVS | QDFSRSVPGT | TSSPLVGDIS | PKSSPHEVKF |
| 610 | 620 | 630 | 640 | 650 | 660 |
| QMQRKSEAPS | YIAVPDPSVL | KQGFSKDPST | WSVDEVIQFM | KHTDPQISGP | LADLFRQHEI |
| 670 | 680 | 690 | |||
| DGKALFLLKS | DVMMKYMGLK | LGPALKLCYY | IEKLKEGKYS |