Q92925
PR
Gene name |
SMARCD2 (BAF60B, PRO2451) |
Protein name |
SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily D member 2 |
Names |
60 kDa BRG-1/Brm-associated factor subunit B, BRG1-associated factor 60B, BAF60B |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:6603 |
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
1 structures for Q92925
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q92925-F1 | Predicted | AlphaFoldDB |
365 variants for Q92925
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
RCV000766170 rs1379892630 RCV002249455 |
32 | A>missing | Specific granule deficiency 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA8706564 RCV000996594 RCV002550697 rs756475062 |
45 | P>L | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA16040622 RCV000490559 rs1555580263 RCV000415478 |
147 | Q>E | Specific granule deficiency 2 Specific granule deficiency 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA8706230 rs201042716 RCV002539524 RCV001303432 |
444 | I>T | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs972909853 CA400602411 |
2 | S>A | No |
ClinGen TOPMed gnomAD |
|
|
CA292957803 rs972909853 |
2 | S>P | No |
ClinGen TOPMed gnomAD |
|
|
CA400602403 rs1598361998 |
3 | G>A | No |
ClinGen Ensembl |
|
|
CA400602404 rs1598361998 |
3 | G>D | No |
ClinGen Ensembl |
|
|
CA400602400 rs1251719291 |
4 | R>* | No |
ClinGen gnomAD |
|
| TCGA novel | 4 | R>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA292957795 rs933609478 |
5 | G>D | No |
ClinGen Ensembl |
|
|
rs750297066 CA8706566 |
5 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs961564802 CA292957794 |
6 | A>V | No |
ClinGen TOPMed |
|
|
CA400602362 rs1226832343 |
10 | P>L | No |
ClinGen TOPMed |
|
|
CA292957793 rs928769045 |
12 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA400602356 rs928769045 |
12 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1215921454 CA400602350 |
13 | P>A | No |
ClinGen TOPMed |
|
|
rs1598361978 CA400602347 |
13 | P>R | No |
ClinGen Ensembl |
|
|
CA400602344 rs1367715000 |
14 | L>V | No |
ClinGen gnomAD |
|
|
CA400602337 rs1285282670 |
15 | S>N | No |
ClinGen TOPMed |
|
|
rs981728065 CA292957792 |
16 | P>R | No |
ClinGen TOPMed |
|
|
CA400602308 rs1275386649 |
20 | A>T | No |
ClinGen gnomAD |
|
|
CA400602303 rs1472305931 |
21 | V>M | No |
ClinGen TOPMed |
|
|
CA8706565 rs547749828 |
24 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA400602259 rs1310379703 |
28 | P>L | No |
ClinGen gnomAD |
|
|
CA400602250 rs1157492539 |
30 | P>A | No |
ClinGen TOPMed |
|
|
CA400602246 rs1195945923 |
30 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA400602241 rs1422051848 |
31 | P>R | No |
ClinGen TOPMed |
|
|
rs1299286381 CA400602228 |
33 | G>V | No |
ClinGen TOPMed |
|
|
rs1011894519 CA292957787 |
34 | P>H | No |
ClinGen TOPMed gnomAD |
|
|
CA400602222 rs1287655642 |
35 | G>S | No |
ClinGen gnomAD |
|
|
rs1222626467 CA400602193 |
39 | G>E | No |
ClinGen gnomAD |
|
|
CA400602196 rs1286199594 |
39 | G>R | No |
ClinGen TOPMed |
|
|
CA400602185 rs1289114980 |
40 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1355871352 CA400602173 |
42 | L>H | No |
ClinGen TOPMed |
|
|
CA400602159 rs1339828769 |
45 | P>S | No |
ClinGen gnomAD |
|
|
CA292957779 rs902395036 |
46 | G>A | No |
ClinGen TOPMed |
|
|
rs1008106624 CA292957775 |
47 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA400602148 rs1008106624 |
47 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1050208462 CA292957767 |
54 | P>L | No |
ClinGen TOPMed |
|
|
rs1405594852 CA400602085 |
57 | A>V | No |
ClinGen gnomAD |
|
|
CA400602062 rs1347742528 |
61 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA292957761 rs919907310 |
63 | G>S | No |
ClinGen TOPMed |
|
|
CA400602042 rs1336523577 |
64 | P>S | No |
ClinGen TOPMed |
|
|
CA400602035 rs1424759151 |
65 | A>G | No |
ClinGen gnomAD |
|
|
CA400602038 rs1321810212 |
65 | A>T | No |
ClinGen gnomAD |
|
|
CA8706544 rs767457054 |
73 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1230084202 CA400601806 |
74 | P>L | No |
ClinGen gnomAD |
|
|
rs1209187581 CA400601800 |
75 | G>V | No |
ClinGen TOPMed |
|
|
CA400601798 rs1327413343 |
76 | M>V | No |
ClinGen gnomAD |
|
|
rs1333878063 CA400601787 |
77 | S>* | No |
ClinGen gnomAD |
|
|
rs751640456 CA8706542 |
79 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA8706541 rs766896361 |
81 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8706540 rs763517750 |
83 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1050647569 CA292954848 |
84 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
rs773497604 CA8706539 |
86 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA400601716 rs1471186720 |
88 | Q>H | No |
ClinGen TOPMed |
|
|
rs765596204 CA8706538 |
88 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8706537 RCV001323420 rs761403199 |
92 | P>S | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
rs776373183 CA8706536 |
93 | A>P | No |
ClinGen ExAC |
|
|
rs776373183 CA292954824 |
93 | A>T | No |
ClinGen ExAC |
|
|
rs1186555578 CA400601683 |
94 | G>V | No |
ClinGen gnomAD |
|
|
rs765913102 CA8706535 |
96 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1567762963 CA400601644 |
101 | A>P | No |
ClinGen Ensembl |
|
|
CA8706533 rs774932788 |
102 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1211430074 CA400601636 |
102 | P>S | No |
ClinGen gnomAD |
|
|
CA400601630 rs1206893435 |
103 | L>P | No |
ClinGen gnomAD |
|
|
rs1339630793 CA400601626 |
104 | R>* | No |
ClinGen gnomAD |
|
|
rs778803525 CA8706531 |
104 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8706530 rs778803525 |
104 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA8706528 rs749078019 |
105 | P>H | No |
ClinGen ExAC gnomAD |
|
|
CA8706529 rs749078019 |
105 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA8706527 rs781454839 |
106 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA400601611 rs1294455766 |
107 | M>R | No |
ClinGen gnomAD |
|
|
rs1294455766 CA400601612 |
107 | M>T | No |
ClinGen gnomAD |
|
|
CA8706526 rs755212294 |
108 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA400601599 rs1279568814 |
109 | P>S | No |
ClinGen TOPMed |
|
|
rs751654320 CA8706525 |
111 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 112 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA400601578 rs371673950 |
112 | M>K | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA292954750 rs371673950 |
112 | M>T | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs762396735 CA292954745 |
113 | D>A | No |
ClinGen TOPMed gnomAD |
|
|
CA400601570 rs762396735 |
113 | D>V | No |
ClinGen TOPMed gnomAD |
|
|
rs780110258 CA8706522 |
116 | R>* | No |
ClinGen ExAC gnomAD |
|
|
rs1369921784 CA400601551 |
116 | R>Q | No |
ClinGen gnomAD |
|
|
CA292954742 rs777220558 |
118 | R>C | No |
ClinGen Ensembl |
|
|
CA400601538 rs1457142148 |
118 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1472201782 CA400601527 |
120 | L>H | No |
ClinGen gnomAD |
|
|
rs750947695 CA8706520 |
121 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA292954735 rs765542823 |
122 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765542823 CA8706519 |
122 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762130064 CA8706518 |
124 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA292954714 rs976922689 |
126 | P>L | No |
ClinGen TOPMed |
|
|
CA400601479 rs1191622382 |
128 | M>T | No |
ClinGen TOPMed |
|
|
rs1207640509 CA400601483 |
128 | M>V | No |
ClinGen gnomAD |
|
|
rs760252492 CA8706515 |
129 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8706516 rs763801115 |
129 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs775009662 CA8706514 |
130 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA400601462 rs1349148791 |
131 | Q>P | No |
ClinGen gnomAD |
|
|
CA292954688 rs966026576 |
132 | R>C | No |
ClinGen TOPMed |
|
|
rs771732575 CA8706513 |
132 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1411242310 CA400601452 |
133 | R>Q | No |
ClinGen TOPMed |
|
|
rs759507599 CA8706512 |
133 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs771041652 CA8706511 CA8706510 |
134 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs1326405475 CA400601419 |
137 | R>G | No |
ClinGen gnomAD |
|
|
rs1598359380 CA400601415 |
137 | R>K | No |
ClinGen Ensembl |
|
|
CA400601391 rs1409592803 |
140 | M>I | No |
ClinGen gnomAD |
|
|
rs1567762620 CA400601385 |
141 | A>V | No |
ClinGen Ensembl |
|
|
rs1193529307 CA400601357 |
145 | L>P | No |
ClinGen TOPMed |
|
|
rs1448496574 CA400601359 |
145 | L>V | No |
ClinGen TOPMed |
|
|
CA400601353 rs1386106190 |
146 | P>A | No |
ClinGen gnomAD |
|
|
rs1161229255 CA400601351 |
146 | P>R | No |
ClinGen gnomAD |
|
|
rs1401174565 CA400601349 |
147 | Q>K | No |
ClinGen gnomAD |
|
|
CA773998089 rs1057518732 |
147 | Q>R | No |
ClinGen Ensembl |
|
|
CA400601340 rs1423900007 |
148 | R>* | No |
ClinGen TOPMed gnomAD |
|
|
CA8706494 rs764382206 |
148 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA292954422 rs867997170 |
150 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA8706480 rs778971643 |
150 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA400601315 rs1273960797 |
151 | E>K | No |
ClinGen gnomAD |
|
|
CA400601256 rs1286439028 |
159 | Y>F | No |
ClinGen TOPMed gnomAD |
|
|
CA400601252 rs1297525838 |
160 | M>V | No |
ClinGen gnomAD |
|
|
CA8706476 rs756404684 |
161 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA400601220 rs1282372795 |
164 | A>G | No |
ClinGen gnomAD |
|
|
rs753161581 CA8706475 |
166 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA8706474 rs377674388 |
167 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs754743552 CA8706473 |
168 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA8706471 rs765818369 |
171 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8706470 rs762898379 |
175 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA8706469 rs773052349 |
175 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs776464912 CA292954308 |
177 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8706466 rs776464912 |
177 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8706467 rs761569474 |
177 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs184746026 CA8706465 |
178 | M>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA292954300 rs911372918 |
181 | Q>R | No |
ClinGen TOPMed |
|
| TCGA novel | 182 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1481778739 CA400601108 |
182 | E>K | No |
ClinGen gnomAD |
|
|
CA400601091 rs1252117176 |
184 | I>S | No |
ClinGen gnomAD |
|
|
CA292954298 rs950333861 |
184 | I>V | No |
ClinGen TOPMed |
|
|
rs746106621 CA8706464 |
185 | K>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs770950737 CA8706462 |
186 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
rs757290343 CA292954297 |
187 | P>A | No |
ClinGen Ensembl |
|
|
rs749426670 CA8706461 |
188 | L>Q | No |
ClinGen ExAC gnomAD |
|
|
rs766404109 CA292954287 |
189 | T>I | No |
ClinGen Ensembl |
|
|
rs372945061 CA8706437 |
191 | K>N | No |
ClinGen ESP ExAC gnomAD |
|
|
rs758123382 CA8706436 |
192 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs749892273 CA8706435 |
192 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA8706434 rs778502401 |
193 | K>T | No |
ClinGen ExAC gnomAD |
|
|
rs1203356331 CA400601018 |
195 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA8706433 rs369172358 |
195 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA400601005 rs1486792028 |
197 | Y>S | No |
ClinGen gnomAD |
|
|
rs753806790 CA8706432 |
198 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs201723860 CA400600977 |
201 | T>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA8706431 rs201723860 |
201 | T>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA292953448 rs199875010 |
207 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1364966466 CA400600928 |
208 | E>G | No |
ClinGen gnomAD |
|
|
CA400600918 rs773107708 |
210 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8706426 rs773107708 |
210 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 210 | D>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs773107708 CA400600917 |
210 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA292953417 rs1033472014 |
213 | G>* | No |
ClinGen Ensembl |
|
|
rs1464616157 CA400600869 |
217 | T>N | No |
ClinGen gnomAD |
|
|
CA8706424 rs762368090 |
218 | P>S | No |
ClinGen ExAC |
|
|
rs1214587983 CA400600854 |
220 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA400600850 rs1449053458 |
221 | T>P | No |
ClinGen TOPMed gnomAD |
|
|
rs769332634 CA8706422 |
222 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 225 | D>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA292953405 rs980191323 |
225 | D>N | No |
ClinGen Ensembl |
|
|
CA400600811 rs1488028889 |
227 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
CA8706420 rs780529781 |
229 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs1484418225 CA400600793 |
230 | W>* | No |
ClinGen gnomAD |
|
|
CA400600772 rs367946883 |
233 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA gnomAD |
|
CA8706418 rs369920338 |
233 | R>Q | No |
ClinGen ESP ExAC gnomAD |
|
|
CA400600762 rs1368497581 |
235 | E>K | No |
ClinGen TOPMed |
|
|
rs552962320 CA8706416 |
237 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs1265192980 CA400600700 |
242 | P>R | No |
ClinGen gnomAD |
|
|
CA292953097 rs759568547 |
243 | S>G | No |
ClinGen Ensembl |
|
|
CA400600694 rs1391773984 |
243 | S>N | No |
ClinGen Ensembl |
|
|
rs1428999097 CA400600639 |
250 | S>F | No |
ClinGen TOPMed |
|
|
CA400600593 rs1396998826 |
257 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA400600565 rs1459864773 |
261 | D>G | No |
ClinGen gnomAD |
|
|
rs1163919212 CA400600568 |
261 | D>N | No |
ClinGen gnomAD |
|
|
CA8706398 rs376614157 |
262 | K>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8706396 rs11558315 |
266 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA292953058 rs11558315 |
266 | G>W | No |
ClinGen ExAC gnomAD |
|
|
rs1130100 CA292953054 |
269 | N>D | No |
ClinGen gnomAD |
|
|
CA8706394 rs1130101 |
269 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA292952964 rs1130102 |
275 | H>Y | No |
ClinGen Ensembl |
|
|
rs946634005 CA292952954 |
276 | R>Q | No |
ClinGen gnomAD |
|
|
rs1130104 CA292952955 |
276 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
rs770506705 CA8706376 |
277 | M>L | No |
ClinGen ExAC gnomAD |
|
|
rs1303844032 CA400600436 |
279 | T>A | No |
ClinGen gnomAD |
|
|
rs769376262 CA8706373 |
281 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs564294951 CA292952902 |
290 | R>Q | No |
ClinGen gnomAD |
|
|
CA292952903 rs753722687 |
290 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1374271866 CA400600328 |
291 | P>S | No |
ClinGen gnomAD |
|
|
CA8706372 rs747651803 |
294 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs934778622 CA292952900 |
294 | L>V | No |
ClinGen Ensembl |
|
|
rs781165926 CA8706371 |
295 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs746791899 CA8706369 |
296 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1217064026 CA400600290 |
297 | K>R | No |
ClinGen gnomAD |
|
|
rs1184003416 CA400600273 |
299 | T>I | No |
ClinGen TOPMed |
|
|
rs1213344317 CA400600269 |
300 | L>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA400600247 rs1280861394 |
302 | L>F | No |
ClinGen gnomAD |
|
|
rs1237304397 CA400600225 |
304 | L>P | No |
ClinGen TOPMed |
|
| TCGA novel | 304 | L>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 305 | D>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8706366 rs754148448 |
305 | D>N | No |
ClinGen ExAC |
|
|
rs1005408481 CA292952786 |
312 | K>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA400599826 rs1416336818 |
312 | K>T | No |
ClinGen gnomAD |
|
|
CA400599821 rs768534738 |
313 | L>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA400599799 rs1249857785 |
316 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA8706342 rs781146536 |
316 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA292952771 rs904908475 |
319 | R>K | No |
ClinGen Ensembl |
|
|
rs766909904 CA8706339 |
323 | V>M | No |
ClinGen ExAC |
|
|
rs375769485 RCV001091885 CA8706336 |
324 | H>Q | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs750843720 CA8706337 |
324 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA400599745 rs1450725057 |
325 | T>M | No |
ClinGen TOPMed |
|
|
CA400599717 rs1305640240 |
330 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1598357659 CA400599711 |
331 | I>L | No |
ClinGen Ensembl |
|
|
CA400599698 rs1192229935 |
332 | M>I | No |
ClinGen TOPMed |
|
|
rs1221766080 CA400599704 |
332 | M>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1221766080 CA400599703 |
332 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1375060687 CA400599692 |
333 | Q>P | No |
ClinGen gnomAD |
|
|
CA292952751 rs949939077 |
334 | A>G | No |
ClinGen TOPMed |
|
| TCGA novel | 334 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1440642748 CA400599666 |
337 | L>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs895825903 CA292952748 |
339 | I>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1052285962 CA292952747 |
341 | H>Y | No |
ClinGen Ensembl |
|
|
rs1055696631 CA292952746 |
347 | G>R | No |
ClinGen TOPMed |
|
|
CA400599587 rs1168892247 |
348 | H>R | No |
ClinGen TOPMed |
|
|
rs1421176553 CA400599583 |
349 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA400599573 rs1453602133 |
350 | R>Q | No |
ClinGen gnomAD |
|
|
rs768070821 CA400599564 |
351 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8706334 rs776146760 |
351 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA400599561 rs1598357616 |
352 | Y>D | No |
ClinGen Ensembl |
|
| TCGA novel | 352 | Y>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 353 | I>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs760305177 CA8706332 |
353 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA292952726 rs900987046 |
354 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
CA8706330 rs772198549 |
357 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs147427461 CA8706328 |
357 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs147427461 CA8706327 |
357 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA8706329 rs147427461 |
357 | R>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA8706326 rs748342764 |
360 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1442358232 CA400599506 |
360 | R>H | No |
ClinGen gnomAD |
|
|
rs1263344287 CA400599468 |
364 | S>G | No |
ClinGen gnomAD |
|
|
CA292952627 rs1025863088 |
367 | R>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs866391405 CA292952624 |
367 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA400599436 rs1259199282 |
369 | R>C | No |
ClinGen gnomAD |
|
|
CA292952621 rs749887215 |
369 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA8706298 rs755836175 |
372 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8706297 rs374021226 |
375 | M>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8706296 rs767157906 |
376 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
CA8706293 rs766387588 |
379 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA292952612 rs892114966 |
383 | H>R | No |
ClinGen gnomAD |
|
|
CA400599290 rs1395566838 |
387 | I>T | No |
ClinGen gnomAD |
|
|
rs1567760548 CA400599298 |
387 | I>V | No |
ClinGen Ensembl |
|
|
rs762640952 CA8706292 |
388 | V>F | No |
ClinGen ExAC gnomAD |
|
|
CA400599278 rs1343546536 |
388 | V>G | No |
ClinGen TOPMed |
|
|
rs1264208611 CA400599273 |
389 | I>V | No |
ClinGen TOPMed |
|
|
CA400599222 rs1252946800 |
392 | V>A | No |
ClinGen TOPMed |
|
|
rs1252946800 CA400599220 |
392 | V>G | No |
ClinGen TOPMed |
|
| TCGA novel | 393 | I>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs747242024 CA8706289 |
393 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1419340923 CA400599196 |
394 | S>T | No |
ClinGen gnomAD |
|
|
rs759533186 CA292952475 |
396 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759533186 CA8706267 |
396 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs774496865 CA8706266 |
397 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA8706263 rs778243479 |
399 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA400599087 rs778243479 |
399 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
rs368597638 CA8706262 |
402 | K>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs748931861 | 402 | K>missing | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA773994575 rs1361792176 |
406 | Y>* | No |
ClinGen TOPMed |
|
|
rs182816174 CA400598975 |
406 | Y>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA400598972 rs1199299423 |
407 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA292952425 rs969122171 |
409 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA400598930 rs1394914316 |
410 | V>M | No |
ClinGen gnomAD |
|
|
rs1598357222 CA400598912 |
411 | E>G | No |
ClinGen Ensembl |
|
|
CA400598877 rs1455805000 |
414 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
| TCGA novel | 419 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 420 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs750967488 CA8706257 |
421 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs1383027355 CA400598753 |
424 | L>V | No |
ClinGen TOPMed |
|
| TCGA novel | 424 | L>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1193038758 CA400598731 |
426 | S>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1445382830 CA400598707 |
428 | T>S | No |
ClinGen gnomAD |
|
|
rs199587799 CA8706256 |
429 | N>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs750388563 CA8706254 |
434 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA8706253 rs765196763 |
436 | L>R | No |
ClinGen ExAC |
|
|
CA400598600 rs1369396331 |
437 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA400598568 rs1598357190 |
439 | K>R | No |
ClinGen Ensembl |
|
|
rs778820291 CA8706232 |
440 | I>L | No |
ClinGen ExAC gnomAD |
|
|
rs199894904 CA292952340 |
440 | I>M | No |
ClinGen Ensembl |
|
|
CA8706231 rs757193839 |
441 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA400598491 rs1231973394 |
442 | E>G | No |
ClinGen TOPMed |
|
| TCGA novel | 446 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA292952331 rs951065544 |
447 | I>V | No |
ClinGen TOPMed |
|
|
rs755115875 CA400598412 CA8706228 |
448 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA400598408 rs1183863111 |
449 | Q>E | No |
ClinGen gnomAD |
|
|
rs141743070 CA400598400 |
449 | Q>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA400598322 rs1203560988 |
455 | D>G | No |
ClinGen gnomAD |
|
|
CA400598331 rs1432004446 |
455 | D>N | No |
ClinGen TOPMed |
|
| TCGA novel | 455 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs763113762 CA8706225 |
457 | M>L | No |
ClinGen ExAC gnomAD |
|
|
rs776812380 CA8706222 |
459 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8706220 rs769092314 |
459 | S>N | No |
ClinGen ExAC |
|
|
rs776812380 CA8706221 |
459 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1333570229 CA400598236 |
462 | T>A | No |
ClinGen gnomAD |
|
|
CA292952275 rs959898303 |
462 | T>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs771767861 CA8706217 |
463 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs775183361 CA8706218 |
463 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs745319515 CA8706216 |
464 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA8706215 rs778411389 |
466 | D>V | No |
ClinGen ExAC gnomAD |
|
|
rs1461354799 CA400598152 |
468 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
CA400598144 rs1392442807 |
469 | Q>P | No |
ClinGen gnomAD |
|
|
rs1401513331 CA400598135 |
470 | E>K | No |
ClinGen gnomAD |
|
|
CA8706214 rs757140754 |
473 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs749258964 CA8706213 |
473 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA8706212 rs777611849 |
476 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs369954156 CA8706211 |
476 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1567760022 CA400598048 |
477 | R>* | No |
ClinGen Ensembl |
|
|
rs766616758 CA400598043 |
477 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766616758 CA8706209 |
477 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8706208 rs758696277 |
480 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs767901514 CA8706182 |
484 | D>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8706183 rs753060205 |
484 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA8706181 RCV000889772 rs1130111 |
486 | I>T | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA400597886 rs1433576217 |
488 | N>D | No |
ClinGen TOPMed gnomAD |
|
|
CA8706180 rs773974121 |
488 | N>S | No |
ClinGen ExAC |
|
|
rs1260530840 CA400597872 |
489 | P>S | No |
ClinGen gnomAD |
|
|
CA8706179 rs763225339 |
490 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs1489101718 CA400597862 |
490 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA400597822 rs1567759892 |
493 | R>T | No |
ClinGen Ensembl |
|
|
rs762523727 CA8706177 |
494 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
| TCGA novel | 495 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs965303391 CA292952151 |
496 | A>G | No |
ClinGen gnomAD |
|
|
rs965303391 CA400597788 |
496 | A>V | No |
ClinGen gnomAD |
|
|
CA400597776 rs1307287893 |
497 | F>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA8706176 rs772599433 |
499 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA400597723 rs1312315381 |
501 | P>L | No |
ClinGen gnomAD |
|
|
CA400597710 rs1413043312 |
502 | W>* | No |
ClinGen gnomAD |
|
|
CA8706175 rs769711762 |
503 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs942313389 CA292952145 |
504 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1389802089 CA400597661 |
506 | A>G | No |
ClinGen Ensembl |
|
|
CA400597649 rs1350127297 |
507 | V>A | No |
ClinGen Ensembl |
|
|
rs1384875296 CA400597631 |
509 | R>K | No |
ClinGen TOPMed |
|
|
CA8706173 rs781090553 |
511 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 512 | F>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA400597566 rs1168338705 |
514 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
CA400597529 rs1418971613 |
515 | V>M | No |
ClinGen gnomAD |
|
|
rs761422612 CA400597514 |
516 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8706155 rs761422612 |
516 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1458500804 CA400597500 |
517 | Q>* | No |
ClinGen gnomAD |
|
|
rs79899871 CA292952088 |
518 | R>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA8706154 rs776686551 |
518 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA400597483 rs1208278176 |
519 | R>G | No |
ClinGen gnomAD |
|
|
CA8706153 rs768770584 |
520 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs866460877 CA292952085 |
521 | E>* | No |
ClinGen Ensembl |
|
|
rs1266080633 CA400597438 |
523 | E>K | No |
ClinGen gnomAD |
|
|
CA400597424 rs1321036594 |
524 | Q>K | No |
ClinGen TOPMed |
|
|
CA292952079 rs927147384 |
527 | G>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1376000217 CA400597386 |
527 | G>R | No |
ClinGen gnomAD |
|
|
CA8706151 rs746794019 |
528 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs191015799 CA292952078 |
529 | R>H | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs1392479427 CA400597346 |
531 | T>I | No |
ClinGen gnomAD |
No associated diseases with Q92925
No regional properties for Q92925
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| No domain, repeats, and functional sites for Q92925 | |||
10 GO annotations of cellular component
| Name | Definition |
|---|---|
| bBAF complex | A brain-specific SWI/SNF-type complex that contains eight or nine proteins, including both conserved (core) and nonconserved components; contains the ATPase product of either the SMARCA4/BAF190A/BRG1 gene, the mammalian ortholog of the yeast SNF2 gene, or the SMARCA2/BAF190B/BRM gene, the mammalian ortholog of the Drosophila brm (brahma) gene, or an ortholog of either of these genes. Compared to the neuron-specific nBAF complex (GO:0071565) it does not contain DPF1, DPF3 or SMARCC1 or their orthologs. May contain PB1/BAF180. |
| brahma complex | A SWI/SNF-type complex that contains 8 to 14 proteins, including both conserved (core) and nonconserved components; contains the ATPase product of the Drosophila brm (brahma) or mammalian SMARCA2/BAF190B/BRM gene, or an ortholog thereof. |
| chromatin | The ordered and organized complex of DNA, protein, and sometimes RNA, that forms the chromosome. |
| kinetochore | A multisubunit complex that is located at the centromeric region of DNA and provides an attachment point for the spindle microtubules. |
| nuclear matrix | The dense fibrillar network lying on the inner side of the nuclear membrane. |
| nucleoplasm | That part of the nuclear content other than the chromosomes or the nucleolus. |
| 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. |
| protein-containing complex | A stable assembly of two or more macromolecules, i.e. proteins, nucleic acids, carbohydrates or lipids, in which at least one component is a protein and the constituent parts function together. |
| RSC-type complex | A SWI/SNF-type complex that contains a bromodomain containing-protein, such as yeast Rsc1 or Rsc4 or mammalian PB1/BAF180. The RSC complex is generally recruited to RNA polymerase III promoters and is specifically recruited to RNA polymerase II promoters by transcriptional activators and repressors; it is also involved in non-homologous end joining. |
| SWI/SNF complex | A SWI/SNF-type complex that contains 8 to 14 proteins, including both conserved (core) and nonconserved components; contains the ATPase product of the yeast SNF2 or mammalian SMARCA4/BAF190A/BRG1 gene, or an ortholog thereof. |
2 GO annotations of molecular function
| Name | Definition |
|---|---|
| transcription coactivator activity | A transcription coregulator activity that activates or increases the transcription of specific gene sets via binding to a DNA-bound DNA-binding transcription factor, either on its own or as part of a complex. Coactivators often act by altering chromatin structure and modifications. For example, one class of transcription coactivators modifies chromatin structure through covalent modification of histones. A second class remodels the conformation of chromatin in an ATP-dependent fashion. A third class modulates interactions of DNA-bound DNA-binding transcription factors with other transcription coregulators. A fourth class of coactivator activity is the bridging of a DNA-binding transcription factor to the general (basal) transcription machinery. The Mediator complex, which bridges sequence-specific DNA binding transcription factors and RNA polymerase, is also a transcription coactivator. |
| transcription coregulator activity | A transcription regulator activity that modulates the transcription of specific gene sets via binding to a DNA-bound DNA-binding transcription factor, either on its own or as part of a complex. Coregulators often act by altering chromatin structure and modifications. For example, one class of transcription coregulators modifies chromatin structure through covalent modification of histones. A second class remodels the conformation of chromatin in an ATP-dependent fashion. A third class modulates interactions of DNA-bound DNA-binding transcription factors with other transcription coregulators. |
11 GO annotations of biological process
| Name | Definition |
|---|---|
| chromatin remodeling | A dynamic process of chromatin reorganization resulting in changes to chromatin structure. These changes allow DNA metabolic processes such as transcriptional regulation, DNA recombination, DNA repair, and DNA replication. |
| nucleosome disassembly | The controlled breakdown of nucleosomes, the beadlike structural units of eukaryotic chromatin composed of histones and DNA. |
| positive regulation of cell differentiation | Any process that activates or increases the frequency, rate or extent of cell differentiation. |
| positive regulation of double-strand break repair | Any process that activates or increases the frequency, rate or extent of double-strand break repair. |
| positive regulation of myoblast differentiation | Any process that activates or increases the frequency, rate or extent of myoblast differentiation. A myoblast is a mononucleate cell type that, by fusion with other myoblasts, gives rise to the myotubes that eventually develop into skeletal muscle fibers. |
| positive regulation of T cell differentiation | Any process that activates or increases the frequency, rate or extent of T cell differentiation. |
| regulation of G0 to G1 transition | A cell cycle process that modulates the rate or extent of the transition from the G0 quiescent state to the G1 phase. |
| regulation of G1/S transition of mitotic cell cycle | Any signalling pathway that modulates the activity of a cell cycle cyclin-dependent protein kinase to modulate the switch from G1 phase to S phase of the mitotic cell cycle. |
| regulation of mitotic metaphase/anaphase transition | Any process that modulates the frequency, rate or extent of the cell cycle process in which a cell progresses from metaphase to anaphase during mitosis, triggered by the activation of the anaphase promoting complex by Cdc20/Sleepy homolog which results in the degradation of Securin. |
| regulation of nucleotide-excision repair | Any process that modulates the frequency, rate or extent of nucleotide-excision repair. |
| regulation of transcription by RNA polymerase II | Any process that modulates the frequency, rate or extent of transcription mediated by RNA polymerase II. |
9 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q2TBN1 | SMARCD1 | SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily D member 1 | Bos taurus (Bovine) | PR |
| E1BJD1 | SMARCD2 | SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily D member 2 | Bos taurus (Bovine) | PR |
| Q9VYG2 | Bap60 | Brahma-associated protein of 60 kDa | Drosophila melanogaster (Fruit fly) | PR |
| Q6STE5 | SMARCD3 | SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily D member 3 | Homo sapiens (Human) | PR |
| Q96GM5 | SMARCD1 | SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily D member 1 | Homo sapiens (Human) | PR |
| Q61466 | Smarcd1 | SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily D member 1 | Mus musculus (Mouse) | PR |
| Q6P9Z1 | Smarcd3 | SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily D member 3 | Mus musculus (Mouse) | PR |
| Q99JR8 | Smarcd2 | SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily D member 2 | Mus musculus (Mouse) | PR |
| O54772 | Smarcd2 | SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily D member 2 | Rattus norvegicus (Rat) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MSGRGAGGFP | LPPLSPGGGA | VAAALGAPPP | PAGPGMLPGP | ALRGPGPAGG | VGGPGAAAFR |
| 70 | 80 | 90 | 100 | 110 | 120 |
| PMGPAGPAAQ | YQRPGMSPGN | RMPMAGLQVG | PPAGSPFGAA | APLRPGMPPT | MMDPFRKRLL |
| 130 | 140 | 150 | 160 | 170 | 180 |
| VPQAQPPMPA | QRRGLKRRKM | ADKVLPQRIR | ELVPESQAYM | DLLAFERKLD | QTIARKRMEI |
| 190 | 200 | 210 | 220 | 230 | 240 |
| QEAIKKPLTQ | KRKLRIYISN | TFSPSKAEGD | SAGTAGTPGG | TPAGDKVASW | ELRVEGKLLD |
| 250 | 260 | 270 | 280 | 290 | 300 |
| DPSKQKRKFS | SFFKSLVIEL | DKELYGPDNH | LVEWHRMPTT | QETDGFQVKR | PGDLNVKCTL |
| 310 | 320 | 330 | 340 | 350 | 360 |
| LLMLDHQPPQ | YKLDPRLARL | LGVHTQTRAA | IMQALWLYIK | HNQLQDGHER | EYINCNRYFR |
| 370 | 380 | 390 | 400 | 410 | 420 |
| QIFSCGRLRF | SEIPMKLAGL | LQHPDPIVIN | HVISVDPNDQ | KKTACYDIDV | EVDDPLKAQM |
| 430 | 440 | 450 | 460 | 470 | 480 |
| SNFLASTTNQ | QEIASLDVKI | HETIESINQL | KTQRDFMLSF | STDPQDFIQE | WLRSQRRDLK |
| 490 | 500 | 510 | 520 | 530 | |
| IITDVIGNPE | EERRAAFYHQ | PWAQEAVGRH | IFAKVQQRRQ | ELEQVLGIRL | T |