P28370
SS
Gene name |
SMARCA1 (SNF2L, SNF2L1) |
Protein name |
Probable global transcription activator SNF2L1 |
Names |
EC 3.6.4.- , ATP-dependent helicase SMARCA1 , Nucleosome-remodeling factor subunit SNF2L , SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A member 1 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:6594 |
EC number |
3.6.4.-: Acting on ATP; involved in cellular and subcellular movement |
Protein Class |
|
Descriptions
SMARCA5 (SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A member 5, SNF2h) is a helicase that possesses intrinsic ATP-dependent nucleosome-remodeling activity and a catalytic subunit of ISWI chromatin-remodeling complexes, which form ordered nucleosome arrays on chromatin and facilitate access to DNA during DNA-templated processes such as DNA replication, transcription, and repair. <br>A highly conserved acidic patch formed by histones H2A and H2B of the nucleosome relieves the autoinhibition imposed by the AutoN and the NegC regions of the SMARCA5. In the autoinhibited state, AutoN and NegC hold the remodeler in an inactive state. The active state is promoted by AutoN and NegC binding near the acidic patch and by H4 tail binding to the ATPase domain. Thus, the acidic patch helps promote the translocation competent state of SMARCA5 by providing a binding site for NegC and AutoN.
Autoinhibitory domains (AIDs)
Target domain |
186-653 (Helicase domain) |
Relief mechanism |
Partner binding |
Assay |
|
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
1 structures for P28370
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-P28370-F1 | Predicted | AlphaFoldDB |
479 variants for P28370
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs753522260 RCV000996014 RCV002550686 CA10511872 |
39 | A>T | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs140388140 RCV000429049 RCV002524803 CA10511541 |
706 | R>C | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA10511390 rs769981337 RCV000623190 |
1018 | T>I | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000454288 rs1060499736 CA501238 |
3 | Q>* | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs778821029 CA10511894 |
3 | Q>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA414550174 rs1225461284 |
3 | Q>R | No |
ClinGen gnomAD |
|
|
CA10511893 rs757928067 |
6 | A>D | No |
ClinGen ExAC gnomAD |
|
|
rs764944837 CA10511891 |
7 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA10511890 rs754629514 |
9 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA414550140 rs754629514 |
9 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1411596183 CA414550136 |
9 | A>V | No |
ClinGen gnomAD |
|
|
rs766181221 CA10511888 |
10 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA10511889 rs753626650 |
10 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA414550130 rs1474334217 |
11 | T>A | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 13 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs773066012 CA10511886 |
16 | D>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764172039 CA10511885 |
17 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1438927415 CA414550083 |
18 | T>I | No |
ClinGen gnomAD |
|
|
rs1347625110 CA414550079 |
19 | A>D | No |
ClinGen gnomAD |
|
|
rs775717002 CA10511883 |
19 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs750745017 CA10511881 |
22 | V>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA10511882 rs750745017 |
22 | V>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1410358783 CA414550054 |
24 | I>L | No |
ClinGen TOPMed |
|
|
CA414550050 rs1223150204 |
24 | I>T | No |
ClinGen gnomAD |
|
|
CA10511880 rs776929542 |
25 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771263904 CA10511879 |
26 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA414550036 rs1290326654 |
26 | D>G | No |
ClinGen gnomAD |
|
|
rs747488090 CA10511878 |
27 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs747488090 CA414550032 |
27 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10511877 CA414550012 rs778380103 |
30 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10511875 rs781413349 |
31 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1408104729 CA414550006 |
31 | P>T | No |
ClinGen gnomAD |
|
|
rs1468968998 CA414549995 |
33 | T>A | No |
ClinGen gnomAD |
|
|
rs929181075 CA335065594 |
33 | T>I | No |
ClinGen Ensembl |
|
|
CA414549987 rs1347950318 |
34 | S>C | No |
ClinGen TOPMed gnomAD |
|
|
CA414549986 rs1347950318 |
34 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
rs766090302 CA10511871 |
39 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA414549951 rs1444474284 |
40 | A>T | No |
ClinGen gnomAD |
|
|
rs1264151285 CA414549942 |
41 | A>G | No |
ClinGen gnomAD |
|
|
rs1321701582 CA414549935 |
42 | A>G | No |
ClinGen gnomAD |
|
|
CA10511868 rs767398403 |
44 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA10511867 rs752043142 |
45 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs775594128 CA10511866 |
47 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10511863 rs376309253 |
48 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10511865 rs759684524 |
48 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA10511864 rs759684524 |
48 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1384636141 CA414549901 |
49 | A>T | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 51 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 53 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10511861 rs747337702 |
53 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs148910244 CA10511860 |
54 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10511859 rs772757052 |
55 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs910559216 CA335065543 |
57 | K>R | No |
ClinGen Ensembl |
|
|
rs769482189 CA10511831 |
59 | K>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10511830 rs745503701 |
60 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA414549803 rs1319638327 |
61 | V>D | No |
ClinGen gnomAD |
|
|
CA335063135 rs887009000 |
61 | V>F | No |
ClinGen gnomAD |
|
|
rs887009000 CA414549805 |
61 | V>I | No |
ClinGen gnomAD |
|
|
CA414549765 rs1297498060 |
67 | K>E | No |
ClinGen gnomAD |
|
|
CA10511828 rs756991372 |
67 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA10511827 rs751524428 |
68 | L>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777730590 CA10511826 |
72 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs865822912 CA335063134 |
75 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
| TCGA novel | 77 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10511825 rs758237287 |
77 | K>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 79 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10511824 rs754000297 |
79 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA414549670 rs1477642792 |
81 | P>T | No |
ClinGen gnomAD |
|
|
CA414549633 rs1303017517 |
86 | K>E | No |
ClinGen gnomAD |
|
|
CA414549586 rs1306775348 |
90 | D>G | No |
ClinGen gnomAD |
|
|
CA414549589 rs1486856847 |
90 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA10511816 rs763343505 |
91 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1046738658 CA335062562 |
91 | R>Q | No |
ClinGen Ensembl |
|
|
rs775120225 CA10511815 |
93 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA414549564 rs1569450743 |
94 | R>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs1263811474 CA414549456 |
109 | I>V | No |
ClinGen TOPMed |
|
| TCGA novel | 110 | Q>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10511812 rs200726496 |
110 | Q>R | No |
ClinGen 1000Genomes ExAC |
|
| TCGA novel | 116 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10511811 rs745536186 |
117 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776220682 CA10511810 |
118 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs746865848 CA10511808 |
123 | M>K | No |
ClinGen ExAC gnomAD |
|
|
CA10511809 rs770747983 |
123 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA414549358 rs1461791504 |
124 | K>T | No |
ClinGen gnomAD |
|
|
CA414549338 rs1178782625 |
127 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA10511807 rs777408449 |
127 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs1363265931 CA414549333 |
128 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 129 | R>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs758420112 CA10511806 |
129 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs748032194 CA10511805 |
131 | K>M | No |
ClinGen ExAC gnomAD |
|
|
rs1270722296 CA414549313 |
131 | K>N | No |
ClinGen TOPMed |
|
| TCGA novel | 131 | K>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA414549303 rs1421002841 |
133 | D>N | No |
ClinGen gnomAD |
|
|
CA335062476 rs929639720 |
136 | Q>H | No |
ClinGen Ensembl |
|
|
CA414549245 rs1433446324 |
140 | S>F | No |
ClinGen TOPMed |
|
|
CA335062460 rs749248352 |
142 | G>E | No |
ClinGen Ensembl |
|
|
rs776088860 CA10511792 |
146 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA414549180 rs1418467441 |
148 | R>L | No |
ClinGen gnomAD |
|
|
CA335062279 rs993794629 |
151 | Q>E | No |
ClinGen gnomAD |
|
|
rs1163152087 CA414549121 |
156 | E>V | No |
ClinGen TOPMed |
|
| TCGA novel | 157 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 158 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA414549084 rs1330914048 |
162 | R>Q | No |
ClinGen TOPMed |
|
|
rs770623410 CA10511791 |
162 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 163 | K>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 164 | T>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1242138359 CA414549069 |
164 | T>I | No |
ClinGen gnomAD |
|
|
CA10511790 rs746631989 |
170 | R>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 172 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10511789 rs370612874 |
173 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA414548966 rs1184872108 |
178 | V>L | No |
ClinGen gnomAD |
|
| TCGA novel | 182 | P>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 187 | Q>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1223901326 CA414548864 |
193 | W>L | No |
ClinGen gnomAD |
|
|
rs1247675981 CA414548852 |
195 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA414548803 rs1327221826 |
202 | V>I | No |
ClinGen gnomAD |
|
|
rs753408575 CA10511774 |
203 | N>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs750118125 CA10511752 |
219 | I>S | No |
ClinGen ExAC gnomAD |
|
|
rs750118125 CA10511753 |
219 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA335061013 rs879110549 |
219 | I>V | No |
ClinGen Ensembl |
|
|
rs1463766803 CA414548664 |
221 | L>M | No |
ClinGen gnomAD |
|
|
rs1176497124 CA414548606 |
229 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA414548602 rs1206501297 |
230 | N>D | No |
ClinGen TOPMed |
|
|
rs1261864231 CA414548579 |
233 | G>E | No |
ClinGen TOPMed |
|
|
CA10511749 rs774346213 |
236 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA10511748 rs768566024 |
237 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10511747 rs762986985 |
239 | V>G | No |
ClinGen ExAC gnomAD |
|
|
rs1602730720 CA414548520 |
242 | S>Y | No |
ClinGen Ensembl |
|
|
CA414548511 rs1196938853 |
244 | L>I | No |
ClinGen gnomAD |
|
|
rs1325954114 CA414548501 |
245 | H>P | No |
ClinGen gnomAD |
|
|
rs775508078 CA10511746 |
245 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
rs145954872 CA10511745 |
246 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10511744 rs766999092 |
250 | E>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1444300431 CA414548439 |
253 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA414548428 rs1330458030 |
254 | W>C | No |
ClinGen gnomAD |
|
|
CA414548436 rs1336089874 |
254 | W>R | No |
ClinGen gnomAD |
|
|
CA414548419 rs1444369758 |
256 | P>S | No |
ClinGen gnomAD |
|
|
rs139344592 CA10511742 |
259 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs139344592 CA414548402 |
259 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA335060972 rs746082556 |
259 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10511741 rs746082556 |
259 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 260 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs779258095 CA10511740 |
265 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs755281078 CA10511739 |
265 | G>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1470815827 CA414548353 |
267 | K>Q | No |
ClinGen gnomAD |
|
|
CA414548307 rs1274082745 |
271 | A>V | No |
ClinGen TOPMed |
|
|
rs775395782 CA414548291 |
274 | I>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775395782 CA10511729 |
274 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10511728 rs139066770 RCV000930905 |
275 | R>C | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs146191618 CA10511727 |
275 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA335060017 rs899878258 |
276 | D>Y | No |
ClinGen Ensembl |
|
|
CA10511726 rs773236447 |
278 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs1360414128 CA414548248 |
280 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA10511724 rs748385281 |
283 | W>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772126819 CA10511725 |
283 | W>R | No |
ClinGen ExAC gnomAD |
|
|
CA10511723 rs774510399 |
286 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
rs143748983 CA10511721 |
287 | V>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs377177369 CA10511720 |
289 | S>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA414548175 rs1216555040 |
290 | Y>C | No |
ClinGen gnomAD |
|
| TCGA novel | 291 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1285200388 CA414548133 |
292 | M>I | No |
ClinGen gnomAD |
|
|
CA414548111 rs1214373491 |
294 | I>V | No |
ClinGen gnomAD |
|
|
rs1361248064 CA414548097 |
295 | K>Q | No |
ClinGen gnomAD |
|
|
CA10511718 rs746381520 |
296 | E>D | No |
ClinGen ExAC |
|
|
rs780571808 CA10511717 |
299 | V>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 300 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs751277009 CA10511715 |
301 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA10511714 rs763882020 |
304 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1339293084 CA414547723 |
318 | N>S | No |
ClinGen gnomAD |
|
|
CA335059987 rs964072317 |
319 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs1343707617 CA414547513 |
327 | V>G | No |
ClinGen TOPMed |
|
|
rs201008766 CA335059563 |
331 | K>N | No |
ClinGen 1000Genomes |
|
|
rs1275784696 CA414547433 |
332 | S>L | No |
ClinGen gnomAD |
|
|
rs770129426 CA10511702 |
335 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1346665772 CA414547393 |
335 | R>H | No |
ClinGen gnomAD |
|
| TCGA novel | 346 | N>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA414547208 rs1303908461 |
347 | L>R | No |
ClinGen TOPMed |
|
|
CA414547127 rs1365024124 |
352 | A>V | No |
ClinGen TOPMed |
|
|
rs1171312262 CA414547023 |
359 | P>S | No |
ClinGen gnomAD |
|
|
CA10511698 rs746568764 |
365 | A>E | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 368 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1465794250 CA414546657 |
373 | D>N | No |
ClinGen TOPMed |
|
|
CA414546609 rs1446577022 |
376 | N>D | No |
ClinGen gnomAD |
|
| TCGA novel | 376 | N>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA414546591 rs1398340137 |
377 | C>Y | No |
ClinGen gnomAD |
|
| TCGA novel | 381 | Q>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs764151385 CA10511687 |
381 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1382895301 CA414546498 |
383 | L>F | No |
ClinGen TOPMed |
|
|
rs763089712 CA10511686 |
383 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs966945196 CA335059288 |
384 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
CA414546458 rs1431389840 |
386 | R>G | No |
ClinGen gnomAD |
|
| TCGA novel | 392 | K>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs201127618 CA335090654 |
393 | P>L | No |
ClinGen Ensembl |
|
| TCGA novel | 394 | F>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA414548107 rs1455446162 |
395 | L>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA10511671 rs750290599 |
397 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA10511670 rs764171850 |
398 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1438784875 CA414548072 |
398 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA10511669 rs752892011 |
399 | I>L | No |
ClinGen ExAC gnomAD |
|
|
CA10511668 rs752892011 |
399 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1455128023 CA414548059 |
400 | K>E | No |
ClinGen TOPMed |
|
|
CA10511667 rs765535153 |
402 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA414547976 rs1424055860 |
406 | S>I | No |
ClinGen gnomAD |
|
| TCGA novel | 411 | K>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs995686721 CA335090619 |
413 | I>V | No |
ClinGen Ensembl |
|
| TCGA novel | 417 | L>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA414547826 rs1179578830 |
418 | G>E | No |
ClinGen gnomAD |
|
|
CA10511666 rs759665882 |
421 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs771354800 CA10511664 |
426 | W>G | No |
ClinGen ExAC gnomAD |
|
|
rs1254307894 CA414547655 |
428 | T>K | No |
ClinGen TOPMed |
|
|
CA335089870 rs938004877 |
432 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1247420855 CA414547606 |
435 | I>T | No |
ClinGen TOPMed |
|
|
CA10511654 rs755845490 |
436 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA414547514 rs1271730516 |
443 | K>T | No |
ClinGen gnomAD |
|
|
CA414547465 rs1356157727 |
447 | M>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1356157727 CA414547463 |
447 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
rs139253918 CA10511653 |
448 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1171695785 CA414547440 |
449 | L>V | No |
ClinGen TOPMed |
|
|
CA10511652 rs781065601 |
457 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
| TCGA novel | 461 | N>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1318644585 CA414547211 |
467 | D>G | No |
ClinGen gnomAD |
|
|
CA10511651 rs757109502 |
471 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA414547104 rs1398286132 |
476 | T>I | No |
ClinGen gnomAD |
|
|
CA10511650 rs752880574 |
477 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA414546906 rs1387124552 |
492 | D>G | No |
ClinGen gnomAD |
|
|
rs1325524267 CA414546912 |
492 | D>N | No |
ClinGen gnomAD |
|
|
CA10511649 rs765230006 |
493 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs1389766558 CA414546892 |
493 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
CA414546859 rs1363769860 |
498 | L>F | No |
ClinGen TOPMed |
|
|
CA414546807 rs1308523596 |
504 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
rs779064386 CA10511632 |
505 | V>I | No |
ClinGen ExAC |
|
|
CA10511631 rs754964822 |
506 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1173627243 CA414546789 |
507 | I>V | No |
ClinGen gnomAD |
|
| TCGA novel | 513 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1602705704 CA414546704 |
514 | L>S | No |
ClinGen Ensembl |
|
| TCGA novel | 516 | D>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA414546568 rs1376486792 |
523 | M>I | No |
ClinGen gnomAD |
|
| TCGA novel | 524 | W>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs146487129 CA10511629 |
525 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 528 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10511628 rs756385365 |
529 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs1197002199 CA414546467 |
531 | R>Q | No |
ClinGen gnomAD |
|
|
rs199943685 CA335089235 |
535 | Q>R | No |
ClinGen 1000Genomes |
|
|
CA335089203 rs946859680 |
537 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs983309958 CA335087007 |
555 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA414546230 rs1602698817 |
557 | I>V | No |
ClinGen Ensembl |
|
| TCGA novel | 558 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10511611 rs777534319 |
561 | N>H | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 564 | N>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs866803987 CA335086979 |
576 | A>S | No |
ClinGen Ensembl |
|
|
rs964376384 CA335086965 |
577 | G>* | No |
ClinGen Ensembl |
|
| TCGA novel | 579 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs952001077 CA335086951 |
580 | G>R | No |
ClinGen TOPMed |
|
|
rs780271134 CA10511608 |
584 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs1333944684 CA414546041 |
585 | S>R | No |
ClinGen TOPMed |
|
|
CA414546006 rs1414780391 |
590 | I>V | No |
ClinGen gnomAD |
|
|
CA10511606 rs750601982 |
592 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs1471811257 CA414545995 |
592 | Y>H | No |
ClinGen gnomAD |
|
| TCGA novel | 595 | D>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA414545935 rs1472276981 |
600 | V>I | No |
ClinGen gnomAD |
|
|
rs757512875 CA10511604 |
605 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA335086169 rs886080461 |
610 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs150411843 CA10511595 |
614 | K>E | No |
ClinGen ESP ExAC gnomAD |
|
|
rs773042691 CA10511594 |
618 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1426102353 CA414545800 |
618 | R>H | No |
ClinGen gnomAD |
|
|
rs772198510 CA10511593 |
619 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs748089930 CA10511592 |
621 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA414545782 rs1422818864 |
621 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
CA414545777 rs1417804713 |
622 | L>F | No |
ClinGen TOPMed |
|
|
RCV001293863 rs1934065144 |
625 | D>G | No |
ClinVar dbSNP |
|
|
rs759657628 CA10511591 |
626 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746121760 CA10511589 |
633 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA10511588 rs781230500 |
634 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs757468537 CA10511587 |
636 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs751918936 CA10511586 |
638 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 639 | K>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 641 | R>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1218695607 CA414545649 |
641 | R>T | No |
ClinGen gnomAD |
|
|
CA414545637 rs1326501277 |
643 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA414545626 rs1602695855 |
644 | S>L | No |
ClinGen Ensembl |
|
| TCGA novel | 645 | I>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1023060018 CA335086106 |
645 | I>V | No |
ClinGen TOPMed |
|
|
rs758912108 CA10511584 |
647 | I>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 650 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 652 | L>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA335085581 rs1030118590 |
654 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
rs758713841 CA10511566 |
655 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
VAR_001242 CA10511565 rs1134838 |
656 | Q>R | No |
ClinGen UniProt ESP ExAC TOPMed dbSNP |
|
|
CA10511564 rs759040361 |
661 | A>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1050214398 CA335085546 |
664 | E>A | No |
ClinGen TOPMed |
|
|
CA10511562 rs753349888 |
664 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10511561 rs765912539 |
665 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201836596 CA10511560 |
670 | R>W | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1263199943 CA414545432 |
671 | H>P | No |
ClinGen gnomAD |
|
|
CA10511558 rs767439866 |
671 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 672 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA414545403 rs1432560380 |
675 | H>Q | No |
ClinGen gnomAD |
|
| TCGA novel | 677 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1329267338 CA414545387 |
678 | A>S | No |
ClinGen gnomAD |
|
|
RCV001192495 rs1303741633 CA414545375 |
680 | K>E | No |
ClinGen ClinVar TOPMed dbSNP |
|
|
rs1043351164 CA335085502 |
687 | E>K | No |
ClinGen Ensembl |
|
|
CA10511556 rs371904518 |
688 | D>N | No |
ClinGen ESP ExAC gnomAD |
|
|
rs764174353 CA10511555 |
689 | I>L | No |
ClinGen ExAC gnomAD |
|
|
CA10511554 rs762935061 |
691 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA335085494 rs1011503516 |
691 | T>S | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 695 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA414545266 rs1483326392 |
696 | G>R | No |
ClinGen gnomAD |
|
| TCGA novel | 702 | E>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10511542 rs750129613 |
702 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA335084743 rs12388502 |
705 | E>Q | No |
ClinGen Ensembl |
|
|
CA10511540 rs756947225 |
706 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA414545169 rs763945114 |
708 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
rs763945114 CA10511538 |
708 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs199912961 CA335084699 |
709 | K>E | No |
ClinGen Ensembl |
|
| rs1264581496 | 710 | M>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs762803808 CA10511537 |
711 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs762777160 CA10511536 |
714 | S>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 717 | N>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 719 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1483660352 CA414545095 |
719 | R>K | No |
ClinGen TOPMed |
|
|
rs766401027 CA10511535 |
721 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 725 | S>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10511534 rs371621678 |
728 | K>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 733 | D>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1220582729 CA414544948 |
738 | Q>R | No |
ClinGen gnomAD |
|
|
CA10511520 rs751189118 |
740 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA414544914 rs1210862046 |
741 | G>V | No |
ClinGen gnomAD |
|
|
rs1488259137 CA414544877 |
746 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
CA335081763 rs151233619 |
748 | P>L | No |
ClinGen ESP TOPMed |
|
|
rs926808666 CA335081769 |
748 | P>T | No |
ClinGen TOPMed |
|
| TCGA novel | 751 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA414544843 rs1180246498 |
752 | E>K | No |
ClinGen TOPMed |
|
|
rs1342799293 CA414544833 |
753 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA10511519 rs777452277 |
753 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10511518 rs368573573 |
756 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1309078414 CA414544805 |
757 | Y>C | No |
ClinGen gnomAD |
|
| TCGA novel | 758 | A>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs764568856 CA10511516 |
758 | A>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA414544780 rs1387177453 |
761 | A>T | No |
ClinGen gnomAD |
|
| TCGA novel | 764 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1021923595 CA335081726 |
764 | R>T | No |
ClinGen Ensembl |
|
|
CA414544738 rs1442703369 |
767 | L>W | No |
ClinGen TOPMed |
|
|
CA414544732 rs1011900696 |
768 | R>C | No |
ClinGen gnomAD |
|
|
CA414544730 rs1318171945 |
768 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA335081719 rs1011900696 |
768 | R>S | No |
ClinGen gnomAD |
|
| TCGA novel | 773 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
RCV000895829 rs186125032 CA10511513 |
775 | P>Q | No |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
rs201270823 CA10511501 |
778 | P>S | No |
ClinGen 1000Genomes ExAC |
|
|
rs1448559106 CA414544647 |
779 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA414544648 rs1300753039 |
779 | R>W | No |
ClinGen gnomAD |
|
|
rs752596447 CA10511500 |
781 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs920562330 CA335081555 |
785 | N>D | No |
ClinGen gnomAD |
|
|
RCV001293864 rs1933619118 |
785 | N>S | No |
ClinVar dbSNP |
|
|
CA414544574 rs1414006572 |
788 | D>V | No |
ClinGen Ensembl |
|
| TCGA novel | 788 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs754918028 CA10511498 |
794 | P>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 794 | P>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10511497 rs753720962 |
795 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10511496 rs375431295 |
795 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA gnomAD |
|
rs1393694260 CA414544496 |
796 | L>S | No |
ClinGen gnomAD |
|
| TCGA novel | 801 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10511495 rs761837308 |
802 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA414544431 rs1440532596 |
803 | E>G | No |
ClinGen gnomAD |
|
| TCGA novel | 804 | I>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1179745870 CA414544411 |
805 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA414544412 rs1179745870 |
805 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs181583392 CA335081538 |
807 | Y>F | No |
ClinGen 1000Genomes |
|
|
CA10511493 rs764422571 |
808 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA335081535 rs144031700 |
808 | R>W | No |
ClinGen ESP TOPMed gnomAD |
|
| TCGA novel | 810 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA414544367 rs1200970940 |
810 | T>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 812 | G>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs775989168 CA10511490 |
814 | K>T | No |
ClinGen ExAC |
|
|
rs1034839208 CA335076693 |
815 | V>I | No |
ClinGen TOPMed |
|
|
rs868329981 CA335076690 |
816 | P>L | No |
ClinGen Ensembl |
|
|
CA414544209 rs1255399044 |
821 | I>M | No |
ClinGen gnomAD |
|
|
CA414544211 rs1440863758 |
821 | I>T | No |
ClinGen TOPMed |
|
|
rs1328827766 CA414544206 |
822 | P>S | No |
ClinGen TOPMed |
|
|
rs1003402420 CA335076668 |
824 | P>S | No |
ClinGen Ensembl |
|
| TCGA novel | 826 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs373123186 CA10511476 |
827 | A>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA414544178 rs1440154360 |
827 | A>T | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 828 | Q>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA414544170 rs1314097768 |
828 | Q>P | No |
ClinGen TOPMed |
|
|
rs1196358646 CA414544163 |
829 | R>K | No |
ClinGen gnomAD |
|
|
CA10511475 rs780004002 |
830 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs1481567166 CA414544156 |
830 | E>K | No |
ClinGen gnomAD |
|
|
CA414544151 rs1272294010 |
831 | E>K | No |
ClinGen gnomAD |
|
|
CA414544143 rs1357793783 |
832 | Q>K | No |
ClinGen gnomAD |
|
|
rs1317378571 CA414544134 |
833 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
CA414544129 rs1232196800 |
833 | K>N | No |
ClinGen gnomAD |
|
| TCGA novel | 834 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA414544115 rs1354113649 |
835 | I>T | No |
ClinGen gnomAD |
|
|
CA414544118 rs1242844055 |
835 | I>V | No |
ClinGen gnomAD |
|
|
RCV000882228 rs34182579 CA10511472 |
837 | G>A | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA10511473 rs34182579 |
837 | G>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA414544098 rs1400933527 |
838 | A>S | No |
ClinGen gnomAD |
|
|
CA414544092 rs1344979581 |
839 | E>K | No |
ClinGen gnomAD |
|
|
rs764074737 CA10511471 |
840 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA414544079 rs1438420863 |
841 | L>V | No |
ClinGen TOPMed |
|
|
rs1407269659 CA414544068 |
843 | P>A | No |
ClinGen gnomAD |
|
|
rs1414848647 CA414544066 |
843 | P>R | No |
ClinGen gnomAD |
|
|
rs144438826 CA10511470 |
848 | E>D | No |
ClinGen ESP ExAC gnomAD |
|
|
rs752804021 CA10511469 |
849 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA10511468 rs765719115 |
850 | E>Q | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 851 | K>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 851 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 851 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1569430052 CA414543978 |
855 | Q>H | No |
ClinGen Ensembl |
|
|
rs777114209 CA10511466 |
855 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 863 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1307421349 CA414543883 |
867 | Q>E | No |
ClinGen gnomAD |
|
|
rs1271575906 CA414543879 |
867 | Q>L | No |
ClinGen gnomAD |
|
|
CA10511444 rs766784929 |
871 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA414543820 rs1478858566 |
875 | Y>C | No |
ClinGen TOPMed |
|
| TCGA novel | 875 | Y>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA414543788 rs1385508340 |
879 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
CA414543783 rs1164674474 |
880 | I>T | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 882 | N>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10511442 rs750850527 |
884 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs971563017 CA335074564 |
889 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
rs761265721 CA10511440 |
890 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA10511439 rs199564138 |
891 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA414543707 rs199564138 |
891 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA414543708 rs199564138 |
891 | S>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs905391031 CA335074526 |
896 | M>T | No |
ClinGen TOPMed |
|
|
rs754058674 CA10511426 |
905 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 905 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs756398461 CA10511424 |
907 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs780591745 CA10511425 |
907 | N>Y | No |
ClinGen ExAC gnomAD |
|
|
CA414543536 rs767954375 |
913 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs1363598230 CA414543521 |
915 | I>T | No |
ClinGen TOPMed |
|
|
rs1017337135 CA335072746 |
916 | M>I | No |
ClinGen Ensembl |
|
|
rs139464837 CA10511421 |
917 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs751134240 CA10511420 |
918 | Q>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA10511419 rs763525893 |
921 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA335072738 rs866905964 |
928 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs201847976 CA10511417 |
929 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769660834 CA10511416 |
929 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs759298209 CA10511415 |
932 | I>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 934 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1304104764 CA414543391 |
935 | A>T | No |
ClinGen TOPMed |
|
| TCGA novel | 938 | A>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 939 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 942 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs763617621 CA10511402 |
944 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10511401 rs757864280 |
951 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753758218 CA335072503 |
951 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs753758218 CA335072493 |
951 | R>L | No |
ClinGen Ensembl |
|
| TCGA novel | 953 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA335072472 rs921248882 |
958 | K>R | No |
ClinGen Ensembl |
|
|
CA414543208 rs1484999515 |
960 | K>Q | No |
ClinGen gnomAD |
|
| TCGA novel | 968 | R>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| VAR_079028 | 978 | G>V | found in a patient with Rett syndrome-like phenotype; unknown pathological significance [UniProt] | No | UniProt |
|
CA10511396 rs199646162 |
981 | R>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1288224071 CA414542982 |
989 | R>K | No |
ClinGen gnomAD |
|
|
CA414542974 rs1295987606 |
990 | Q>L | No |
ClinGen gnomAD |
|
| TCGA novel | 990 | Q>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA414542944 rs1326385657 |
995 | A>T | No |
ClinGen TOPMed |
|
|
CA10511395 rs760708355 |
995 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1327517788 CA414542872 |
1004 | I>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA335072440 rs141585058 |
1009 | A>V | No |
ClinGen ESP TOPMed |
|
|
CA10511391 rs775629775 |
1014 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA414542657 rs1200644579 |
1015 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA335062586 rs374386403 |
1017 | N>S | No |
ClinGen ESP TOPMed |
|
| TCGA novel | 1027 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10511387 rs757569932 |
1027 | N>Y | No |
ClinGen ExAC gnomAD |
|
|
CA10511386 rs147306232 CA414542559 RCV001091715 |
1028 | M>I | No |
ClinGen ESP ExAC TOPMed gnomAD ClinVar dbSNP |
|
|
rs1441212169 CA414542515 |
1034 | E>G | No |
ClinGen gnomAD |
|
|
CA10511385 rs370073649 |
1035 | R>K | No |
ClinGen ESP ExAC gnomAD |
|
| TCGA novel | 1036 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10511383 rs752215424 |
1041 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA335062482 rs970330289 |
1041 | R>W | No |
ClinGen TOPMed |
|
|
CA335062474 rs143905690 |
1043 | T>S | No |
ClinGen ESP TOPMed |
|
|
CA10511381 rs754597983 |
1047 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs759052949 CA10511382 |
1047 | M>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1397293419 CA414542406 |
1050 | F>Y | No |
ClinGen gnomAD |
|
|
rs1016521220 CA335062461 |
1052 | A>S | No |
ClinGen TOPMed |
|
| rs377501295 | 1055 | S>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
No associated diseases with P28370
2 regional properties for P28370
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Sodium/calcium exchanger membrane region | 97 - 257 | IPR004837-1 |
| domain | Sodium/calcium exchanger membrane region | 290 - 433 | IPR004837-2 |
Functions
| Description | ||
|---|---|---|
| EC Number | 3.6.4.- | Acting on ATP; involved in cellular and subcellular movement |
| Subcellular Localization |
|
|
| PANTHER Family | ||
| PANTHER Subfamily | ||
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
6 GO annotations of cellular component
| Name | Definition |
|---|---|
| ATPase complex | A protein complex which is capable of ATPase activity. |
| CERF complex | An ISWI complex that contains an ATPase subunit of the ISWI family (specifically SNF2L in mammals, which contain two ISWI homologs) and a CECR2 homolog. In mammals, CERF is involved in regulation of transcription from RNA polymerase II promoters. |
| intracellular membrane-bounded organelle | Organized structure of distinctive morphology and function, bounded by a single or double lipid bilayer membrane and occurring within the cell. Includes the nucleus, mitochondria, plastids, vacuoles, and vesicles. Excludes the plasma 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. |
| NURF complex | An ISWI complex that contains an ATPase subunit of the ISWI family (SNF2L in mammals), a NURF301 homolog (BPTF in humans), and additional subunits, though the composition of these additional subunits varies slightly with species. NURF is involved in regulation of transcription from TRNA polymerase II promoters. |
9 GO annotations of molecular function
| Name | Definition |
|---|---|
| ATP binding | Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator. |
| ATP hydrolysis activity | Catalysis of the reaction |
| ATP-dependent chromatin remodeler activity | An activity, driven by ATP hydrolysis, that modulates the contacts between histones and DNA, resulting in a change in chromosome architecture within the nucleosomal array, leading to chromatin remodeling. |
| ATP-dependent DNA/DNA annealing activity | An ATP-dependent activity that facilitates the formation of a complementary double-stranded DNA molecule. |
| DNA binding | Any molecular function by which a gene product interacts selectively and non-covalently with DNA (deoxyribonucleic acid). |
| helicase activity | Catalysis of the reaction |
| 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. |
| nucleosome binding | Binding to a nucleosome, a complex comprised of DNA wound around a multisubunit core and associated proteins, which forms the primary packing unit of DNA into higher order structures. |
| RNA polymerase II-specific DNA-binding transcription factor binding | Binding to a sequence-specific DNA binding RNA polymerase II transcription factor, any of the factors that interact selectively and non-covalently with a specific DNA sequence in order to modulate transcription. |
7 GO annotations of biological process
| Name | Definition |
|---|---|
| brain development | The process whose specific outcome is the progression of the brain over time, from its formation to the mature structure. Brain development begins with patterning events in the neural tube and ends with the mature structure that is the center of thought and emotion. The brain is responsible for the coordination and control of bodily activities and the interpretation of information from the senses (sight, hearing, smell, etc.). |
| 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. |
| neuron differentiation | The process in which a relatively unspecialized cell acquires specialized features of a neuron. |
| nucleosome organization | A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of one or more nucleosomes. |
| positive regulation of DNA-templated transcription | Any process that activates or increases the frequency, rate or extent of cellular DNA-templated transcription. |
| positive regulation of transcription by RNA polymerase II | Any process that activates or increases the frequency, rate or extent of transcription from an RNA polymerase II promoter. |
| regulation of DNA-templated transcription | Any process that modulates the frequency, rate or extent of cellular DNA-templated transcription. |
17 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| P38144 | ISW1 | ISWI chromatin-remodeling complex ATPase ISW1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast) | PR |
| Q3B7N1 | CHD1L | Chromodomain-helicase-DNA-binding protein 1-like | Bos taurus (Bovine) | SS |
| Q24368 | Iswi | Chromatin-remodeling complex ATPase chain Iswi | Drosophila melanogaster (Fruit fly) | SS |
| Q86WJ1 | CHD1L | Chromodomain-helicase-DNA-binding protein 1-like | Homo sapiens (Human) | EV |
| Q9NRZ9 | HELLS | Lymphoid-specific helicase | Homo sapiens (Human) | PR |
| Q9H4L7 | SMARCAD1 | SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A containing DEAD/H box 1 | Homo sapiens (Human) | PR |
| O60264 | SMARCA5 | SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A member 5 | Homo sapiens (Human) | EV |
| Q60848 | Hells | Lymphocyte-specific helicase | Mus musculus (Mouse) | PR |
| Q9CXF7 | Chd1l | Chromodomain-helicase-DNA-binding protein 1-like | Mus musculus (Mouse) | SS |
| P40201 | Chd1 | Chromodomain-helicase-DNA-binding protein 1 | Mus musculus (Mouse) | PR |
| Q91ZW3 | Smarca5 | SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A member 5 | Mus musculus (Mouse) | SS |
| Q6PGB8 | Smarca1 | Probable global transcription activator SNF2L1 | Mus musculus (Mouse) | SS |
| Q7G8Y3 | Os01g0367900 | Probable chromatin-remodeling complex ATPase chain | Oryza sativa subsp japonica (Rice) | PR |
| P41877 | isw-1 | Chromatin-remodeling complex ATPase chain isw-1 | Caenorhabditis elegans | SS |
| Q22516 | chd-3 | Chromodomain-helicase-DNA-binding protein 3 homolog | Caenorhabditis elegans | PR |
| Q9XFH4 | DDM1 | ATP-dependent DNA helicase DDM1 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q8RWY3 | CHR11 | ISWI chromatin-remodeling complex ATPase CHR11 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MEQDTAAVAA | TVAAADATAT | IVVIEDEQPG | PSTSQEEGAA | AAATEATAAT | EKGEKKKEKN |
| 70 | 80 | 90 | 100 | 110 | 120 |
| VSSFQLKLAA | KAPKSEKEMD | PEYEEKMKAD | RAKRFEFLLK | QTELFAHFIQ | PSAQKSPTSP |
| 130 | 140 | 150 | 160 | 170 | 180 |
| LNMKLGRPRI | KKDEKQSLIS | AGDYRHRRTE | QEEDEELLSE | SRKTSNVCIR | FEVSPSYVKG |
| 190 | 200 | 210 | 220 | 230 | 240 |
| GPLRDYQIRG | LNWLISLYEN | GVNGILADEM | GLGKTLQTIA | LLGYLKHYRN | IPGPHMVLVP |
| 250 | 260 | 270 | 280 | 290 | 300 |
| KSTLHNWMNE | FKRWVPSLRV | ICFVGDKDAR | AAFIRDEMMP | GEWDVCVTSY | EMVIKEKSVF |
| 310 | 320 | 330 | 340 | 350 | 360 |
| KKFHWRYLVI | DEAHRIKNEK | SKLSEIVREF | KSTNRLLLTG | TPLQNNLHEL | WALLNFLLPD |
| 370 | 380 | 390 | 400 | 410 | 420 |
| VFNSADDFDS | WFDTKNCLGD | QKLVERLHAV | LKPFLLRRIK | TDVEKSLPPK | KEIKIYLGLS |
| 430 | 440 | 450 | 460 | 470 | 480 |
| KMQREWYTKI | LMKDIDVLNS | SGKMDKMRLL | NILMQLRKCC | NHPYLFDGAE | PGPPYTTDEH |
| 490 | 500 | 510 | 520 | 530 | 540 |
| IVSNSGKMVV | LDKLLAKLKE | QGSRVLIFSQ | MTRLLDILED | YCMWRGYEYC | RLDGQTPHEE |
| 550 | 560 | 570 | 580 | 590 | 600 |
| REDKFLEVEF | LGQREAIEAF | NAPNSSKFIF | MLSTRAGGLG | INLASADVVI | LYDSDWNPQV |
| 610 | 620 | 630 | 640 | 650 | 660 |
| DLQAMDRAHR | IGQKKPVRVF | RLITDNTVEE | RIVERAEIKL | RLDSIVIQQG | RLIDQQSNKL |
| 670 | 680 | 690 | 700 | 710 | 720 |
| AKEEMLQMIR | HGATHVFASK | ESELTDEDIT | TILERGEKKT | AEMNERLQKM | GESSLRNFRM |
| 730 | 740 | 750 | 760 | 770 | 780 |
| DIEQSLYKFE | GEDYREKQKL | GMVEWIEPPK | RERKANYAVD | AYFREALRVS | EPKIPKAPRP |
| 790 | 800 | 810 | 820 | 830 | 840 |
| PKQPNVQDFQ | FFPPRLFELL | EKEILYYRKT | IGYKVPRNPD | IPNPALAQRE | EQKKIDGAEP |
| 850 | 860 | 870 | 880 | 890 | 900 |
| LTPEETEEKE | KLLTQGFTNW | TKRDFNQFIK | ANEKYGRDDI | DNIAREVEGK | SPEEVMEYSA |
| 910 | 920 | 930 | 940 | 950 | 960 |
| VFWERCNELQ | DIEKIMAQIE | RGEARIQRRI | SIKKALDAKI | ARYKAPFHQL | RIQYGTSKGK |
| 970 | 980 | 990 | 1000 | 1010 | 1020 |
| NYTEEEDRFL | ICMLHKMGFD | RENVYEELRQ | CVRNAPQFRF | DWFIKSRTAM | EFQRRCNTLI |
| 1030 | 1040 | 1050 | |||
| SLIEKENMEI | EERERAEKKK | RATKTPMVKF | SAFS |