Q9H7L9
Gene name |
SUDS3 (SAP45, SDS3) |
Protein name |
Sin3 histone deacetylase corepressor complex component SDS3 |
Names |
45 kDa Sin3-associated polypeptide, Suppressor of defective silencing 3 protein homolog |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:64426 |
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 Q9H7L9
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q9H7L9-F1 | Predicted | AlphaFoldDB |
220 variants for Q9H7L9
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
| TCGA novel | 1 | M>? | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs746669779 CA6818517 |
4 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs746669779 CA386617191 |
4 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA386617193 rs1479982907 |
4 | A>V | No |
ClinGen gnomAD |
|
|
CA6818518 rs768250848 |
6 | L>M | No |
ClinGen ExAC gnomAD |
|
|
rs1593744291 CA386617205 |
6 | L>R | No |
ClinGen Ensembl |
|
|
rs1310294591 CA386617209 |
7 | L>P | No |
ClinGen TOPMed |
|
|
CA386617208 rs1310294591 |
7 | L>R | No |
ClinGen TOPMed |
|
|
CA386617216 rs1162017222 |
8 | A>V | No |
ClinGen gnomAD |
|
|
rs780697128 CA6818521 |
9 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs747666799 CA6818522 |
10 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA386617226 rs1328345350 |
10 | A>V | No |
ClinGen gnomAD |
|
|
rs1566193084 CA386617230 |
11 | P>Q | No |
ClinGen Ensembl |
|
|
rs563028233 CA6818523 |
14 | A>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs760160171 CA6818525 |
16 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386617266 rs1243530400 |
17 | P>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA386617267 rs1243530400 |
17 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
CA386617265 rs1381897547 |
17 | P>S | No |
ClinGen gnomAD |
|
|
CA386617278 rs772479705 |
19 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386617279 rs772479705 |
19 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6818526 rs772479705 |
19 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA244288137 rs544700850 |
20 | P>L | No |
ClinGen 1000Genomes |
|
|
rs1188164097 CA386617291 |
21 | E>D | No |
ClinGen TOPMed |
|
|
rs1198656930 CA386617289 |
21 | E>G | No |
ClinGen gnomAD |
|
|
rs866966874 CA244288143 |
23 | Y>* | No |
ClinGen Ensembl |
|
|
rs1239356525 CA386617313 |
24 | P>R | No |
ClinGen gnomAD |
|
|
CA386617330 rs1182171859 |
27 | D>N | No |
ClinGen gnomAD |
|
|
rs1358943164 CA386617351 |
29 | E>V | No |
ClinGen gnomAD |
|
|
rs892087195 CA244288152 |
31 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
rs764224525 CA6818529 |
31 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA6818530 rs753872124 |
32 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1411757672 CA386617370 |
32 | S>R | No |
ClinGen gnomAD |
|
|
CA386617404 rs1405327969 |
37 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA386617432 rs1340831627 |
41 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1045838087 CA244288163 |
41 | R>L | No |
ClinGen TOPMed |
|
|
CA386617434 rs1045838087 |
41 | R>Q | No |
ClinGen TOPMed |
|
|
rs1053744960 CA244288168 |
42 | G>V | No |
ClinGen TOPMed |
|
|
rs1268054154 CA386617444 |
43 | R>H | No |
ClinGen gnomAD |
|
|
rs765352402 CA6818532 |
45 | S>W | No |
ClinGen ExAC gnomAD |
|
|
CA386617466 rs1403316498 |
46 | D>E | No |
ClinGen TOPMed |
|
|
rs1261929353 CA386617464 |
46 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1218735000 CA386617461 |
46 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1261929353 CA386617465 |
46 | D>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1412409740 CA386617478 |
48 | D>N | No |
ClinGen TOPMed |
|
|
rs773338440 CA6818551 |
52 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1362202212 CA386615165 |
57 | L>V | No |
ClinGen gnomAD |
|
|
CA386615170 rs1566195001 |
58 | A>P | No |
ClinGen Ensembl |
|
|
rs766233481 CA6818554 |
60 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs1162927693 CA386615193 |
61 | D>G | No |
ClinGen TOPMed |
|
|
rs751330932 CA6818555 |
61 | D>H | No |
ClinGen ExAC gnomAD |
|
|
rs767458289 CA6818557 |
62 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA386615210 rs1332219006 |
63 | E>D | No |
ClinGen gnomAD |
|
|
CA386615216 rs1391280323 |
64 | D>V | No |
ClinGen TOPMed gnomAD |
|
|
rs752392988 CA6818558 |
64 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
rs181326809 CA6818560 |
65 | Y>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA386615230 rs1342574606 |
66 | V>A | No |
ClinGen gnomAD |
|
| TCGA novel | 67 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6818562 rs748749200 |
68 | M>V | No |
ClinGen ExAC gnomAD |
|
| rs1449318119 | 70 | E>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6818564 rs780445182 |
70 | E>A | No |
ClinGen ExAC gnomAD |
|
|
rs1268137527 CA386615267 |
71 | Q>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1268137527 CA386615268 |
71 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
CA6818587 rs756702598 |
72 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs1593754330 CA386615284 |
72 | M>V | No |
ClinGen Ensembl |
|
|
rs778528923 CA6818588 |
73 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA244291175 rs1014473502 |
74 | Q>R | No |
ClinGen TOPMed |
|
|
CA244291180 rs998007936 |
75 | D>E | No |
ClinGen Ensembl |
|
|
CA244291178 rs1036369847 |
75 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
rs752009155 CA6818589 |
75 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs755541953 CA6818591 |
78 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6818590 rs755541953 |
78 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6818592 rs748517926 |
82 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA6818593 rs769964804 |
83 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs777881792 CA6818594 |
83 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs202206050 CA244291187 |
83 | Q>R | No |
ClinGen 1000Genomes |
|
|
rs770909945 CA6818596 |
85 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA244291662 rs528980447 |
93 | Q>* | No |
ClinGen Ensembl |
|
|
rs756437913 CA6818611 |
94 | E>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1484729381 CA386615446 |
95 | Y>H | No |
ClinGen gnomAD |
|
|
CA386615453 rs1218353024 |
96 | Q>K | No |
ClinGen gnomAD |
|
|
rs1263363417 CA386615488 |
100 | K>R | No |
ClinGen gnomAD |
|
| TCGA novel | 102 | L>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA386615537 rs1479840725 |
106 | Y>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1240738725 CA386615542 |
107 | K>R | No |
ClinGen TOPMed |
|
|
CA386615556 rs1187515448 |
109 | R>K | No |
ClinGen TOPMed |
|
|
CA386615570 rs1423741028 |
111 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA6818612 rs778267106 |
111 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA6818613 rs749457609 |
113 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs201143743 CA6818625 |
114 | E>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA244292567 rs201143743 |
114 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 114 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA244292854 rs984721833 |
121 | T>A | No |
ClinGen TOPMed |
|
|
CA386615681 rs1174175836 |
124 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA386615679 rs1174175836 |
124 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
CA6818680 rs749109444 |
125 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs770521321 CA6818681 |
126 | R>* | No |
ClinGen ExAC gnomAD |
|
|
rs778513849 CA6818682 COSM1227978 |
126 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs745546784 CA6818683 |
127 | N>Y | No |
ClinGen ExAC gnomAD |
|
|
rs910638387 CA244292862 |
128 | Y>* | No |
ClinGen TOPMed |
|
|
rs372566624 CA6818684 |
129 | I>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA386615710 rs1169919465 |
129 | I>V | No |
ClinGen TOPMed |
|
| TCGA novel | 131 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs774922551 CA6818685 |
131 | E>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 131 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA386615757 rs1246273218 |
135 | A>V | No |
ClinGen TOPMed |
|
|
rs770430497 CA6818687 |
141 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386615812 rs1284174474 |
143 | K>E | No |
ClinGen gnomAD |
|
|
CA386615819 rs1236913555 |
144 | V>I | No |
ClinGen TOPMed |
|
| TCGA novel | 148 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs766902385 CA6818690 |
148 | E>D | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
| TCGA novel | 148 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs369923125 CA6818692 |
152 | A>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA386615878 rs1217179309 |
153 | E>K | No |
ClinGen TOPMed |
|
|
rs373116917 CA6818693 |
155 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA386615891 rs373116917 |
155 | E>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA244292878 rs201081140 |
158 | K>R | No |
ClinGen 1000Genomes |
|
|
rs756035632 CA6818695 CA386615935 |
160 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6818694 rs752720503 |
160 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA386615958 rs1442492517 |
163 | N>K | No |
ClinGen TOPMed |
|
|
CA386615993 rs1442631323 |
168 | M>I | No |
ClinGen TOPMed |
|
|
CA6818697 rs753821236 |
168 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386616013 rs1356118967 |
171 | T>S | No |
ClinGen TOPMed |
|
|
rs1387963971 CA386616019 |
172 | G>A | No |
ClinGen gnomAD |
|
|
CA386616041 rs1291761178 |
173 | D>E | No |
ClinGen TOPMed |
|
|
rs988586329 CA244295316 |
174 | S>C | No |
ClinGen TOPMed |
|
|
CA6818725 rs754510487 |
175 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA386616063 rs1196682353 |
177 | V>M | No |
ClinGen gnomAD |
|
|
rs1308781359 CA386616140 |
188 | R>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 192 | P>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6818728 COSM1586193 rs771567083 |
193 | V>I | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs1422281395 CA386616200 |
197 | D>G | No |
ClinGen gnomAD |
|
|
CA6818729 rs774735602 |
198 | K>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 199 | R>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs775544200 CA6818732 |
202 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs760954042 CA6818733 |
204 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1049843436 CA244295682 COSM3710693 |
205 | A>V | upper_aerodigestive_tract [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
CA386616326 rs1362645207 |
213 | D>V | No |
ClinGen gnomAD |
|
|
rs1386137210 CA386616350 |
216 | I>S | No |
ClinGen gnomAD |
|
|
CA386616373 rs1206126731 |
219 | D>G | No |
ClinGen TOPMed |
|
| TCGA novel | 220 | L>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6818749 rs746426545 |
221 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6818768 rs758955835 |
226 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA244295784 rs374831127 |
227 | K>R | No |
ClinGen ESP TOPMed |
|
|
CA244295786 rs199697453 |
228 | S>P | No |
ClinGen 1000Genomes |
|
|
CA386616456 rs1189790588 |
230 | K>R | No |
ClinGen TOPMed |
|
|
CA386616467 rs747407587 |
232 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs768818165 CA6818771 |
232 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs747407587 CA6818770 |
232 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs771181051 CA6818794 |
235 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA244296384 rs1000183597 |
236 | S>P | No |
ClinGen TOPMed |
|
| TCGA novel | 239 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6818795 rs774395545 |
239 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774395545 CA386616516 |
239 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6818796 rs745864666 |
242 | P>L | No |
ClinGen ExAC |
|
|
rs1168352037 CA386616540 |
242 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
COSM3980806 rs1168352037 CA386616538 |
242 | P>T | ovary [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
rs771978157 CA6818797 |
243 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs538334959 CA6818799 |
246 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6818800 rs763836948 |
246 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386616567 rs1295784045 |
247 | E>A | No |
ClinGen gnomAD |
|
|
rs1339163832 CA386616577 COSM3811177 |
248 | S>F | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA6818803 rs764768024 |
249 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA386616579 rs1433495669 |
249 | P>S | No |
ClinGen gnomAD |
|
|
CA386616583 rs942554767 |
250 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
rs942554767 CA244296414 |
250 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs112917165 CA244296419 |
250 | A>V | No |
ClinGen gnomAD |
|
|
rs370809170 CA6818804 |
251 | Q>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs767815527 CA6818806 |
253 | F>S | No |
ClinGen ExAC gnomAD |
|
|
CA6818807 rs753113225 |
254 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA6818809 rs373198095 |
256 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 256 | R>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6818810 rs749510680 |
257 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA386616644 rs1476935882 |
259 | D>V | No |
ClinGen gnomAD |
|
|
rs370306899 CA6818812 COSM1586192 |
260 | G>D | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs370306899 CA244296448 |
260 | G>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6818813 rs750399686 |
261 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 265 | D>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1400738595 CA386616692 |
266 | K>R | No |
ClinGen gnomAD |
|
|
CA386616727 rs1307387363 |
268 | W>C | No |
ClinGen gnomAD |
|
|
rs1239919523 CA386616734 |
269 | Y>* | No |
ClinGen gnomAD |
|
|
rs370035802 CA244300108 |
269 | Y>C | No |
ClinGen gnomAD |
|
|
rs1283657392 CA386616738 |
270 | H>Y | No |
ClinGen gnomAD |
|
|
rs764428907 CA6818828 |
273 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs1273669257 CA386616767 |
274 | A>T | No |
ClinGen gnomAD |
|
|
rs754074028 CA6818829 |
274 | A>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 275 | I>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs757566130 CA6818830 |
276 | Y>S | No |
ClinGen ExAC gnomAD |
|
|
rs1328220842 CA386616795 |
278 | E>G | No |
ClinGen TOPMed |
|
|
CA386616806 rs1381811005 |
280 | K>E | No |
ClinGen gnomAD |
|
|
rs773992339 CA244300121 |
281 | D>A | No |
ClinGen Ensembl |
|
|
rs779069152 CA6818831 |
281 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1438034266 CA386616823 |
282 | N>S | No |
ClinGen gnomAD |
|
|
rs879223193 CA244300126 |
288 | V>M | No |
ClinGen Ensembl |
|
|
CA386616875 rs1426471996 |
289 | I>M | No |
ClinGen TOPMed |
|
|
rs1366210205 CA386616877 |
290 | S>G | No |
ClinGen gnomAD |
|
|
CA386616881 rs1475869831 |
290 | S>N | No |
ClinGen gnomAD |
|
|
rs370752292 CA6818833 |
295 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA386616942 rs367623642 |
297 | I>M | No |
ClinGen ESP TOPMed gnomAD |
|
| TCGA novel | 297 | I>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 302 | T>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1339838516 CA386616983 |
303 | S>T | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 305 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 309 | R>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA386617043 rs1407132256 |
311 | Y>C | No |
ClinGen TOPMed |
|
|
rs1307883445 CA386617077 |
316 | Q>R | No |
ClinGen gnomAD |
|
|
rs1471032611 CA386617083 |
317 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
| TCGA novel | 321 | V>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs765577252 CA386617121 |
323 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs1284678288 CA386617122 |
323 | R>H | No |
ClinGen gnomAD |
|
|
rs765577252 CA6818851 |
323 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs1486981513 CA386617127 |
324 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA386617126 rs1281071207 |
324 | R>W | No |
ClinGen TOPMed |
|
|
CA386617132 rs1185298509 |
325 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA386617135 rs1593789619 |
325 | R>H | No |
ClinGen Ensembl |
|
| TCGA novel | 326 | S>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 326 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 327 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs750724463 CA244301550 |
329 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6818852 rs750724463 |
329 | A>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1224739484 CA386617155 |
329 | A>S | No |
ClinGen TOPMed |
No associated diseases with Q9H7L9
No regional properties for Q9H7L9
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| No domain, repeats, and functional sites for Q9H7L9 | |||
6 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| nuclear body | Extra-nucleolar nuclear domains usually visualized by confocal microscopy and fluorescent antibodies to specific proteins. |
| 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. |
| Sin3 complex | A multiprotein complex that functions broadly in eukaryotic organisms as a transcriptional repressor of protein-coding genes, through the gene-specific deacetylation of histones. Amongst its subunits, the Sin3 complex contains Sin3-like proteins, and a number of core proteins that are shared with the NuRD complex (including histone deacetylases and histone binding proteins). The Sin3 complex does not directly bind DNA itself, but is targeted to specific genes through protein-protein interactions with DNA-binding proteins. |
| Sin3-type complex | Any of a number of evolutionarily conserved histone deacetylase complexes (HDACs) containing a core consisting of a paired amphipathic helix motif protein (e.g. Sin3p in S. cerevisiae, Pst1 in S. pombe or Sin3A in mammals) at least one class I histone deacetylase (e.g. Rpd3p in S. cerevisiae, Clr6 in S. pombe, or HDAC1 and HDAC2 in mammals), and at least one WD40 repeat protein (e.g. Ume1p in S. cerevisiae, Prw1 in S. pombe, or RbAp46 and RbAp48 in mammals). These complexes also contain a variable number of other proteins that direct histone binding, DNA binding, or add other functionality to the complex. |
2 GO annotations of molecular function
| Name | Definition |
|---|---|
| enzyme binding | Binding to an enzyme, a protein with catalytic activity. |
| histone deacetylase binding | Binding to histone deacetylase. |
11 GO annotations of biological process
| Name | Definition |
|---|---|
| apoptotic process | A programmed cell death process which begins when a cell receives an internal (e.g. DNA damage) or external signal (e.g. an extracellular death ligand), and proceeds through a series of biochemical events (signaling pathway phase) which trigger an execution phase. The execution phase is the last step of an apoptotic process, and is typically characterized by rounding-up of the cell, retraction of pseudopodes, reduction of cellular volume (pyknosis), chromatin condensation, nuclear fragmentation (karyorrhexis), plasma membrane blebbing and fragmentation of the cell into apoptotic bodies. When the execution phase is completed, the cell has died. |
| chromatin organization | The assembly or remodeling of chromatin composed of DNA complexed with histones, other associated proteins, and sometimes RNA. |
| histone deacetylation | The modification of histones by removal of acetyl groups. |
| negative regulation of cell migration | Any process that stops, prevents, or reduces the frequency, rate or extent of cell migration. |
| negative regulation of DNA-templated transcription | Any process that stops, prevents, or reduces the frequency, rate or extent of cellular DNA-templated transcription. |
| negative regulation of stem cell population maintenance | Any process that stops, prevents or reduces the frequency, rate or extent of stem cell population maintenance. |
| negative regulation of transcription by RNA polymerase II | Any process that stops, prevents, or reduces the frequency, rate or extent of transcription mediated by RNA polymerase II. |
| negative regulation of transforming growth factor beta receptor signaling pathway | Any process that stops, prevents, or reduces the frequency, rate or extent of any TGF-beta receptor signaling pathway. |
| positive regulation of apoptotic process | Any process that activates or increases the frequency, rate or extent of cell death by apoptotic process. |
| positive regulation of stem cell population maintenance | Any process that activates or increases the frequency, rate or extent of stem cell population maintenance. |
| substantia nigra development | The progression of the substantia nigra over time from its initial formation until its mature state. The substantia nigra is the layer of gray substance that separates the posterior parts of the cerebral peduncles (tegmentum mesencephali) from the anterior parts; it normally includes a posterior compact part with many pigmented cells (pars compacta) and an anterior reticular part whose cells contain little pigment (pars reticularis). |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MSAAGLLAPA | PAQAGAPPAP | EYYPEEDEEL | ESAEDDERSC | RGRESDEDTE | DASETDLAKH |
| 70 | 80 | 90 | 100 | 110 | 120 |
| DEEDYVEMKE | QMYQDKLASL | KRQLQQLQEG | TLQEYQKRMK | KLDQQYKERI | RNAELFLQLE |
| 130 | 140 | 150 | 160 | 170 | 180 |
| TEQVERNYIK | EKKAAVKEFE | DKKVELKENL | IAELEEKKKM | IENEKLTMEL | TGDSMEVKPI |
| 190 | 200 | 210 | 220 | 230 | 240 |
| MTRKLRRRPN | DPVPIPDKRR | KPAPAQLNYL | LTDEQIMEDL | RTLNKLKSPK | RPASPSSPEH |
| 250 | 260 | 270 | 280 | 290 | 300 |
| LPATPAESPA | QRFEARIEDG | KLYYDKRWYH | KSQAIYLESK | DNQKLSCVIS | SVGANEIWVR |
| 310 | 320 | ||||
| KTSDSTKMRI | YLGQLQRGLF | VIRRRSAA |