Q9HCU9
Gene name |
BRMS1 |
Protein name |
Breast cancer metastasis-suppressor 1 |
Names |
|
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:25855 |
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
3 structures for Q9HCU9
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 2XUS | X-ray | 191 A | A/B | 51-98 | PDB |
| 4AUV | X-ray | 200 A | A/B/C/D/E/F/G/H | 51-84 | PDB |
| AF-Q9HCU9-F1 | Predicted | AlphaFoldDB |
223 variants for Q9HCU9
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs772080474 CA6120414 |
2 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs377244043 CA6120413 |
2 | P>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs772080474 CA381416280 |
2 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs1470808451 CA381416257 |
4 | Q>* | No |
ClinGen gnomAD |
|
|
rs201559182 CA6120412 |
6 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs147378296 CA6120410 |
7 | S>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA381416198 rs1252012530 |
8 | K>T | No |
ClinGen gnomAD |
|
|
rs1174330106 CA381416164 |
10 | T>K | No |
ClinGen TOPMed |
|
|
CA6120409 rs367827792 |
12 | E>K | No |
ClinGen ESP ExAC gnomAD |
|
|
CA381416120 rs1261772484 |
13 | M>I | No |
ClinGen gnomAD |
|
|
rs1179238080 CA381416094 |
15 | A>T | No |
ClinGen TOPMed |
|
|
CA6120408 rs142767365 |
15 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs550292191 CA6120407 |
16 | E>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6120405 rs756789800 |
19 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA381416042 rs1237146051 |
19 | S>P | No |
ClinGen gnomAD |
|
| TCGA novel | 23 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6120404 rs77057703 |
26 | E>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA6120402 rs138644780 |
29 | E>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs763888379 CA6120403 |
29 | E>K | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 32 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs752499898 CA6120400 |
33 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA381415922 rs1454386673 |
33 | E>K | No |
ClinGen gnomAD |
|
|
CA6120399 rs765067003 |
34 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759402490 CA6120398 |
35 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs772166702 CA381415906 CA6120396 |
35 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1159239724 CA381415905 |
36 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
| TCGA novel | 36 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA381415897 rs1443408319 |
37 | S>C | No |
ClinGen gnomAD |
|
|
CA381415892 rs1590930225 |
37 | S>R | No |
ClinGen Ensembl |
|
|
rs373981694 CA6120395 |
39 | T>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs768936731 CA381415872 |
40 | E>D | No |
ClinGen ExAC TOPMed |
|
|
CA381415878 rs1462099670 |
40 | E>K | No |
ClinGen gnomAD |
|
|
CA381415868 rs1590930191 |
41 | S>A | No |
ClinGen Ensembl |
|
|
CA381415865 rs1203662570 |
41 | S>L | No |
ClinGen gnomAD |
|
|
CA381415860 rs1555015522 |
42 | E>G | No |
ClinGen Ensembl |
|
|
rs1555015522 CA6120390 |
42 | E>V | No |
ClinGen Ensembl |
|
|
CA381415857 rs1486984957 |
43 | E>K | No |
ClinGen gnomAD |
|
|
rs1565207072 CA381415834 |
45 | S>R | No |
ClinGen Ensembl |
|
|
CA224039984 rs952363758 |
46 | S>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs746394925 CA6120386 |
47 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746394925 CA6120387 |
47 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs920915897 CA381415810 |
48 | M>L | No |
ClinGen gnomAD |
|
|
CA224039572 rs920915897 |
48 | M>V | No |
ClinGen gnomAD |
|
|
CA381415800 rs1271273660 |
49 | D>G | No |
ClinGen gnomAD |
|
|
rs757857414 CA6120348 |
49 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA381415786 rs1200243088 |
51 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA6120347 rs747784176 |
52 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA381415504 rs747784176 |
52 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1272276930 CA381415474 |
53 | Y>C | No |
ClinGen gnomAD |
|
|
rs1194003067 CA381415466 |
54 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1194003067 CA381415464 |
54 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs778576158 CA6120346 |
55 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA224039542 rs773322973 |
55 | R>Q | No |
ClinGen gnomAD |
|
|
CA381415440 rs1222620698 |
56 | R>C | No |
ClinGen gnomAD |
|
|
CA6120345 rs374621425 |
56 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1222620698 CA381415443 |
56 | R>S | No |
ClinGen gnomAD |
|
|
CA6120344 rs753669865 |
57 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1405043961 CA381415427 |
57 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
CA381415420 rs1334646656 |
58 | S>N | No |
ClinGen gnomAD |
|
|
rs201834097 CA224039518 |
59 | E>K | No |
ClinGen 1000Genomes |
|
|
CA224039512 rs756063796 |
60 | C>S | No |
ClinGen ExAC gnomAD |
|
|
rs756063796 CA6120342 |
60 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
rs750296700 CA6120341 |
61 | V>F | No |
ClinGen ExAC gnomAD |
|
|
CA381415366 rs1197280476 |
62 | S>N | No |
ClinGen TOPMed |
|
|
CA381415357 rs1429183916 |
63 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA224039507 rs1005335041 |
64 | M>I | No |
ClinGen TOPMed |
|
|
rs1431736990 CA381415300 |
67 | L>V | No |
ClinGen gnomAD |
|
| TCGA novel | 68 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6120336 rs759834920 |
70 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6120335 rs777193514 |
72 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773727934 CA6120332 |
77 | K>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1426313088 CA381415063 |
80 | R>T | No |
ClinGen TOPMed |
|
|
CA381415054 rs1156674553 |
81 | E>* | No |
ClinGen TOPMed |
|
|
CA224039323 COSM329054 COSM1317274 rs777309913 |
82 | R>* | liver haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA6120308 rs779635935 |
82 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA381415033 rs1430406662 |
83 | L>V | No |
ClinGen gnomAD |
|
|
CA6120306 rs745705747 |
84 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6120303 rs751394775 |
87 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757278464 CA6120304 |
87 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1590929151 CA381414990 |
88 | L>V | No |
ClinGen Ensembl |
|
|
rs564172836 CA6120301 |
89 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs564172836 CA381414983 |
89 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6120302 rs367854116 |
89 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs199933125 CA6120299 |
91 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA381414951 rs1240059703 |
92 | E>G | No |
ClinGen gnomAD |
|
|
rs760946811 CA381414933 |
93 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA6120298 rs760946811 |
93 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA6120296 rs767755816 |
95 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA381414910 rs1219564175 |
95 | A>V | No |
ClinGen gnomAD |
|
| TCGA novel | 97 | R>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs774685217 CA6120294 |
98 | A>D | No |
ClinGen ExAC gnomAD |
|
|
COSM1585938 CA6120292 COSM930718 rs762502004 |
102 | T>M | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs1400803460 CA381414795 |
104 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
rs774951857 CA6120291 |
105 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs374007540 CA381414772 |
106 | G>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA224039209 rs1027722053 |
106 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs374007540 CA6120290 |
106 | G>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA381414773 rs1027722053 |
106 | G>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA6120288 rs148062689 |
107 | G>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA381414762 rs148062689 |
107 | G>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6120289 rs745495658 |
107 | G>W | No |
ClinGen ExAC gnomAD |
|
|
CA224039191 rs894284057 |
108 | L>R | No |
ClinGen TOPMed |
|
|
rs746996980 CA6120285 |
110 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA381414731 rs1357422997 |
110 | R>W | No |
ClinGen TOPMed |
|
|
CA6120284 CA381414712 rs371890921 |
111 | S>R | No |
ClinGen ESP ExAC gnomAD |
|
|
CA6120283 rs758384368 |
113 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749417187 CA6120282 |
115 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA381414670 rs749417187 |
115 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM930717 CA6120281 rs541164374 COSM1585939 |
115 | R>H | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA381414669 rs541164374 |
115 | R>L | No |
ClinGen ExAC gnomAD |
|
|
CA381414666 rs1444163017 |
116 | I>V | No |
ClinGen TOPMed |
|
|
rs1565206314 CA381414658 |
117 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA381414598 rs764756155 |
120 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6120253 rs764756155 |
120 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1184945 rs1483720530 CA381414592 COSM1184946 |
121 | I>V | large_intestine [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA224038975 rs758921033 |
122 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs758921033 CA6120252 |
122 | Y>F | No |
ClinGen ExAC gnomAD |
|
|
CA6120251 rs776182648 |
123 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs186635131 CA6120250 |
125 | F>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6120249 rs186635131 |
125 | F>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs771932823 CA6120247 |
126 | C>S | No |
ClinGen ExAC gnomAD |
|
|
rs748130658 CA6120246 |
127 | L>P | No |
ClinGen ExAC |
|
|
rs1467750038 CA381414508 |
127 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1419719115 CA381414492 |
128 | D>G | No |
ClinGen TOPMed |
|
|
rs1590928762 CA381414477 |
129 | V>E | No |
ClinGen Ensembl |
|
|
CA381414455 rs550479193 |
131 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1312673283 CA381414443 |
132 | N>S | No |
ClinGen gnomAD |
|
|
rs753783270 CA381414404 |
134 | Y>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA381414408 rs1304273905 |
134 | Y>C | No |
ClinGen TOPMed |
|
|
rs1404777582 CA381414414 |
134 | Y>H | No |
ClinGen TOPMed |
|
|
COSM194375 rs768620232 CA6120244 |
135 | E>K | Variant assessed as Somatic; 4.634e-05 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA381414378 rs1287910736 |
136 | C>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs1444589958 CA381414303 |
142 | K>E | No |
ClinGen gnomAD |
|
|
CA6120242 rs781328384 |
143 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs781328384 CA6120243 |
143 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA381414276 rs1590928715 |
144 | H>Y | No |
ClinGen Ensembl |
|
|
rs1034218751 CA224038930 |
146 | E>K | No |
ClinGen TOPMed |
|
|
rs1287724284 CA381414198 |
147 | S>G | No |
ClinGen gnomAD |
|
| TCGA novel | 148 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6120221 rs371712796 |
153 | Y>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6120220 rs201498177 |
155 | T>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs779327411 CA6120218 |
156 | L>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 157 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs755492023 CA6120217 |
158 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA224038813 rs375028792 |
159 | E>* | No |
ClinGen Ensembl |
|
|
rs370788997 CA224038810 |
159 | E>V | No |
ClinGen Ensembl |
|
|
CA381414111 rs1590928543 |
160 | L>R | No |
ClinGen Ensembl |
|
|
rs116853990 CA6120216 |
162 | E>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs140338984 CA6120213 |
163 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
COSM1585941 rs140338984 CA6120212 COSM930715 |
163 | R>Q | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs755639797 CA6120214 |
163 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1424621566 CA381414083 |
165 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1171161107 CA381414076 |
166 | R>K | No |
ClinGen gnomAD |
|
|
CA381414062 rs1590928504 |
168 | E>G | No |
ClinGen Ensembl |
|
|
CA381414054 rs1590928492 |
169 | E>G | No |
ClinGen Ensembl |
|
|
CA6120210 rs751370154 |
171 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs200013073 CA6120209 |
171 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1248505855 CA381414035 |
172 | Q>P | No |
ClinGen gnomAD |
|
|
rs1248505855 CA381414034 |
172 | Q>R | No |
ClinGen gnomAD |
|
|
CA381414023 rs1590928470 |
173 | S>R | No |
ClinGen Ensembl |
|
|
CA6120208 rs762805402 |
174 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770936650 CA6120206 |
176 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA6120205 rs200297342 |
178 | S>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs575951728 CA224038767 |
179 | E>K | No |
ClinGen gnomAD |
|
|
rs1011825577 CA224038515 |
180 | W>C | No |
ClinGen TOPMed gnomAD |
|
|
rs865948521 CA224038509 |
181 | W>L | No |
ClinGen Ensembl |
|
|
CA381413957 rs1238903687 |
182 | D>N | No |
ClinGen gnomAD |
|
|
rs141305456 CA6120178 |
183 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1283289155 CA381413938 |
184 | K>R | No |
ClinGen gnomAD |
|
|
CA381413933 rs1468869031 |
185 | L>V | No |
ClinGen TOPMed |
|
|
rs1355055805 CA381413925 |
186 | H>P | No |
ClinGen TOPMed gnomAD |
|
|
CA6120174 rs746664615 |
187 | A>D | No |
ClinGen ExAC gnomAD |
|
|
CA6120175 rs756789967 |
187 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA224038500 rs746664615 |
187 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1285050200 CA381413916 |
188 | R>K | No |
ClinGen gnomAD |
|
|
rs777528665 CA381413901 |
190 | S>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6120173 rs777528665 |
190 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs531419407 CA6120172 |
191 | S>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA381413887 rs752604361 |
192 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs1590927939 CA381413884 |
193 | S>A | No |
ClinGen Ensembl |
|
|
rs1162834471 CA381413874 |
194 | W>* | No |
ClinGen gnomAD |
|
|
CA381413878 rs1420310752 |
194 | W>G | No |
ClinGen gnomAD |
|
|
rs1361103229 CA381413875 |
194 | W>L | No |
ClinGen gnomAD |
|
|
rs946541304 CA224038497 |
198 | P>L | No |
ClinGen gnomAD |
|
|
CA381413797 rs1260509548 |
205 | A>V | No |
ClinGen gnomAD |
|
|
CA6120165 rs774267037 |
206 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs369071599 CA6120166 |
206 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6120136 rs778485062 |
210 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1438269187 CA381413755 |
211 | P>S | No |
ClinGen gnomAD |
|
|
CA381413750 rs1255115164 |
212 | Y>H | No |
ClinGen TOPMed |
|
|
rs201158226 CA224038137 |
213 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6120134 rs749150566 |
213 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs199579517 CA224038130 |
214 | V>L | No |
ClinGen Ensembl |
|
|
rs199579517 CA224038133 |
214 | V>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA381413722 rs1212409210 |
216 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1254427890 CA381413724 |
216 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1312843824 CA381413707 |
218 | Q>R | No |
ClinGen gnomAD |
|
|
CA6120131 rs750265527 |
219 | E>G | No |
ClinGen ExAC |
|
|
CA6120129 rs758361866 |
221 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs752803795 CA6120128 |
222 | I>V | No |
ClinGen ExAC |
|
|
CA381413671 rs1447158738 |
224 | E>K | No |
ClinGen gnomAD |
|
|
rs765597819 CA6120127 |
225 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA381413655 rs1197006278 |
226 | W>R | No |
ClinGen TOPMed |
|
|
CA381413647 rs1590926621 |
227 | T>P | No |
ClinGen Ensembl |
|
|
CA6120126 rs759825542 |
229 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA6120124 rs544134195 |
230 | K>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6120123 rs761244905 |
231 | K>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 231 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA381413600 rs1218172694 |
233 | R>G | No |
ClinGen gnomAD |
|
|
rs758905839 CA224037943 |
234 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA6120061 rs758905839 |
234 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA6120060 rs149983593 |
235 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1432837451 CA381413585 |
235 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA6120059 rs548623692 |
236 | V>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA381413574 rs1415586092 |
237 | S>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs972722443 CA381413572 |
238 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
CA224037924 rs1008119943 |
238 | P>R | No |
ClinGen Ensembl |
|
|
rs972722443 CA224037926 |
238 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
COSM1356180 CA381413534 rs1420865742 COSM930714 |
243 | S>L | Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA6120057 rs753485547 |
243 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA224037920 rs1030988735 |
244 | D>N | No |
ClinGen Ensembl |
|
|
CA381413529 rs1287094732 |
244 | D>V | No |
ClinGen TOPMed |
|
|
CA6120037 rs750299317 |
246 | P>S | No |
ClinGen ExAC |
No associated diseases with Q9HCU9
No regional properties for Q9HCU9
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| No domain, repeats, and functional sites for Q9HCU9 | |||
5 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| 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 |
|---|---|
| histone deacetylase binding | Binding to histone deacetylase. |
| NF-kappaB binding | Binding to NF-kappaB, a transcription factor for eukaryotic RNA polymerase II promoters. |
12 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. |
| 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 NF-kappaB transcription factor activity | Any process that stops, prevents, or reduces the frequency, rate or extent of the activity of the transcription factor NF-kappaB. |
| 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 anoikis | Any process that activates or increases the frequency, rate or extent of anoikis. |
| positive regulation of protein deacetylation | Any process that increases the rate, frequency, or extent of protein deacetylation, the removal of an acetyl group from a protein amino acid. An acetyl group is CH3CO-, derived from acetic |
| positive regulation of stem cell population maintenance | Any process that activates or increases the frequency, rate or extent of stem cell population maintenance. |
| regulation of apoptotic process | Any process that modulates the occurrence or rate of cell death by apoptotic process. |
2 homologous proteins in AiPD
| 10 | 20 | 30 | 40 | 50 | 60 |
| MPVQPPSKDT | EEMEAEGDSA | AEMNGEEEES | EEERSGSQTE | SEEESSEMDD | EDYERRRSEC |
| 70 | 80 | 90 | 100 | 110 | 120 |
| VSEMLDLEKQ | FSELKEKLFR | ERLSQLRLRL | EEVGAERAPE | YTEPLGGLQR | SLKIRIQVAG |
| 130 | 140 | 150 | 160 | 170 | 180 |
| IYKGFCLDVI | RNKYECELQG | AKQHLESEKL | LLYDTLQGEL | QERIQRLEED | RQSLDLSSEW |
| 190 | 200 | 210 | 220 | 230 | 240 |
| WDDKLHARGS | SRSWDSLPPS | KRKKAPLVSG | PYIVYMLQEI | DILEDWTAIK | KARAAVSPQK |
| RKSDGP |