Q9BXM9
PR
Gene name |
FSD1L (CCDC10, CSDUFD1, FSD1CL, FSD1NL) |
Protein name |
FSD1-like protein |
Names |
Coiled-coil domain-containing protein 10, FSD1 N-terminal-like protein |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:83856 |
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 Q9BXM9
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q9BXM9-F1 | Predicted | AlphaFoldDB |
298 variants for Q9BXM9
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA198212763 rs866013615 |
2 | D>G | No |
ClinGen Ensembl |
|
|
rs1433208676 CA374374066 |
3 | S>F | No |
ClinGen gnomAD |
|
| TCGA novel | 7 | C>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1005993593 CA198214232 |
7 | C>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1184097529 CA374374935 |
9 | K>Q | No |
ClinGen gnomAD |
|
|
rs1300507755 CA374374954 |
11 | N>S | No |
ClinGen TOPMed |
|
|
rs1328868633 CA374374978 |
14 | V>A | No |
ClinGen TOPMed |
|
|
rs767481897 CA374374974 |
14 | V>F | No |
ClinGen TOPMed gnomAD |
|
|
rs767481897 CA198214234 |
14 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1564080824 CA374374981 |
15 | T>A | No |
ClinGen Ensembl |
|
|
rs1588927305 CA374374995 |
17 | D>G | No |
ClinGen Ensembl |
|
|
CA374375000 rs1171082971 |
18 | K>E | No |
ClinGen gnomAD |
|
|
rs897687465 CA198214235 |
18 | K>N | No |
ClinGen TOPMed |
|
|
CA374375029 rs1404420791 |
22 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA198214236 rs373696795 |
24 | S>C | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA374375041 rs1463883871 |
24 | S>P | No |
ClinGen TOPMed |
|
|
CA374375061 rs1201084422 |
27 | T>A | No |
ClinGen gnomAD |
|
|
rs749065352 CA5170100 |
28 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA374375075 rs1349177951 |
29 | G>E | No |
ClinGen gnomAD |
|
|
rs1397007002 CA374375079 |
30 | P>S | No |
ClinGen TOPMed |
|
|
rs1474161887 CA374375085 |
31 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA374375099 rs1457441241 |
33 | I>V | No |
ClinGen TOPMed |
|
|
CA374375106 rs1289395381 |
34 | N>D | No |
ClinGen TOPMed gnomAD |
|
|
CA198214237 rs1030170198 |
36 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
CA198214238 rs993720704 |
37 | Q>E | No |
ClinGen TOPMed |
|
|
CA374375133 rs1186958890 |
37 | Q>H | No |
ClinGen gnomAD |
|
|
rs776821757 CA5170105 |
42 | R>T | No |
ClinGen ExAC gnomAD |
|
|
CA374375183 rs1309212127 |
43 | I>T | No |
ClinGen gnomAD |
|
|
CA198214548 rs986422705 |
44 | I>V | No |
ClinGen Ensembl |
|
|
rs1588935511 CA374375223 |
50 | K>E | No |
ClinGen Ensembl |
|
|
CA374375237 rs1298655157 |
51 | N>K | No |
ClinGen gnomAD |
|
|
rs1297939565 CA374375234 |
51 | N>S | No |
ClinGen TOPMed |
|
|
rs1436232983 CA374375238 |
52 | D>N | No |
ClinGen TOPMed |
|
|
CA5170108 rs770295157 |
54 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1296273092 CA374375275 |
56 | N>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1457789630 CA374375300 |
60 | T>A | No |
ClinGen TOPMed |
|
|
rs1339507138 CA374375304 |
60 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA374375306 rs1230498001 |
61 | L>V | No |
ClinGen gnomAD |
|
|
rs1275340163 CA374375311 |
62 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA374375331 rs1488030655 |
64 | T>I | No |
ClinGen gnomAD |
|
|
rs1452428020 CA374375359 |
69 | Q>E | No |
ClinGen gnomAD |
|
|
rs1187957520 CA374375364 |
69 | Q>H | No |
ClinGen gnomAD |
|
|
CA198214992 rs1017281629 |
70 | E>* | No |
ClinGen TOPMed |
|
|
CA5170116 rs755605135 |
72 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5170119 rs757116627 |
73 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA374375409 rs1208319669 |
74 | N>I | No |
ClinGen TOPMed gnomAD |
|
|
CA374375408 rs1208319669 |
74 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1466305762 CA374375430 |
77 | S>L | No |
ClinGen gnomAD |
|
|
CA198214993 rs940330363 |
79 | L>F | No |
ClinGen gnomAD |
|
| TCGA novel | 82 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs527923665 CA5170120 |
82 | E>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1256012077 CA374375463 |
82 | E>K | No |
ClinGen gnomAD |
|
|
CA374375471 rs1408170015 |
83 | F>Y | No |
ClinGen TOPMed |
|
|
CA374375476 rs1422219539 |
84 | D>H | No |
ClinGen TOPMed |
|
|
rs1406837781 CA374375485 |
85 | S>G | No |
ClinGen gnomAD |
|
|
CA198214994 rs992630306 |
88 | S>C | No |
ClinGen TOPMed |
|
|
rs992630306 CA374375511 |
88 | S>F | No |
ClinGen TOPMed |
|
|
CA374375518 rs1369391202 |
89 | I>M | No |
ClinGen gnomAD |
|
|
CA374375513 rs1433347962 |
89 | I>V | No |
ClinGen gnomAD |
|
|
rs1588946303 CA374375519 |
90 | L>M | No |
ClinGen Ensembl |
|
|
rs1174989852 CA374375523 |
90 | L>R | No |
ClinGen gnomAD |
|
|
CA374375528 rs1457102006 |
91 | D>G | No |
ClinGen gnomAD |
|
|
rs370467681 CA198214995 |
93 | V>A | No |
ClinGen Ensembl |
|
|
CA5170122 rs558030053 |
94 | K>T | No |
ClinGen ExAC gnomAD |
|
|
rs781302444 CA5170123 |
96 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs41316532 CA5170124 |
96 | S>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs41316532 CA374375561 |
96 | S>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs781302444 CA198214996 |
96 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA374375562 rs41316532 |
96 | S>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1378295029 CA374375567 |
97 | M>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1378295029 CA374375566 |
97 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
CA374375579 rs1444840416 |
98 | I>M | No |
ClinGen gnomAD |
|
|
CA5170125 rs769776622 |
98 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1314827337 CA374375580 |
99 | N>Y | No |
ClinGen gnomAD |
|
|
CA374375592 rs1355839675 |
100 | C>S | No |
ClinGen TOPMed gnomAD |
|
|
CA374375613 rs1227632423 |
103 | Q>E | No |
ClinGen gnomAD |
|
|
CA5170126 rs773699591 |
103 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200324817 CA5170127 |
107 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs538612432 CA5170128 |
107 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA374375651 rs1281548612 |
108 | K>N | No |
ClinGen TOPMed |
|
|
CA374375704 rs1420886453 |
114 | S>G | No |
ClinGen gnomAD |
|
|
rs781418038 CA5170146 |
114 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA374375709 rs1588955138 |
114 | S>R | No |
ClinGen Ensembl |
|
| TCGA novel | 115 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 118 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs571540973 CA198215426 |
119 | C>R | No |
ClinGen 1000Genomes TOPMed |
|
|
rs571540973 CA374375741 |
119 | C>S | No |
ClinGen 1000Genomes TOPMed |
|
|
rs1212337334 CA374375749 |
120 | N>D | No |
ClinGen gnomAD |
|
|
rs28503319 CA5170148 |
121 | N>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA374375765 rs1588955189 |
122 | A>S | No |
ClinGen Ensembl |
|
|
CA198215428 rs557473739 |
123 | L>V | No |
ClinGen 1000Genomes |
|
| TCGA novel | 128 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5170149 rs181585378 |
131 | E>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA590018100 rs1203409644 |
132 | F>S* | No |
ClinGen gnomAD |
|
|
rs117347201 CA5170150 |
133 | A>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA374375844 rs1477857415 |
134 | T>A | No |
ClinGen TOPMed |
|
|
rs555345664 CA374375847 |
134 | T>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs555345664 CA374375846 |
134 | T>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA5170151 rs555345664 |
134 | T>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA5170152 rs779425076 |
135 | R>K | No |
ClinGen ExAC gnomAD |
|
|
rs1430885214 CA374375868 |
138 | D>H | No |
ClinGen gnomAD |
|
|
rs1428990866 CA374375880 |
139 | I>M | No |
ClinGen gnomAD |
|
|
CA374375878 rs1375946425 |
139 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
CA198215431 rs1056200139 |
139 | I>V | No |
ClinGen TOPMed |
|
|
CA374375888 rs1306157749 |
140 | K>N | No |
ClinGen gnomAD |
|
|
CA374375899 rs1442737730 |
142 | P>L | No |
ClinGen gnomAD |
|
|
rs541003238 CA198215432 |
142 | P>T | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs1365766774 CA374375902 |
143 | E>K | No |
ClinGen gnomAD |
|
|
CA374375912 rs1220973093 |
144 | E>* | No |
ClinGen gnomAD |
|
|
CA374376181 rs1276558674 |
149 | A>S | No |
ClinGen TOPMed |
|
|
CA374376196 rs1208409098 |
151 | Q>R | No |
ClinGen TOPMed |
|
|
CA374376225 rs1406937685 |
155 | R>K | No |
ClinGen gnomAD |
|
|
CA374376261 rs1186737649 |
158 | M>I | No |
ClinGen gnomAD |
|
|
rs943539943 CA198216781 |
158 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1235732952 CA374376264 |
159 | A>S | No |
ClinGen gnomAD |
|
|
rs1235732952 CA374376262 |
159 | A>T | No |
ClinGen gnomAD |
|
|
CA198216782 rs976330496 |
161 | A>G | No |
ClinGen Ensembl |
|
|
CA5170170 rs746445265 |
163 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA5170171 rs372183148 |
163 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA374376290 rs372183148 |
163 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1385742976 CA374376309 |
166 | L>F | No |
ClinGen gnomAD |
|
|
rs1332690017 CA374376372 |
175 | T>A | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 175 | T>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1361416159 CA374376393 |
178 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
CA374376434 rs1288147529 |
183 | Q>L | No |
ClinGen gnomAD |
|
|
rs1303389659 CA374376487 |
190 | T>I | No |
ClinGen TOPMed |
|
|
CA374376491 rs1349066244 |
191 | L>S | No |
ClinGen gnomAD |
|
|
CA374376507 rs1436449212 |
193 | F>S | No |
ClinGen TOPMed |
|
|
rs866573728 CA198216783 |
195 | P>S | No |
ClinGen Ensembl |
|
|
CA198219459 rs1039344974 |
196 | V>D | No |
ClinGen TOPMed |
|
|
rs1564122567 CA374376585 |
197 | P>T | No |
ClinGen Ensembl |
|
|
CA374376595 rs1272605278 |
198 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
CA374376594 rs1272605278 |
198 | K>T | No |
ClinGen TOPMed gnomAD |
|
|
CA5170191 rs61996263 CA374376617 |
201 | E>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1273912997 CA374376619 |
202 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA5170192 rs754067464 |
203 | D>H | No |
ClinGen ExAC gnomAD |
|
|
rs754067464 CA374376625 |
203 | D>N | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 206 | E>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs765360764 CA5170194 |
212 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA374376704 rs1314299410 |
214 | V>A | No |
ClinGen TOPMed |
|
| TCGA novel | 214 | V>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA374376707 rs1416481228 |
215 | T>A | No |
ClinGen gnomAD |
|
|
CA374376713 rs1254946391 |
216 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
rs76381184 CA5170195 |
218 | W>L | No |
ClinGen ExAC gnomAD |
|
|
rs758870795 CA5170196 |
220 | M>K | No |
ClinGen ExAC gnomAD |
|
|
CA374376760 rs1351203302 |
222 | E>D | No |
ClinGen TOPMed |
|
|
rs1396721994 CA374376784 |
225 | N>K | No |
ClinGen TOPMed gnomAD |
|
|
rs886206834 CA198219463 |
227 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA374376803 rs1372533525 |
228 | D>G | No |
ClinGen gnomAD |
|
|
CA374376808 rs1441007876 |
229 | H>Y | No |
ClinGen gnomAD |
|
|
CA374376829 rs1303629796 |
231 | I>M | No |
ClinGen TOPMed |
|
|
rs1467453450 CA374376847 |
234 | H>R | No |
ClinGen TOPMed |
|
|
CA374376863 rs1296705332 |
236 | K>M | No |
ClinGen TOPMed gnomAD |
|
|
CA374376876 rs1339995974 |
238 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs994807149 CA374376884 |
239 | F>C | No |
ClinGen TOPMed gnomAD |
|
|
CA198219465 rs994807149 |
239 | F>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1027671562 CA198219466 |
244 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1027671562 CA374376917 |
244 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
rs747287968 CA5170198 |
249 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1201819073 CA374376953 |
250 | C>R | No |
ClinGen TOPMed |
|
|
CA374376952 rs1201819073 |
250 | C>S | No |
ClinGen TOPMed |
|
|
rs1255203894 CA374376981 |
253 | I>T | No |
ClinGen gnomAD |
|
|
rs1188022977 CA374377029 |
260 | T>A | No |
ClinGen gnomAD |
|
|
CA5170199 rs755384711 |
260 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA198219467 rs969908894 |
262 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
CA198219468 rs979985044 |
263 | T>A | No |
ClinGen TOPMed |
|
|
CA198219469 rs991555075 |
263 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1419516512 CA374322890 |
268 | K>I | No |
ClinGen gnomAD |
|
|
rs1475311532 CA374322956 |
273 | Y>C | No |
ClinGen gnomAD |
|
|
CA197408791 rs781335346 |
274 | M>I | No |
ClinGen Ensembl |
|
|
rs1158022355 CA374322966 |
274 | M>V | No |
ClinGen gnomAD |
|
|
rs1342909575 CA374323000 |
276 | F>C | No |
ClinGen TOPMed gnomAD |
|
|
CA197408798 rs1030780307 |
278 | V>A | No |
ClinGen gnomAD |
|
|
CA374323028 COSM1459137 rs1289314162 |
279 | R>* | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA374323027 rs1289314162 |
279 | R>G | No |
ClinGen gnomAD |
|
|
rs184353818 COSM1103570 CA5170203 |
279 | R>Q | endometrium [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA374323074 rs1412646992 |
283 | K>E | No |
ClinGen gnomAD |
|
|
rs1010401203 CA197408813 |
284 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1227995320 CA374323129 |
288 | E>G | No |
ClinGen gnomAD |
|
|
CA374323124 rs1261107206 |
288 | E>Q | No |
ClinGen TOPMed |
|
|
rs1318738320 CA374323140 |
289 | Y>D | No |
ClinGen gnomAD |
|
|
CA374323178 rs1255869870 |
292 | P>R | No |
ClinGen gnomAD |
|
|
CA374323247 rs1258625177 |
299 | A>T | No |
ClinGen gnomAD |
|
|
CA374324018 rs1300636957 |
301 | N>T | No |
ClinGen gnomAD |
|
|
CA374324099 rs1237121533 |
306 | N>K | No |
ClinGen gnomAD |
|
|
CA374324191 rs1341819948 |
314 | K>Q | No |
ClinGen gnomAD |
|
|
CA374324210 rs1441047262 |
315 | V>D | No |
ClinGen TOPMed |
|
|
CA374324220 rs1202883283 |
316 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA374324257 rs1589048928 |
318 | T>I | No |
ClinGen Ensembl |
|
|
CA374324270 rs1177467167 |
319 | C>F | No |
ClinGen gnomAD |
|
|
rs1481429526 CA374324265 |
319 | C>R | No |
ClinGen gnomAD |
|
|
rs1052478377 CA197410794 |
321 | E>Q | No |
ClinGen TOPMed |
|
|
rs1344879664 CA374324319 |
323 | D>H | No |
ClinGen TOPMed gnomAD |
|
|
rs920493182 CA197410798 |
324 | P>S | No |
ClinGen gnomAD |
|
|
CA374324331 rs1452093804 |
325 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1452093804 CA374324333 |
325 | T>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1175362729 CA374324335 |
325 | T>S | No |
ClinGen gnomAD |
|
|
CA197410799 rs958672864 |
332 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1356099719 CA374324381 |
332 | S>N | No |
ClinGen gnomAD |
|
|
CA197410804 rs991831541 |
334 | I>T | No |
ClinGen Ensembl |
|
|
CA589848632 rs1443208011 |
340 | K>N | No |
ClinGen gnomAD |
|
|
rs1304738203 CA374324451 |
340 | K>T | No |
ClinGen gnomAD |
|
| TCGA novel | 341 | G>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1330546367 CA374328381 |
343 | S>G | No |
ClinGen gnomAD |
|
|
CA374328393 rs1335828269 |
344 | G>A | No |
ClinGen gnomAD |
|
|
CA374328395 rs1301089621 |
345 | T>A | No |
ClinGen gnomAD |
|
|
CA374328398 rs1373137521 |
345 | T>R | No |
ClinGen gnomAD |
|
|
rs1001575339 CA197425984 |
347 | S>P | No |
ClinGen TOPMed |
|
|
rs1250527870 CA374328426 |
350 | R>* | No |
ClinGen gnomAD |
|
|
CA374328429 rs1337271918 |
350 | R>L | No |
ClinGen gnomAD |
|
|
rs1337271918 CA374328427 |
350 | R>Q | No |
ClinGen gnomAD |
|
|
rs1186848834 CA374328430 |
351 | T>P | No |
ClinGen TOPMed |
|
|
CA197425992 rs950951174 |
352 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
CA374328445 rs1487819372 |
353 | V>A | No |
ClinGen TOPMed |
|
|
rs1564148752 CA374328441 |
353 | V>I | No |
ClinGen Ensembl |
|
|
rs1468042478 CA374328449 |
354 | G>C | No |
ClinGen gnomAD |
|
|
rs771837196 CA5170228 |
355 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs771837196 CA374328457 |
355 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA374328458 rs1165332874 |
356 | R>G | No |
ClinGen gnomAD |
|
|
rs1255401845 CA374328470 |
357 | P>L | No |
ClinGen gnomAD |
|
|
rs368905368 CA5170230 |
359 | A>S | No |
ClinGen ESP ExAC |
|
|
rs769954544 CA5170231 |
364 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA374328525 rs1225381494 |
366 | R>C | No |
ClinGen TOPMed |
|
|
CA374328526 rs1371691409 |
366 | R>H | No |
ClinGen gnomAD |
|
|
rs753973732 CA197426541 |
377 | D>G | No |
ClinGen gnomAD |
|
|
CA374328639 rs1419384376 |
378 | T>A | No |
ClinGen gnomAD |
|
|
CA374328643 rs1457970091 |
378 | T>N | No |
ClinGen gnomAD |
|
|
rs777230168 CA5170241 |
380 | I>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 381 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA374328726 rs1337392378 |
382 | S>N | No |
ClinGen gnomAD |
|
|
rs1008794105 CA197426555 |
385 | H>Y | No |
ClinGen TOPMed |
|
|
CA374328882 rs1383662319 |
389 | V>F | No |
ClinGen gnomAD |
|
|
rs1231761600 CA374328903 |
390 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
rs753530325 CA5170242 |
391 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA197426563 rs759714300 |
391 | A>V | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 393 | K>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1295425295 CA374329010 |
394 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
CA374329004 rs1231677022 |
394 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1589102783 CA374329019 |
395 | C>R | No |
ClinGen Ensembl |
|
|
CA197426564 rs933791489 |
406 | T>M | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 409 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA197426589 rs995219384 |
417 | N>D | No |
ClinGen TOPMed |
|
|
CA374329521 rs1589102866 |
422 | I>V | No |
ClinGen Ensembl |
|
|
CA197426597 rs1005125160 |
424 | V>F | No |
ClinGen Ensembl |
|
|
CA374329636 rs1484933389 |
431 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1185259908 CA374329654 |
433 | A>S | No |
ClinGen gnomAD |
|
|
rs1419584563 CA374329659 |
433 | A>V | No |
ClinGen gnomAD |
|
|
CA374329687 rs1423837537 |
436 | H>Y | No |
ClinGen gnomAD |
|
|
CA374329709 rs1157768235 |
437 | N>K | No |
ClinGen gnomAD |
|
| TCGA novel | 439 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs759373578 CA197426624 |
440 | V>I | No |
ClinGen Ensembl |
|
|
CA197426661 rs771960294 |
444 | D>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5170246 rs771960294 |
444 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5170244 rs201446130 |
444 | D>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA5170245 rs201446130 |
444 | D>Y | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1159242238 CA374329820 |
446 | T>P | No |
ClinGen TOPMed gnomAD |
|
|
CA374329853 rs1412707138 |
448 | P>H | No |
ClinGen gnomAD |
|
|
rs1374622618 CA374329851 |
448 | P>S | No |
ClinGen gnomAD |
|
|
CA374329893 rs1314941016 |
451 | I>L | No |
ClinGen TOPMed gnomAD |
|
|
CA374329890 rs1314941016 |
451 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA374329910 rs1390854377 |
452 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1380200263 CA374329908 |
452 | G>S | No |
ClinGen gnomAD |
|
|
CA197426681 rs982450112 |
458 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
CA374330028 rs1280244616 |
460 | G>S | No |
ClinGen gnomAD |
|
|
CA5170251 rs773300554 |
461 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs1307344877 CA374330080 |
462 | L>F | No |
ClinGen gnomAD |
|
|
rs1307344877 CA374330081 |
462 | L>V | No |
ClinGen gnomAD |
|
|
rs1249266742 CA374330104 |
465 | Y>C | No |
ClinGen gnomAD |
|
|
CA374330102 rs1203371049 |
465 | Y>D | No |
ClinGen gnomAD |
|
|
CA197429381 rs866704083 |
466 | D>Y | No |
ClinGen Ensembl |
|
|
CA374330175 rs1186080797 |
475 | S>F | No |
ClinGen TOPMed |
|
|
rs1248235205 CA374330260 |
482 | Q>* | No |
ClinGen TOPMed |
|
| TCGA novel | 483 | P>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1425600730 CA374330353 |
489 | M>L | No |
ClinGen gnomAD |
|
|
CA374330488 rs1485391628 |
490 | V>L | No |
ClinGen gnomAD |
|
|
rs1478257522 CA374330495 |
491 | W>* | No |
ClinGen gnomAD |
|
|
rs1008339962 CA197434757 |
491 | W>R | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 492 | C>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1164551819 CA374330514 |
493 | G>V | No |
ClinGen gnomAD |
|
|
rs1463085671 CA374330553 |
499 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1181019907 CA374330549 |
499 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1463085671 CA374330552 |
499 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
CA374330579 rs1324720550 |
503 | V>F | No |
ClinGen gnomAD |
|
|
rs1324720550 CA374330578 |
503 | V>L | No |
ClinGen gnomAD |
|
|
rs1429018312 CA374330594 |
505 | S>N | No |
ClinGen gnomAD |
|
|
rs1290970861 CA374330637 |
512 | K>* | No |
ClinGen TOPMed gnomAD |
|
|
CA197434783 rs1020136408 |
513 | S>N | No |
ClinGen Ensembl |
|
|
CA374330644 rs1341578792 |
513 | S>R | No |
ClinGen gnomAD |
|
|
CA374330678 rs1187202508 |
517 | M>K | No |
ClinGen TOPMed |
|
|
rs1443352186 CA374330692 |
519 | G>V | No |
ClinGen TOPMed |
|
|
rs1218849845 CA374330704 |
521 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
rs972986077 CA197434793 |
522 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1564159601 CA374330710 |
522 | S>N | No |
ClinGen Ensembl |
|
|
rs1229555378 CA374330711 |
522 | S>R | No |
ClinGen gnomAD |
|
|
rs1290454292 CA374330735 |
526 | N>D | No |
ClinGen gnomAD |
|
|
CA374330738 rs1225563009 |
526 | N>S | No |
ClinGen TOPMed |
|
|
CA374330743 rs1156330733 |
527 | V>L | No |
ClinGen gnomAD |
|
|
rs1316238262 CA374330754 |
529 | T>P | No |
ClinGen gnomAD |
No associated diseases with Q9BXM9
9 regional properties for Q9BXM9
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | B30.2/SPRY domain | 300 - 506 | IPR001870 |
| domain | B-box, C-terminal | 36 - 162 | IPR003649 |
| domain | SPRY domain | 382 - 503 | IPR003877 |
| domain | Butyrophylin-like, SPRY domain | 298 - 315 | IPR003879-1 |
| domain | Butyrophylin-like, SPRY domain | 442 - 466 | IPR003879-2 |
| domain | Butyrophylin-like, SPRY domain | 472 - 490 | IPR003879-3 |
| domain | Fibronectin type III | 196 - 300 | IPR003961 |
| domain | COS domain | 137 - 194 | IPR017903 |
| domain | Fibronectin type III and SPRY containing 1, PRY/SPRY domain | 302 - 505 | IPR035742 |
No GO annotations of cellular component
| Name | Definition |
|---|---|
| No GO annotations for cellular component |
No GO annotations of molecular function
| Name | Definition |
|---|---|
| No GO annotations for molecular function |
No GO annotations of biological process
| Name | Definition |
|---|---|
| No GO annotations for biological process |
46 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q5E9G4 | TRIM10 | Tripartite motif-containing protein 10 | Bos taurus (Bovine) | PR |
| Q2T9Z0 | TRIM17 | E3 ubiquitin-protein ligase TRIM17 | Bos taurus (Bovine) | PR |
| E1BJS7 | TRIM71 | E3 ubiquitin-protein ligase TRIM71 | Bos taurus (Bovine) | PR |
| Q7YRV4 | TRIM21 | E3 ubiquitin-protein ligase TRIM21 | Bos taurus (Bovine) | PR |
| Q1PRL4 | TRIM71 | E3 ubiquitin-protein ligase TRIM71 | Gallus gallus (Chicken) | PR |
| Q7YR32 | TRIM10 | Tripartite motif-containing protein 10 | Pan troglodytes (Chimpanzee) | PR |
| O15553 | MEFV | Pyrin | Homo sapiens (Human) | SS |
| Q9H2S5 | RNF39 | RING finger protein 39 | Homo sapiens (Human) | PR |
| P19474 | TRIM21 | E3 ubiquitin-protein ligase TRIM21 | Homo sapiens (Human) | PR |
| P29590 | PML | Protein PML | Homo sapiens (Human) | PR |
| Q9C029 | TRIM7 | E3 ubiquitin-protein ligase TRIM7 | Homo sapiens (Human) | PR |
| Q86UV6 | TRIM74 | Tripartite motif-containing protein 74 | Homo sapiens (Human) | PR |
| Q9UPQ4 | TRIM35 | E3 ubiquitin-protein ligase TRIM35 | Homo sapiens (Human) | PR |
| Q6ZMU5 | TRIM72 | Tripartite motif-containing protein 72 | Homo sapiens (Human) | PR |
| Q86UV7 | TRIM73 | Tripartite motif-containing protein 73 | Homo sapiens (Human) | PR |
| Q8N9V2 | TRIML1 | Probable E3 ubiquitin-protein ligase TRIML1 | Homo sapiens (Human) | PR |
| Q86XT4 | TRIM50 | E3 ubiquitin-protein ligase TRIM50 | Homo sapiens (Human) | PR |
| Q5EBN2 | TRIM61 | Putative tripartite motif-containing protein 61 | Homo sapiens (Human) | PR |
| Q9BZY9 | TRIM31 | E3 ubiquitin-protein ligase TRIM31 | Homo sapiens (Human) | PR |
| Q2Q1W2 | TRIM71 | E3 ubiquitin-protein ligase TRIM71 | Homo sapiens (Human) | PR |
| Q9BTV5 | FSD1 | Fibronectin type III and SPRY domain-containing protein 1 | Homo sapiens (Human) | PR |
| Q9NQ86 | TRIM36 | E3 ubiquitin-protein ligase TRIM36 | Homo sapiens (Human) | PR |
| Q9UJV3 | MID2 | Probable E3 ubiquitin-protein ligase MID2 | Homo sapiens (Human) | PR |
| Q9WUH5 | Trim10 | Tripartite motif-containing protein 10 | Mus musculus (Mouse) | PR |
| Q8BZT2 | Sh3rf2 | E3 ubiquitin-protein ligase SH3RF2 | Mus musculus (Mouse) | PR |
| Q7TPM3 | Trim17 | E3 ubiquitin-protein ligase TRIM17 | Mus musculus (Mouse) | PR |
| Q1XH17 | Trim72 | Tripartite motif-containing protein 72 | Mus musculus (Mouse) | PR |
| Q60953 | Pml | Protein PML | Mus musculus (Mouse) | PR |
| Q9JJ26 | Mefv | Pyrin | Mus musculus (Mouse) | SS |
| Q99PQ1 | Trim12a | Tripartite motif-containing protein 12A | Mus musculus (Mouse) | PR |
| Q61510 | Trim25 | E3 ubiquitin/ISG15 ligase TRIM25 | Mus musculus (Mouse) | PR |
| Q810I2 | Trim50 | E3 ubiquitin-protein ligase TRIM50 | Mus musculus (Mouse) | PR |
| Q1PSW8 | Trim71 | E3 ubiquitin-protein ligase TRIM71 | Mus musculus (Mouse) | PR |
| Q3TL54 | Trim43a | Tripartite motif-containing protein 43A | Mus musculus (Mouse) | PR |
| P86449 | Trim43c | Tripartite motif-containing protein 43C | Mus musculus (Mouse) | PR |
| O77666 | TRIM26 | Tripartite motif-containing protein 26 | Sus scrofa (Pig) | PR |
| O19085 | TRIM10 | Tripartite motif-containing protein 10 | Sus scrofa (Pig) | PR |
| Q865W2 | TRIM50 | E3 ubiquitin-protein ligase TRIM50 | Sus scrofa (Pig) | PR |
| Q920M2 | Rnf39 | RING finger protein 39 | Rattus norvegicus (Rat) | PR |
| Q9JJ25 | Mefv | Pyrin | Rattus norvegicus (Rat) | SS |
| A0JPQ4 | Trim72 | Tripartite motif-containing protein 72 | Rattus norvegicus (Rat) | PR |
| Q810I1 | Trim50 | E3 ubiquitin-protein ligase TRIM50 | Rattus norvegicus (Rat) | PR |
| D3ZVM4 | Trim71 | E3 ubiquitin-protein ligase TRIM71 | Rattus norvegicus (Rat) | PR |
| F6QEU4 | trim71 | E3 ubiquitin-protein ligase TRIM71 | Xenopus tropicalis (Western clawed frog) (Silurana tropicalis) | PR |
| Q640S6 | trim72 | Tripartite motif-containing protein 72 | Xenopus tropicalis (Western clawed frog) (Silurana tropicalis) | PR |
| E7FAM5 | trim71 | E3 ubiquitin-protein ligase TRIM71 | Danio rerio (Zebrafish) (Brachydanio rerio) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MDSQKYCFKE | NENVTVDKAC | FLISNITIGP | ESINLQQEAL | QRIISTLANK | NDEIQNFIDT |
| 70 | 80 | 90 | 100 | 110 | 120 |
| LHHTLKGVQE | NSSNILSELD | EEFDSLYSIL | DEVKESMINC | IKQEQARKSQ | ELQSQISQCN |
| 130 | 140 | 150 | 160 | 170 | 180 |
| NALENSEELL | EFATRSLDIK | EPEEFSKAAR | QIKDRVTMAS | AFRLSLKPKV | SDNMTHLMVD |
| 190 | 200 | 210 | 220 | 230 | 240 |
| FSQERQMLQT | LKFLPVPKAP | EIDPVECLVA | DNSVTVAWRM | PEEDNKIDHF | ILEHRKTNFD |
| 250 | 260 | 270 | 280 | 290 | 300 |
| GLPRVKDERC | WEIIDNIKGT | EYTLSGLKFD | SKYMNFRVRA | CNKAVAGEYS | DPVTLETKAL |
| 310 | 320 | 330 | 340 | 350 | 360 |
| NFNLDNSSSH | LNLKVEDTCV | EWDPTGGKGQ | ESKIKGKENK | GRSGTPSPKR | TSVGSRPPAV |
| 370 | 380 | 390 | 400 | 410 | 420 |
| RGSRDRFTGE | SYTVLGDTAI | ESGQHYWEVK | AQKDCKSYSV | GVAYKTLGKF | DQLGKTNTSW |
| 430 | 440 | 450 | 460 | 470 | 480 |
| CIHVNNWLQN | TFAAKHNNKV | KALDVTVPEK | IGVFCDFDGG | QLSFYDANSK | QLLYSFKTKF |
| 490 | 500 | 510 | 520 | ||
| TQPVLPGFMV | WCGGLSLSTG | MQVPSAVRTL | QKSENGMTGS | ASSLNNVVTQ |