Q9BT09
PR
Gene name |
CNPY3 (CTG4A, ERDA5, PRAT4A, TNRC5) |
Protein name |
Protein canopy homolog 3 |
Names |
CTG repeat protein 4a, Expanded repeat-domain protein CAG/CTG 5, Protein associated with TLR4, Trinucleotide repeat-containing gene 5 protein |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:10695 |
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 Q9BT09
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q9BT09-F1 | Predicted | AlphaFoldDB |
213 variants for Q9BT09
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA3810392 RCV003169545 RCV001329586 COSM1201632 rs375546787 |
67 | G>S | large_intestine Developmental and epileptic encephalopathy, 60 Inborn genetic diseases [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs761023974 COSM1079377 CA3810442 RCV001089721 |
121 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine endometrium Developmental and epileptic encephalopathy, 60 [NCI-TCGA, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
RCV000615970 VAR_080491 CA364183152 rs1554292759 |
125 | G>R | Developmental and epileptic encephalopathy, 60 DEE60; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs1768394971 RCV001089720 |
210 | Q>* | Developmental and epileptic encephalopathy, 60 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA3810518 rs375246952 RCV001334568 |
213 | G>S | Variant assessed as Somatic; 0.0 impact. Developmental and epileptic encephalopathy, 60 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs1768399256 RCV001329587 |
225 | K>R | Developmental and epileptic encephalopathy, 60 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000604665 rs1554123960 |
241 | S>GSRRQE* | Developmental and epileptic encephalopathy, 60 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001199204 rs1197219692 |
245 | Q>missing | Developmental and epileptic encephalopathy, 60 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs566176543 CA364175216 |
2 | D>E | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA364175194 rs1199761867 |
2 | D>H | No |
ClinGen gnomAD |
|
|
CA364175204 rs1430965778 |
2 | D>V | No |
ClinGen TOPMed gnomAD |
|
|
rs372019066 CA138245948 CA138245954 |
4 | M>I | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA3810343 COSM1194589 rs771045839 |
4 | M>V | lung [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA138245959 rs747789716 |
6 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
rs776262349 CA3810344 |
7 | P>H | No |
ClinGen ExAC |
|
|
CA3810345 rs534665673 |
8 | A>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA364175362 rs1304053914 |
9 | S>A | No |
ClinGen gnomAD |
|
|
rs769648687 CA138245964 |
10 | R>S | No |
ClinGen Ensembl |
|
|
CA364175403 rs1390042466 |
11 | C>Y | No |
ClinGen gnomAD |
|
|
rs764751171 CA3810346 |
12 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA3810347 rs764751171 |
12 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA364175448 rs1241746550 |
14 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA364175451 rs1290194677 |
14 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
CA3810349 rs763590699 |
15 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs936995390 CA138245981 |
15 | L>P | No |
ClinGen TOPMed |
|
|
CA364175735 rs1270608363 |
16 | P>L | No |
ClinGen gnomAD |
|
|
rs1222563565 CA364175731 |
16 | P>S | No |
ClinGen gnomAD |
|
|
rs751118065 CA3810357 |
18 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 19 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1292446751 CA364175767 |
19 | L>P | No |
ClinGen TOPMed |
|
|
CA3810358 rs756581137 |
20 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1472497910 CA364175795 |
21 | L>P | No |
ClinGen TOPMed |
|
|
rs995251143 CA138246014 |
23 | L>P | No |
ClinGen TOPMed |
|
|
CA364175820 rs1184695239 |
24 | L>R | No |
ClinGen TOPMed |
|
|
CA3810361 rs754100941 |
25 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs1393473002 CA364175836 |
26 | P>L | No |
ClinGen gnomAD |
|
|
CA364175839 rs1393473002 |
26 | P>R | No |
ClinGen gnomAD |
|
|
CA138246022 rs1000205950 |
26 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs755380765 CA3810362 |
27 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755380765 CA364175842 |
27 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA138246029 rs893968032 |
27 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1293268326 CA364175859 |
28 | P>L | No |
ClinGen gnomAD |
|
|
CA364175857 rs1293268326 |
28 | P>R | No |
ClinGen gnomAD |
|
|
CA364175863 rs548586566 |
29 | E>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA3810363 rs548586566 |
29 | E>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA138246063 rs947154615 |
32 | P>R | No |
ClinGen gnomAD |
|
|
CA364175913 rs1181513435 |
33 | S>G | No |
ClinGen gnomAD |
|
|
CA364175916 rs1242472696 |
33 | S>N | No |
ClinGen gnomAD |
|
|
rs1181513435 CA364175912 |
33 | S>R | No |
ClinGen gnomAD |
|
|
CA138246067 rs1023421246 |
33 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
CA364175923 rs1487384939 |
34 | Q>E | No |
ClinGen TOPMed gnomAD |
|
|
rs777982533 CA3810367 |
36 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758747229 CA3810366 |
36 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs963890660 CA138246076 |
39 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA138246080 rs561265215 |
41 | D>E | No |
ClinGen Ensembl |
|
|
CA364176032 rs1170063063 |
41 | D>N | No |
ClinGen gnomAD |
|
|
CA364176047 rs1355334320 |
41 | D>V | No |
ClinGen gnomAD |
|
|
rs747129286 CA3810368 |
43 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA3810369 rs770954084 |
45 | L>R | No |
ClinGen ExAC |
|
|
rs1335059212 CA364176120 |
46 | P>S | No |
ClinGen gnomAD |
|
|
rs557189734 CA3810371 |
47 | S>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1286445115 CA364176158 |
48 | K>E | No |
ClinGen gnomAD |
|
|
rs772821931 CA364176210 |
50 | E>* | No |
ClinGen gnomAD |
|
|
CA138246106 rs772821931 |
50 | E>K | No |
ClinGen gnomAD |
|
|
CA364176217 rs1295924097 |
50 | E>V | No |
ClinGen gnomAD |
|
|
rs1308837306 CA364176227 |
51 | V>L | No |
ClinGen gnomAD |
|
|
rs201250569 CA138248777 |
52 | C>R | No |
ClinGen 1000Genomes |
|
| TCGA novel | 55 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA364177830 rs1406431527 |
56 | A>T | No |
ClinGen gnomAD |
|
|
CA364177873 rs1581708871 |
57 | V>A | No |
ClinGen Ensembl |
|
|
CA364178107 rs1159225007 |
63 | F>S | No |
ClinGen gnomAD |
|
|
rs779866489 CA3810390 |
65 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1364763897 CA364178206 |
66 | T>A | No |
ClinGen TOPMed |
|
|
rs1438348706 CA364178297 |
68 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
CA364178336 rs1349894425 |
69 | T>A | No |
ClinGen gnomAD |
|
|
rs1339036457 CA364178396 |
70 | K>R | No |
ClinGen TOPMed |
|
|
CA364178480 rs1224315926 |
72 | V>A | No |
ClinGen gnomAD |
|
|
rs755208427 COSM1079372 CA3810395 |
75 | T>M | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA3810397 rs760063356 |
76 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3810399 rs753075646 |
79 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs751837391 COSM1329679 CA3810402 RCV001310919 |
81 | D>E | ovary Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA3810401 rs374422440 |
81 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs781319933 CA3810404 |
82 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757490459 CA3810403 |
82 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1050096392 CA138248845 |
83 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
rs750518549 CA3810405 |
84 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1319645436 CA364179238 |
90 | T>I | No |
ClinGen gnomAD |
|
|
rs556172653 CA3810408 |
92 | S>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs779877202 CA3810407 |
92 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA364180033 rs1430096184 |
95 | R>G | No |
ClinGen TOPMed |
|
|
CA138249269 rs34394157 |
95 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
rs34394157 CA364180053 |
95 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA364180050 rs1430096184 |
95 | R>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA3810430 rs747974124 |
96 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs758033090 CA3810431 |
97 | I>S | No |
ClinGen ExAC gnomAD |
|
|
CA3810433 rs746471637 COSM1079376 |
98 | E>K | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA364180311 rs1190324358 |
102 | T>N | No |
ClinGen gnomAD |
|
|
rs770354202 CA3810434 |
103 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs749800798 CA3810436 |
105 | K>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3810435 rs200837590 |
105 | K>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1322339827 CA364180518 |
106 | R>K | No |
ClinGen TOPMed |
|
|
CA364180771 rs1469073961 |
110 | Y>C | No |
ClinGen gnomAD |
|
|
CA3810437 rs779207999 |
111 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs1224781544 CA364181230 |
116 | R>S | No |
ClinGen TOPMed |
|
|
rs767720442 CA3810440 |
118 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3810441 rs773308781 |
120 | N>D | No |
ClinGen ExAC gnomAD |
|
|
rs1280297254 CA364181427 |
120 | N>S | No |
ClinGen gnomAD |
|
|
rs1168099166 CA364181474 |
121 | R>* | No |
ClinGen gnomAD |
|
|
CA364183266 rs1269256016 CA364183260 |
126 | M>I | No |
ClinGen gnomAD |
|
|
rs202056325 CA3810460 |
128 | E>D | No |
ClinGen 1000Genomes ExAC |
|
|
rs1320044871 CA364183466 |
129 | T>I | No |
ClinGen TOPMed |
|
|
rs1417046935 CA364183514 |
130 | F>L | No |
ClinGen gnomAD |
|
|
CA3810461 rs776648420 |
134 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA364183796 rs1309286461 |
135 | N>H | No |
ClinGen TOPMed gnomAD |
|
|
CA3810462 rs759637866 |
135 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752585500 CA3810464 |
137 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs763017290 CA3810465 |
138 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs112993809 CA138249954 |
142 | K>E | No |
ClinGen TOPMed |
|
|
CA364184179 rs1370232102 |
142 | K>R | No |
ClinGen gnomAD |
|
|
rs756941200 CA3810468 |
144 | V>L | No |
ClinGen ExAC gnomAD |
|
|
VAR_037731 CA138249957 rs1063252 |
145 | M>I | No |
ClinGen UniProt Ensembl dbSNP |
|
|
rs1063251 CA138249955 |
145 | M>K | No |
ClinGen Ensembl |
|
|
CA3810469 rs781025064 |
146 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
CA3810471 rs755688597 |
147 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749894445 CA3810470 |
147 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA3810473 rs748588175 |
148 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1245811106 CA364184503 |
149 | Y>C | No |
ClinGen TOPMed |
|
|
rs772680123 CA3810474 |
149 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA3810476 rs747428679 |
151 | L>M | No |
ClinGen ExAC gnomAD |
|
|
CA364184697 COSM1444594 rs1238716233 |
153 | N>S | large_intestine [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs776855414 CA3810478 COSM1079378 |
154 | E>K | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs1383520143 CA364185807 |
156 | S>F | No |
ClinGen gnomAD |
|
|
rs759547909 CA3810479 |
162 | L>I | No |
ClinGen ExAC gnomAD |
|
|
rs895331777 CA138249964 |
162 | L>R | No |
ClinGen Ensembl |
|
|
rs1424855604 CA364186656 |
170 | V>M | No |
ClinGen gnomAD |
|
|
rs1235103382 CA364186676 |
171 | E>K | No |
ClinGen TOPMed |
|
|
CA364186769 rs1307249490 |
173 | F>I | No |
ClinGen TOPMed |
|
|
CA364186902 rs1359031926 |
176 | V>A | No |
ClinGen gnomAD |
|
|
rs781608684 CA3810496 |
176 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs770105044 CA364186966 |
178 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770105044 CA3810498 |
178 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1359454706 CA364187064 |
180 | W>R | No |
ClinGen gnomAD |
|
|
rs1213678675 CA364187243 |
182 | R>S | No |
ClinGen gnomAD |
|
|
CA364187389 rs1413936232 |
184 | H>D | No |
ClinGen TOPMed |
|
|
CA364187424 rs1581718428 |
184 | H>Q | No |
ClinGen Ensembl |
|
|
CA364187437 rs1278402434 |
185 | Q>* | No |
ClinGen gnomAD |
|
|
rs775401341 CA3810499 |
185 | Q>L | No |
ClinGen ExAC |
|
|
CA364187505 rs1319814635 |
186 | E>D | No |
ClinGen gnomAD |
|
|
rs1221454086 CA364187556 |
187 | E>D | No |
ClinGen gnomAD |
|
|
CA3810500 rs749418527 |
188 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA3810501 rs768430673 |
189 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1562546189 CA364187657 |
190 | T>A | No |
ClinGen Ensembl |
|
|
CA364187757 rs1484923440 |
192 | F>L | No |
ClinGen gnomAD |
|
|
CA364187819 rs1264149353 |
195 | A>T | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 196 | N>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs142296062 CA3810505 |
198 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs142296062 CA3810504 |
198 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1178840666 CA364188127 |
201 | G>E | No |
ClinGen gnomAD |
|
|
CA138250022 rs763223799 |
202 | K>R | No |
ClinGen Ensembl |
|
|
rs111548079 CA138250024 |
203 | D>G | No |
ClinGen Ensembl |
|
|
CA138250027 rs984541975 |
204 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1418576477 CA364188782 |
206 | C>* | No |
ClinGen gnomAD |
|
|
rs1362103001 CA364188978 |
210 | Q>R | No |
ClinGen gnomAD |
|
|
rs756251267 CA3810516 |
211 | W>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1438327116 CA364189205 |
215 | K>T | No |
ClinGen gnomAD |
|
|
rs768775544 CA3810519 |
216 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3810520 rs140628883 |
217 | D>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3810522 rs147735655 |
220 | A>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3810521 rs147735655 |
220 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs765887645 CA138250089 |
223 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs760537930 COSM451482 CA3810524 |
223 | G>R | breast [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs765887645 CA3810525 |
223 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA3810527 rs759180897 |
224 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA3810528 rs193021383 |
226 | S>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3810529 rs752257311 |
226 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3810530 rs752257311 |
226 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1442211047 CA364189776 |
227 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
CA3810532 rs768042941 |
231 | S>C | No |
ClinGen ExAC gnomAD |
|
|
VAR_037732 CA3810533 rs9471969 |
231 | S>I | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA138250090 rs577182193 |
232 | R>M | No |
ClinGen ExAC gnomAD |
|
|
CA3810534 rs577182193 |
232 | R>T | No |
ClinGen ExAC gnomAD |
|
|
rs371606876 CA3810536 |
238 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA364190160 rs1179843165 |
239 | R>G | No |
ClinGen TOPMed |
|
|
rs1010647785 CA138250091 |
239 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
CA3810537 rs746693743 |
241 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 243 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs756925011 CA3810540 |
251 | G>C | No |
ClinGen ExAC TOPMed |
|
|
CA364190725 rs1213762982 |
255 | D>A | No |
ClinGen TOPMed |
|
|
CA364190731 rs868395570 |
255 | D>E | No |
ClinGen gnomAD |
|
|
rs1213762982 CA364190721 |
255 | D>G | No |
ClinGen TOPMed |
|
|
rs374869606 CA3810541 |
256 | P>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs146664776 CA3810542 |
259 | E>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs567190082 CA3810543 |
262 | E>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1336754196 CA364191120 |
263 | G>S | No |
ClinGen TOPMed |
|
|
rs776350885 CA3810544 |
264 | I>N | No |
ClinGen ExAC gnomAD |
|
|
CA3810546 rs769480238 |
267 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs762473290 CA3810548 |
268 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA138250095 rs1055503092 |
269 | P>L | No |
ClinGen TOPMed |
|
|
CA3810549 rs767956827 |
270 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA3810551 rs750935131 |
271 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs200549681 CA3810552 |
272 | H>Q | No |
ClinGen 1000Genomes ExAC |
|
|
rs1403743278 CA364191472 |
272 | H>Y | No |
ClinGen gnomAD |
|
|
rs1561802037 CA364191523 |
273 | S>N | No |
ClinGen Ensembl |
|
|
rs1394369375 CA364191555 |
273 | S>R | No |
ClinGen gnomAD |
|
|
rs1333545225 CA364191558 |
274 | P>A | No |
ClinGen gnomAD |
|
|
CA364191557 rs1333545225 |
274 | P>T | No |
ClinGen gnomAD |
|
|
CA3810554 rs766741461 |
275 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3810555 rs549629737 |
275 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3810556 rs549629737 |
275 | P>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3810553 rs766741461 |
275 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA364191575 rs766741461 |
275 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1034954308 CA138250096 |
277 | E>D | No |
ClinGen Ensembl |
|
| TCGA novel | 278 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
1 associated diseases with Q9BT09
[MIM: 617929]: Developmental and epileptic encephalopathy 60 (DEE60)
A form of epileptic encephalopathy, a heterogeneous group of severe early-onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. DEE60 is an autosomal recessive condition characterized by onset of seizures in the first months of life. {ECO:0000269|PubMed:29394991}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- A form of epileptic encephalopathy, a heterogeneous group of severe early-onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. DEE60 is an autosomal recessive condition characterized by onset of seizures in the first months of life. {ECO:0000269|PubMed:29394991}. Note=The disease is caused by variants affecting the gene represented in this entry.
1 regional properties for Q9BT09
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Domain of unknown function DUF3456 | 48 - 204 | IPR021852 |
1 GO annotations of cellular component
| Name | Definition |
|---|---|
| endoplasmic reticulum lumen | The volume enclosed by the membranes of the endoplasmic reticulum. |
1 GO annotations of molecular function
| Name | Definition |
|---|---|
| signaling receptor binding | Binding to one or more specific sites on a receptor molecule, a macromolecule that undergoes combination with a hormone, neurotransmitter, drug or intracellular messenger to initiate a change in cell function. |
1 GO annotations of biological process
| Name | Definition |
|---|---|
| innate immune response | Innate immune responses are defense responses mediated by germline encoded components that directly recognize components of potential pathogens. |
4 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q0P5N1 | CNPY3 | Protein canopy homolog 3 | Bos taurus (Bovine) | PR |
| Q8BQ47 | Cnpy4 | Protein canopy homolog 4 | Mus musculus (Mouse) | PR |
| A5GFQ5 | CNPY3 | Protein canopy homolog 3 | Sus scrofa (Pig) | PR |
| A3KNS2 | cnpy3 | Protein canopy homolog 3 | Danio rerio (Zebrafish) (Brachydanio rerio) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MDSMPEPASR | CLLLLPLLLL | LLLLLPAPEL | GPSQAGAEEN | DWVRLPSKCE | VCKYVAVELK |
| 70 | 80 | 90 | 100 | 110 | 120 |
| SAFEETGKTK | EVIGTGYGIL | DQKASGVKYT | KSDLRLIEVT | ETICKRLLDY | SLHKERTGSN |
| 130 | 140 | 150 | 160 | 170 | 180 |
| RFAKGMSETF | ETLHNLVHKG | VKVVMDIPYE | LWNETSAEVA | DLKKQCDVLV | EEFEEVIEDW |
| 190 | 200 | 210 | 220 | 230 | 240 |
| YRNHQEEDLT | EFLCANHVLK | GKDTSCLAEQ | WSGKKGDTAA | LGGKKSKKKS | SRAKAAGGRS |
| 250 | 260 | 270 | |||
| SSSKQRKELG | GLEGDPSPEE | DEGIQKASPL | THSPPDEL |