Q96GY3
Gene name |
LIN37 (MSTP064) |
Protein name |
Protein lin-37 homolog |
Names |
Antolefinin |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:55957 |
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 Q96GY3
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 7N40 | X-ray | 255 A | C | 92-130 | PDB |
| 7R1D | EM | 350 A | B | 1-246 | PDB |
| AF-Q96GY3-F1 | Predicted | AlphaFoldDB |
212 variants for Q96GY3
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA405464321 rs764344868 |
5 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9387102 rs751636541 |
6 | V>E | No |
ClinGen ExAC |
|
|
CA9387103 rs757343727 |
10 | K>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9387104 rs757343727 |
10 | K>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9387124 rs767651009 |
13 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1599736570 CA405464490 |
14 | E>Q | No |
ClinGen Ensembl |
|
|
rs1027877971 CA307814718 |
15 | M>I | No |
ClinGen Ensembl |
|
|
rs1348237650 CA405464499 |
15 | M>L | No |
ClinGen Ensembl |
|
|
rs1163284434 CA405464502 |
15 | M>T | No |
ClinGen gnomAD |
|
|
CA405464507 rs170758 |
16 | A>D | No |
ClinGen 1000Genomes ESP ExAC gnomAD |
|
|
rs796989672 CA307814725 |
16 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs170758 VAR_061674 CA307814733 |
16 | A>V | No |
ClinGen UniProt 1000Genomes ESP ExAC dbSNP gnomAD |
|
|
rs756723431 CA405464520 |
18 | A>D | No |
ClinGen ExAC gnomAD |
|
|
CA9387126 rs756723431 |
18 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs913798209 CA307814738 |
19 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs766965615 CA9387127 |
19 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9387129 rs201196330 |
23 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1291896412 CA405464574 |
27 | Q>* | No |
ClinGen gnomAD |
|
|
rs200797120 CA9387132 |
27 | Q>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9387131 rs747842588 |
27 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9387133 rs530617326 |
31 | E>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs746490365 CA9387134 |
32 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA307814764 rs1019128813 |
34 | H>P | No |
ClinGen gnomAD |
|
|
CA9387136 rs768495288 |
35 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs552333590 CA9387137 |
36 | D>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9387138 rs552333590 |
36 | D>Y | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA405464641 rs775087716 |
37 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9387139 rs775087716 |
37 | R>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA405464642 rs775087716 |
37 | R>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1416847106 CA405464657 |
38 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs369644711 CA9387156 |
39 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA gnomAD |
|
CA9387157 rs374032128 |
39 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 41 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA405464684 rs1220591594 |
42 | E>* | No |
ClinGen gnomAD |
|
|
rs772392149 CA9387159 |
46 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs937593176 CA307814993 |
47 | T>I | No |
ClinGen Ensembl |
|
|
CA9387160 rs773555458 |
48 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA405464724 rs1599736781 |
48 | P>S | No |
ClinGen Ensembl |
|
|
rs760905984 CA9387161 |
49 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771141743 CA9387162 |
51 | T>N | No |
ClinGen ExAC gnomAD |
|
|
CA405464810 rs1331459394 |
55 | D>N | No |
ClinGen TOPMed |
|
|
rs775852779 CA9387183 |
58 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9387182 rs770389464 |
58 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs755361259 CA9387186 |
59 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA405464864 rs1388539586 |
59 | A>V | No |
ClinGen gnomAD |
|
|
CA405464902 rs1339381938 |
64 | R>G | No |
ClinGen gnomAD |
|
|
CA307815442 rs1033287559 |
68 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
rs200474658 CA9387198 |
68 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9387200 rs746027206 |
69 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA9387199 rs781257135 |
69 | F>Y | No |
ClinGen ExAC gnomAD |
|
|
rs991799359 CA307815462 |
70 | P>A | No |
ClinGen Ensembl |
|
|
CA9387201 rs769764210 |
71 | H>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1288376443 CA405464988 |
71 | H>R | No |
ClinGen gnomAD |
|
|
rs775578498 CA9387202 |
72 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA405464994 rs1309307099 |
72 | Q>K | No |
ClinGen TOPMed |
|
|
CA405465009 rs1599737159 |
73 | R>Q | No |
ClinGen Ensembl |
|
|
rs1199884175 CA405465007 |
73 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
CA405465056 rs1254175311 |
77 | R>M | No |
ClinGen gnomAD |
|
| TCGA novel | 80 | M>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs545882957 CA9387203 |
80 | M>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1188149943 CA405465096 |
81 | D>N | No |
ClinGen gnomAD |
|
|
CA405465121 rs1379670338 |
83 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs769110063 CA9387204 |
87 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA405465172 rs1465249970 |
88 | G>E | No |
ClinGen gnomAD |
|
|
CA405465170 rs1360717783 |
88 | G>R | No |
ClinGen gnomAD |
|
|
rs774739431 CA9387205 |
89 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 91 | R>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1396151979 CA405465201 |
91 | R>Q | No |
ClinGen gnomAD |
|
|
rs1204023024 CA405465259 |
94 | T>R | No |
ClinGen Ensembl |
|
|
CA405465267 rs1229344084 |
95 | Y>* | No |
ClinGen TOPMed |
|
| TCGA novel | 96 | V>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA307815585 rs1004672705 |
101 | D>E | No |
ClinGen TOPMed |
|
|
rs370575872 CA405465324 |
101 | D>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9387216 rs370575872 |
101 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9387217 rs567934409 |
102 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1224150015 CA405465341 |
103 | S>C | No |
ClinGen gnomAD |
|
|
rs902054109 CA307815591 |
103 | S>I | No |
ClinGen Ensembl |
|
|
rs373853183 CA9387219 |
103 | S>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA405465349 rs1315920074 COSM3198708 |
104 | V>M | ovary Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs1200455656 CA405465361 |
105 | D>Y | No |
ClinGen gnomAD |
|
|
rs749336766 CA405465379 CA9387220 |
106 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs1226191339 CA405465384 |
107 | A>P | No |
ClinGen gnomAD |
|
|
rs1488024385 CA405465390 |
107 | A>V | No |
ClinGen gnomAD |
|
|
rs1189275522 CA405465423 |
110 | S>N | No |
ClinGen gnomAD |
|
|
rs367706790 CA9387222 |
110 | S>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9387224 rs772332523 |
111 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA9387223 rs748579282 |
111 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs773570913 CA9387225 |
112 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760270852 CA9387226 |
113 | T>M | No |
ClinGen ExAC gnomAD |
|
|
rs776327934 CA9387228 |
114 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1292175813 CA405465488 |
117 | P>A | No |
ClinGen gnomAD |
|
|
rs1292175813 CA405465489 |
117 | P>S | No |
ClinGen gnomAD |
|
|
rs1405791774 CA405465512 |
119 | C>Y | No |
ClinGen gnomAD |
|
|
rs1277863212 CA405465521 |
120 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
rs765329144 CA9387230 |
120 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1277863212 CA405465520 |
120 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
CA9387232 rs762926010 |
121 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9387233 rs762926010 |
121 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs780422741 CA307815692 |
123 | M>I | No |
ClinGen gnomAD |
|
|
CA9387235 rs376762591 |
124 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs368622689 CA9387236 |
124 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs753978779 CA9387237 |
125 | N>T | No |
ClinGen ExAC gnomAD |
|
|
rs372661681 CA9387238 |
127 | P>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA405465603 rs1478503569 |
127 | P>L | No |
ClinGen gnomAD |
|
|
CA405465597 rs372661681 |
127 | P>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1599737378 CA405465612 |
128 | S>F | No |
ClinGen Ensembl |
|
|
rs778897894 CA9387239 |
129 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs865895826 CA307815712 |
130 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA9387241 rs201290153 COSM1195060 |
130 | R>H | lung [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA405465636 rs1297801244 |
131 | E>G | No |
ClinGen gnomAD |
|
|
rs550629242 CA307815724 |
131 | E>K | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA9387242 rs778033607 |
132 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs199605769 CA9387244 |
132 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs199605769 CA9387245 |
132 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9387243 rs778033607 |
132 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1259117802 CA405465676 |
135 | S>C | No |
ClinGen Ensembl |
|
|
CA307815736 rs796089363 |
136 | P>T | No |
ClinGen gnomAD |
|
|
rs1270853130 CA405465697 |
137 | S>R | No |
ClinGen gnomAD |
|
|
CA405465704 rs1378278044 |
138 | S>A | No |
ClinGen gnomAD |
|
|
CA307815739 rs569205978 |
139 | P>T | No |
ClinGen 1000Genomes gnomAD |
|
|
rs769861276 CA307815768 |
142 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA307815759 rs769861276 |
142 | P>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA9387247 rs769442767 |
142 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs566447622 CA307815770 |
143 | L>M | No |
ClinGen TOPMed gnomAD |
|
|
rs972713262 CA307815779 |
144 | P>L | No |
ClinGen TOPMed |
|
|
rs1215797252 CA405465773 |
146 | D>A | No |
ClinGen gnomAD |
|
|
rs1442706692 CA405465924 |
151 | E>D | No |
ClinGen gnomAD |
|
|
CA9387264 rs781639375 |
152 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs745537884 CA9387265 |
153 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA9387266 rs769530810 |
158 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs369546658 CA9387267 |
158 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs369546658 CA9387268 |
158 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA405465973 rs1352255729 |
159 | D>Y | No |
ClinGen TOPMed |
|
|
CA9387269 rs200329090 |
160 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1377666079 CA405465992 |
162 | K>Q | No |
ClinGen TOPMed |
|
|
CA405466000 rs1198567439 |
163 | L>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1361108262 CA405466010 |
164 | P>L | No |
ClinGen TOPMed |
|
| TCGA novel | 165 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA405466021 rs1246304025 |
166 | P>L | No |
ClinGen gnomAD |
|
|
CA9387272 rs767314398 |
166 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA9387273 rs772947202 |
168 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA405466029 rs772947202 |
168 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA307816224 rs1030391019 |
169 | P>L | No |
ClinGen gnomAD |
|
|
rs1160534364 CA405466049 |
171 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1160534364 CA405466047 |
171 | P>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA405466054 rs1398579139 |
172 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
CA9387275 VAR_051093 rs35617825 |
172 | P>S | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs758497685 CA9387277 |
173 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764009561 CA9387278 |
175 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1406381139 CA405466073 |
176 | C>S | No |
ClinGen gnomAD |
|
|
CA405466076 rs1555739874 |
176 | C>Y | No |
ClinGen Ensembl |
|
|
rs1339240221 CA405466094 |
179 | R>C | No |
ClinGen gnomAD |
|
|
rs752115972 CA9387279 |
179 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA9387281 rs781713095 |
180 | I>S | No |
ClinGen ExAC gnomAD |
|
|
rs757656466 CA9387280 |
180 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA9387282 rs746202980 |
181 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9387283 rs372693905 |
184 | L>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 185 | Q>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1036204464 CA307816268 |
186 | P>S | No |
ClinGen TOPMed |
|
|
rs191191959 CA9387284 |
188 | M>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA307816272 rs899084382 |
189 | Q>K | No |
ClinGen TOPMed |
|
|
CA9387285 rs748817066 |
191 | T>N | No |
ClinGen ExAC gnomAD |
|
|
rs1191642712 CA405466177 |
192 | P>L | No |
ClinGen gnomAD |
|
|
rs375649208 CA9387288 |
194 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA9387289 rs771960307 |
195 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA9387308 rs778520598 |
196 | P>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 198 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs747584367 CA9387309 |
198 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA405466233 rs1263518842 |
199 | P>H | No |
ClinGen TOPMed |
|
|
rs777680623 CA9387311 |
200 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9387313 rs770721599 |
200 | E>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777680623 CA9387312 COSM1524692 |
200 | E>K | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs774537515 CA9387317 |
202 | S>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9387316 rs768729158 |
202 | S>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1262759173 CA405466262 |
204 | S>F | No |
ClinGen gnomAD |
|
|
rs1237152796 CA633060341 |
204 | S>Y | No |
ClinGen gnomAD |
|
|
CA405466268 rs1199965749 |
205 | T>I | No |
ClinGen gnomAD |
|
|
CA405466265 rs1351468047 |
205 | T>S | No |
ClinGen gnomAD |
|
|
rs1280410199 CA405466279 |
207 | I>T | No |
ClinGen TOPMed |
|
|
CA9387320 rs750971522 |
208 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9387319 rs768206871 |
208 | Y>D | No |
ClinGen ExAC gnomAD |
|
|
rs551356942 CA307816434 |
209 | R>C | No |
ClinGen 1000Genomes |
|
|
rs551356942 CA307816427 |
209 | R>G | No |
ClinGen 1000Genomes |
|
|
rs199515554 CA9387321 |
209 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs199515554 CA405466289 |
209 | R>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9387322 rs766790190 |
210 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA405466304 rs1364062334 |
211 | M>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA405466302 rs1160798464 |
211 | M>T | No |
ClinGen gnomAD |
|
|
rs755744133 CA9387323 |
213 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA307816454 rs780801656 |
216 | R>C | No |
ClinGen gnomAD |
|
|
rs754704937 CA9387324 |
216 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
COSM566178 rs754704937 CA9387325 |
216 | R>P | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs757905028 CA9387327 |
218 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA9387328 rs777204895 |
218 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 221 | W>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs766769197 CA9387339 |
222 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA9387341 rs182129539 |
227 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1460751330 CA405466460 |
227 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs752357586 CA9387343 |
228 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA405466483 rs1281688798 |
229 | Q>* | No |
ClinGen gnomAD |
|
|
CA405466493 rs1347435395 |
229 | Q>H | No |
ClinGen gnomAD |
|
|
rs556772764 COSM3422693 CA9387344 |
231 | R>C | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA9387345 rs763621662 |
231 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs757268176 CA9387347 |
233 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs745741550 CA9387349 |
235 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1373083590 CA405466581 |
236 | M>T | No |
ClinGen TOPMed |
|
| TCGA novel | 237 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs754903532 CA9387352 COSM1494304 |
240 | R>Q | kidney [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA405466678 rs1427271230 |
244 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs200650723 CA9387354 |
245 | R>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1355475206 COSM187990 CA405466695 |
245 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA405466704 rs1457754420 |
246 | Q>E | No |
ClinGen gnomAD |
No associated diseases with Q96GY3
No regional properties for Q96GY3
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| No domain, repeats, and functional sites for Q96GY3 | |||
3 GO annotations of cellular component
| Name | Definition |
|---|---|
| Myb complex | A multisubunit complex consisting of Myb and other proteins that regulates site specific DNA replication, gene amplification and transcriptional repression. |
| nucleoplasm | That part of the nuclear content other than the chromosomes or the nucleolus. |
| transcription repressor complex | A protein complex that possesses activity that prevents or downregulates transcription. |
No GO annotations of molecular function
| Name | Definition |
|---|---|
| No GO annotations for molecular function |
1 GO annotations of biological process
| Name | Definition |
|---|---|
| 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. |
No homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| No homologous proteins | ||||
| 10 | 20 | 30 | 40 | 50 | 60 |
| MFPVKVKVEK | SELEMAKARN | QLDAVLQCLL | EKSHMDRERL | DEEAGKTPSD | THNKDCSIAA |
| 70 | 80 | 90 | 100 | 110 | 120 |
| TGKRPSARFP | HQRRKKRREM | DDGLAEGGPQ | RSNTYVIKLF | DRSVDLAQFS | ENTPLYPICR |
| 130 | 140 | 150 | 160 | 170 | 180 |
| AWMRNSPSVR | ERECSPSSPL | PPLPEDEEGS | EVTNSKSRDV | YKLPPPTPPG | PPGDACRSRI |
| 190 | 200 | 210 | 220 | 230 | 240 |
| PSPLQPEMQG | TPDDEPSEPE | PSPSTLIYRN | MQRWKRIRQR | WKEASHRNQL | RYSESMKILR |
| EMYERQ |