Q96K37
Gene name |
SLC35E1 (PSEC0038) |
Protein name |
Solute carrier family 35 member E1 |
Names |
|
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:79939 |
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 Q96K37
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q96K37-F1 | Predicted | AlphaFoldDB |
298 variants for Q96K37
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA404598003 rs1394995011 |
2 | A>V | No |
ClinGen TOPMed |
|
|
CA404597987 rs1393696965 |
4 | A>S | No |
ClinGen TOPMed |
|
|
CA404597930 rs1036482002 |
6 | V>E | No |
ClinGen gnomAD |
|
|
rs1036482002 CA305955970 |
6 | V>G | No |
ClinGen gnomAD |
|
|
CA404597949 rs1285447227 |
6 | V>L | No |
ClinGen TOPMed |
|
|
CA305955964 rs937268057 |
8 | A>P | No |
ClinGen TOPMed |
|
|
rs1205836570 CA404597888 |
9 | G>C | No |
ClinGen TOPMed |
|
|
rs1267555839 CA404597873 |
10 | H>R | No |
ClinGen TOPMed |
|
|
CA404597843 rs1201050401 |
12 | A>V | No |
ClinGen TOPMed |
|
|
CA404597840 rs1434071608 |
13 | G>R | No |
ClinGen TOPMed |
|
|
CA305955963 rs928533552 |
14 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
CA404597803 rs928533552 |
14 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
CA404597814 rs1466819378 |
14 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1395432468 CA404597791 |
15 | P>L | No |
ClinGen gnomAD |
|
|
CA305955962 rs981702692 |
15 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA9280301 rs775722955 |
17 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1403187197 CA404597725 |
20 | S>N | No |
ClinGen TOPMed |
|
|
rs1412993153 CA404597712 |
21 | S>G | No |
ClinGen gnomAD |
|
|
CA404597709 rs1305145017 |
21 | S>N | No |
ClinGen TOPMed |
|
|
rs1381917744 CA404597620 |
25 | R>H | No |
ClinGen TOPMed |
|
| TCGA novel | 26 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA404597604 rs989936448 |
26 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs989936448 CA305955926 |
26 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA404597535 rs1468657889 |
28 | A>T | No |
ClinGen gnomAD |
|
|
CA305955924 rs957099444 |
28 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA9280300 rs770045689 |
33 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs868497946 CA305955913 |
34 | C>F | No |
ClinGen Ensembl |
|
|
CA305955900 rs953628264 |
37 | W>C | No |
ClinGen TOPMed |
|
|
CA404597270 rs1342064193 |
39 | A>S | No |
ClinGen gnomAD |
|
|
rs1372008165 CA404597218 |
42 | A>P | No |
ClinGen gnomAD |
|
|
CA404597188 rs1220846427 |
44 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
CA305955877 rs866698867 |
46 | V>L | No |
ClinGen gnomAD |
|
|
rs866698867 CA404597160 |
46 | V>M | No |
ClinGen gnomAD |
|
|
CA404597135 rs1349438765 |
47 | V>A | No |
ClinGen gnomAD |
|
|
CA305955873 rs898016411 |
47 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA404596921 rs1388189629 |
60 | T>I | No |
ClinGen gnomAD |
|
|
rs865863690 CA305955868 |
60 | T>P | No |
ClinGen Ensembl |
|
|
rs1396518959 CA404596898 |
61 | V>E | No |
ClinGen gnomAD |
|
|
CA404596900 rs1454498406 CA404596907 |
61 | V>L | No |
ClinGen gnomAD |
|
|
rs1015505617 CA305955837 |
65 | H>Q | No |
ClinGen TOPMed |
|
|
CA9280298 rs781026728 |
66 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404596755 rs1440088763 |
69 | L>V | No |
ClinGen gnomAD |
|
|
CA404596730 rs1204910983 |
71 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA305955814 rs77915538 |
73 | L>P | No |
ClinGen Ensembl |
|
|
CA305955810 rs887829336 |
74 | P>L | No |
ClinGen TOPMed |
|
| TCGA novel | 74 | P>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1248132587 CA404596641 |
75 | P>R | No |
ClinGen TOPMed |
|
|
CA404596602 rs1174911220 |
78 | R>S | No |
ClinGen Ensembl |
|
|
CA404596587 rs1599324204 |
79 | A>T | No |
ClinGen Ensembl |
|
|
rs1402810083 CA404596527 |
81 | R>G | No |
ClinGen gnomAD |
|
|
CA404596481 rs1315871221 |
83 | P>S | No |
ClinGen TOPMed |
|
|
rs1568276177 CA404596450 |
85 | A>T | No |
ClinGen Ensembl |
|
|
CA404596360 rs1307273813 |
89 | S>L | No |
ClinGen gnomAD |
|
|
rs201579767 CA305955799 |
90 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA305955797 rs201579767 |
90 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
CA404596350 rs1045679673 |
91 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
CA305955791 rs1045679673 |
91 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA404596328 rs1408212762 |
92 | G>* | No |
ClinGen TOPMed gnomAD |
|
|
rs577323650 CA9280296 |
92 | G>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA404596329 CA404596333 rs1408212762 |
92 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1250410859 CA404596315 |
93 | P>H | No |
ClinGen gnomAD |
|
|
CA404596318 rs1468106450 |
93 | P>S | No |
ClinGen gnomAD |
|
|
rs1486266504 CA404596306 |
94 | S>G | No |
ClinGen gnomAD |
|
| TCGA novel | 94 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA404596268 rs1157137898 |
95 | P>L | No |
ClinGen TOPMed |
|
|
rs1458007330 CA404596264 |
96 | H>D | No |
ClinGen TOPMed |
|
|
CA404596259 rs557296600 |
96 | H>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA404596260 rs557296600 |
96 | H>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9280295 rs557296600 |
96 | H>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9280294 rs757953755 |
98 | S>L | No |
ClinGen ExAC gnomAD |
|
|
rs1284722091 CA404596225 |
98 | S>P | No |
ClinGen TOPMed |
|
|
CA9280293 rs752186866 |
99 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA404596163 rs1308635655 |
101 | P>L | No |
ClinGen TOPMed |
|
|
rs1348768467 CA404596179 |
101 | P>T | No |
ClinGen gnomAD |
|
|
CA404596154 rs1178907900 |
102 | L>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA404596100 rs1300902325 |
105 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA404596097 rs1300902325 |
105 | P>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA404596098 rs1300902325 |
105 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
rs935736929 CA305955781 |
106 | R>C | No |
ClinGen TOPMed |
|
|
CA404596091 rs1480028056 |
106 | R>H | No |
ClinGen Ensembl |
|
|
CA404596071 rs1465301555 |
107 | F>S | No |
ClinGen gnomAD |
|
|
rs764959391 CA9280292 |
108 | Y>S | No |
ClinGen ExAC gnomAD |
|
|
rs1160913186 CA404595974 |
112 | V>M | No |
ClinGen gnomAD |
|
|
rs1410634210 CA404595937 |
114 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs750812338 TCGA novel CA9280290 |
117 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC TOPMed gnomAD NCI-TCGA |
|
CA404595870 rs1258822687 |
118 | G>C | No |
ClinGen gnomAD |
|
|
CA404595809 rs1180483745 |
121 | F>V | No |
ClinGen gnomAD |
|
| TCGA novel | 125 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs575018623 CA9280288 |
128 | V>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1218262910 CA404595701 |
129 | S>G | No |
ClinGen gnomAD |
|
| TCGA novel | 130 | I>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA404595660 rs1327316575 |
131 | W>R | No |
ClinGen gnomAD |
|
|
CA305955748 rs1029722751 |
133 | V>A | No |
ClinGen TOPMed |
|
|
CA404595602 rs1176049737 |
133 | V>L | No |
ClinGen TOPMed |
|
|
rs868723130 CA404595584 |
134 | P>S | No |
ClinGen gnomAD |
|
|
CA305955742 rs868723130 |
134 | P>T | No |
ClinGen gnomAD |
|
|
rs1336869370 CA404595500 |
141 | V>I | No |
ClinGen gnomAD |
|
|
rs778572274 CA9280273 |
144 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404593564 rs1170883231 |
145 | M>V | No |
ClinGen gnomAD |
|
|
rs1389934325 CA404593535 |
149 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
CA9280270 rs767971575 |
151 | L>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA9280269 rs757679561 |
151 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1480934382 CA404593509 |
153 | S>F | No |
ClinGen gnomAD |
|
|
CA404593508 rs1202779639 |
154 | R>G | No |
ClinGen gnomAD |
|
|
rs1000093968 CA305955413 |
155 | I>T | No |
ClinGen TOPMed |
|
|
CA9280266 rs763380382 |
155 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1236091088 CA404593473 |
159 | E>Q | No |
ClinGen gnomAD |
|
|
rs775477901 CA9280265 |
161 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404593449 rs1230819695 |
162 | S>C | No |
ClinGen TOPMed |
|
| TCGA novel | 162 | S>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA305955410 rs889661925 |
162 | S>N | No |
ClinGen TOPMed |
|
|
rs944747722 CA404593445 |
162 | S>R | No |
ClinGen gnomAD |
|
| TCGA novel | 163 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA404635295 rs1381595141 |
165 | V>I | No |
ClinGen gnomAD |
|
|
rs753256934 CA9280247 |
166 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA306011182 rs745802741 |
171 | P>A | No |
ClinGen Ensembl |
|
|
rs759576353 CA9280245 |
173 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9280242 rs760813611 |
175 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs766567404 CA9280243 |
175 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA404635206 rs1414332355 |
179 | A>V | No |
ClinGen gnomAD |
|
|
rs774469202 CA9280238 |
181 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 186 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA404635159 rs1255216463 |
187 | D>N | No |
ClinGen gnomAD |
|
|
rs941557153 CA306011147 |
188 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
CA9280233 rs745571318 |
188 | M>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 189 | W>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 189 | W>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA404635129 rs1568274955 |
191 | L>F | No |
ClinGen Ensembl |
|
|
CA404635122 rs138285196 |
192 | V>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9280231 rs138285196 |
192 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA404635117 rs1450796743 |
193 | S>G | No |
ClinGen gnomAD |
|
|
rs779346314 CA9280229 |
194 | A>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 194 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1383036699 CA404635103 |
195 | L>F | No |
ClinGen gnomAD |
|
| TCGA novel | 195 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs753890960 CA9280227 |
196 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA306011135 rs1055547975 |
196 | A>V | No |
ClinGen gnomAD |
|
|
CA9280225 rs561883745 |
197 | A>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1471754015 CA404635086 |
198 | T>M | No |
ClinGen gnomAD |
|
|
rs1568274926 CA404635067 |
201 | F>C | No |
ClinGen Ensembl |
|
|
CA306011106 rs201684397 |
205 | N>S | No |
ClinGen 1000Genomes |
|
|
CA9280220 rs764064028 |
206 | I>M | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 210 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1207567731 CA404635004 |
210 | K>R | No |
ClinGen gnomAD |
|
|
CA9280203 rs764043868 |
213 | R>* | No |
ClinGen ExAC gnomAD |
|
|
rs762967076 CA9280202 |
213 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1167704168 CA404634961 |
215 | S>L | No |
ClinGen gnomAD |
|
|
rs758925004 CA9280199 |
216 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs765255227 CA9280200 |
216 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA9280198 rs776222129 |
221 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1183587950 CA404634909 |
224 | N>S | No |
ClinGen gnomAD |
|
|
CA306010239 rs377141552 |
228 | C>F | No |
ClinGen ESP |
|
|
rs967033576 CA306010241 |
228 | C>R | No |
ClinGen Ensembl |
|
|
rs769059037 CA9280194 |
230 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA306010217 rs201250256 |
231 | V>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs201250256 CA9280192 |
231 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs540729933 CA9280191 |
232 | F>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1344481248 CA404634851 |
233 | F>L | No |
ClinGen gnomAD |
|
|
rs1289028995 CA404634848 |
234 | M>V | No |
ClinGen gnomAD |
|
|
rs1411639337 CA404634824 |
237 | T>I | No |
ClinGen gnomAD |
|
|
CA404634819 rs1348502642 |
238 | W>G | No |
ClinGen gnomAD |
|
|
CA404634821 rs1348502642 |
238 | W>R | No |
ClinGen gnomAD |
|
|
rs745876227 CA9280190 |
240 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs909031994 CA306010203 |
241 | V>M | No |
ClinGen TOPMed |
|
|
CA404634780 rs1448411460 |
244 | S>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1448411460 CA404634778 |
244 | S>L | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 245 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1407253136 CA404634767 |
246 | F>S | No |
ClinGen TOPMed |
|
|
CA9280188 rs375432387 |
248 | V>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9280187 rs375432387 |
248 | V>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA404634751 rs1412133109 |
249 | S>N | No |
ClinGen gnomAD |
|
|
rs752563576 CA9280184 |
251 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs140736951 CA9280185 |
251 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs765030120 CA9280183 |
252 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA404634321 rs1599315696 |
253 | T>P | No |
ClinGen Ensembl |
|
|
rs984010174 CA404634302 |
254 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
CA404634300 rs984010174 |
254 | Y>F | No |
ClinGen TOPMed gnomAD |
|
|
CA306003168 rs984010174 |
254 | Y>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1208955573 CA404634289 |
255 | V>A | No |
ClinGen gnomAD |
|
|
rs768784190 CA9280129 |
255 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs146779841 CA9280128 |
256 | Y>S | No |
ClinGen ESP ExAC TOPMed |
|
|
CA404634265 rs1465918768 |
257 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1203940628 CA404634245 |
258 | W>S | No |
ClinGen gnomAD |
|
|
rs374298006 CA9280126 |
260 | W>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs745863119 CA9280125 |
261 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9280123 rs756830191 |
266 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA306003119 rs749199081 |
269 | G>S | No |
ClinGen gnomAD |
|
|
CA9280120 rs758132299 |
271 | C>F | No |
ClinGen ExAC gnomAD |
|
|
CA404634087 rs758132299 |
271 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
rs754254923 CA9280119 |
272 | N>K | No |
ClinGen ExAC |
|
|
rs766910485 CA9280118 |
274 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs1271241992 CA404634041 |
274 | A>V | No |
ClinGen TOPMed |
|
|
CA404633990 rs1194595309 |
278 | I>T | No |
ClinGen gnomAD |
|
|
rs761244145 CA9280117 |
279 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1204827085 CA404633954 |
281 | S>G | No |
ClinGen TOPMed |
|
|
CA306003078 rs994565393 |
281 | S>I | No |
ClinGen Ensembl |
|
|
rs1204827085 CA404633955 |
281 | S>R | No |
ClinGen TOPMed |
|
|
CA9280115 rs376995220 |
284 | N>S | No |
ClinGen ESP ExAC gnomAD |
|
|
CA306003070 rs1020101948 |
286 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA404633755 rs1212138092 |
292 | S>L | No |
ClinGen gnomAD |
|
|
CA9280110 rs775250515 |
293 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs745759492 CA9280108 |
294 | A>T | No |
ClinGen ExAC |
|
|
CA9280107 rs140984339 |
295 | N>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA306003037 rs1053924837 |
296 | A>T | No |
ClinGen Ensembl |
|
|
CA404633707 rs1268498851 |
300 | I>T | No |
ClinGen gnomAD |
|
|
rs369825827 CA9280106 |
301 | M>I | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1331745237 CA404633700 |
301 | M>T | No |
ClinGen gnomAD |
|
|
rs1430039744 CA404633703 |
301 | M>V | No |
ClinGen gnomAD |
|
|
rs1422637654 CA404633694 |
302 | V>I | No |
ClinGen gnomAD |
|
|
CA9280105 rs200023824 |
304 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9280102 rs752449991 |
309 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA9280101 rs780536619 |
311 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs202071873 CA9280100 |
311 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA404633630 rs1232047973 |
312 | N>K | No |
ClinGen TOPMed |
|
|
CA404633624 rs1295184311 |
313 | P>L | No |
ClinGen TOPMed |
|
|
rs1201696533 CA404633622 |
314 | V>F | No |
ClinGen gnomAD |
|
|
rs762230581 CA9280097 |
316 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA9280098 rs768011105 |
316 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA9280096 rs751654477 |
317 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs1408146172 CA404633592 |
319 | V>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1056820937 CA306002960 |
329 | V>F | No |
ClinGen TOPMed |
|
|
rs1056820937 CA404633526 |
329 | V>I | No |
ClinGen TOPMed |
|
|
rs937057026 CA306002945 |
333 | N>K | No |
ClinGen gnomAD |
|
|
rs747605523 CA9280065 |
338 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9280066 rs772157979 |
338 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9280064 rs778572398 |
340 | N>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9280063 rs768348529 |
342 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs1290710883 CA404633416 |
343 | A>T | No |
ClinGen Ensembl |
|
|
rs748949658 CA9280062 |
343 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA9280061 rs151052094 |
344 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1455830780 CA404633403 |
345 | K>R | No |
ClinGen gnomAD |
|
|
rs1568270602 CA404633386 |
347 | L>P | No |
ClinGen Ensembl |
|
|
CA9280058 rs778199028 |
350 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA306001677 rs971046024 |
351 | T>A | No |
ClinGen TOPMed |
|
|
rs1439827641 CA404633363 |
351 | T>I | No |
ClinGen gnomAD |
|
|
rs376710881 CA9280057 |
352 | T>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA404633354 rs1313440234 |
353 | A>E | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 353 | A>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs148657007 CA9280056 |
354 | D>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA404633343 rs1248748307 |
355 | L>V | No |
ClinGen gnomAD |
|
|
rs1188317152 CA404633336 |
356 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
CA9280053 rs754052000 |
359 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs552232039 CA9280054 |
359 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA9280052 rs372456978 |
360 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9280051 rs200335570 |
360 | R>H | Variant assessed as Somatic; 9.241e-05 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA404633303 rs1289293305 |
361 | H>Y | No |
ClinGen gnomAD |
|
|
CA9280049 rs147619010 |
362 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs565590794 CA9280050 |
362 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs1379971348 CA404633292 |
363 | S>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs375491945 CA9280048 |
363 | S>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9280047 rs773984481 |
365 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA404633261 rs1288867280 |
368 | P>T | No |
ClinGen gnomAD |
|
|
rs748938583 CA9280045 |
369 | H>P | No |
ClinGen ExAC gnomAD |
|
|
rs768099647 CA9280046 |
369 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1390957595 CA404633239 |
371 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
CA9280043 rs145285238 |
371 | G>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA404633237 rs1390957595 |
371 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
rs372899866 CA9280041 |
372 | L>R | No |
ClinGen ESP ExAC gnomAD |
|
|
CA404633233 rs1170698223 |
372 | L>V | No |
ClinGen TOPMed |
|
|
rs758896013 CA9280040 |
373 | L>V | No |
ClinGen ExAC |
|
|
rs901860363 CA306001507 |
377 | H>P | No |
ClinGen TOPMed gnomAD |
|
|
CA9280035 rs147350311 |
378 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1599761520 CA404633146 |
379 | D>N | No |
ClinGen Ensembl |
|
|
rs750240068 CA9280033 |
380 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs767476586 CA9280032 |
382 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA404633085 rs1568270524 |
383 | G>D | No |
ClinGen Ensembl |
|
|
CA9280031 rs562290843 |
383 | G>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs199865548 CA9280030 |
384 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1347898165 CA404633076 |
384 | R>H | No |
ClinGen gnomAD |
|
|
CA9280029 rs199865548 |
384 | R>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA404633064 rs1273531715 |
385 | N>S | No |
ClinGen TOPMed |
|
|
rs1347822399 CA404633055 |
386 | N>D | No |
ClinGen TOPMed |
|
|
rs1219885092 CA404633050 |
386 | N>S | No |
ClinGen TOPMed |
|
|
rs762318321 CA404632996 |
390 | D>A | No |
ClinGen ExAC gnomAD |
|
|
rs762318321 CA9280028 |
390 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA404632984 rs1599761488 |
391 | H>P | No |
ClinGen Ensembl |
|
|
CA404632937 rs1365562281 |
394 | Y>* | No |
ClinGen Ensembl |
|
|
CA404632943 rs1200700853 |
394 | Y>C | No |
ClinGen TOPMed |
|
|
CA306001378 rs371174699 |
396 | R>Q | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs775075153 CA9280027 |
396 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1372597813 CA404632902 |
397 | Q>* | No |
ClinGen gnomAD |
|
| TCGA novel | 398 | S>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1176828102 CA404632853 |
400 | P>S | No |
ClinGen gnomAD |
|
|
CA404632840 rs1568270496 |
401 | N>D | No |
ClinGen Ensembl |
|
|
CA306001365 rs867649677 |
402 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA9280023 rs761910310 |
403 | Y>* | No |
ClinGen ESP ExAC TOPMed |
|
|
CA404632803 rs1427049535 |
403 | Y>C | No |
ClinGen gnomAD |
|
|
CA9280024 rs773546820 |
404 | S>N | No |
ClinGen ExAC |
|
|
CA9280022 rs772468571 |
405 | L>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9280021 rs368062600 |
407 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9280020 rs779242527 |
407 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404632724 rs1193767953 |
408 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1466761433 CA404632730 |
408 | Y>H | No |
ClinGen TOPMed |
|
|
CA9280018 rs749260441 |
409 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA9280019 rs749260441 |
409 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA9280016 rs756393413 |
410 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA9280017 rs780249386 |
410 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA404632677 rs1393300747 |
411 | V>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
No associated diseases with Q96K37
1 regional properties for Q96K37
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Sugar phosphate transporter domain | 29 - 333 | IPR004853 |
2 GO annotations of cellular component
| Name | Definition |
|---|---|
| Golgi apparatus | A membrane-bound cytoplasmic organelle of the endomembrane system that further processes the core oligosaccharides (e.g. N-glycans) added to proteins in the endoplasmic reticulum and packages them into membrane-bound vesicles. The Golgi apparatus operates at the intersection of the secretory, lysosomal, and endocytic pathways. |
| integral component of membrane | The component of a membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane. |
1 GO annotations of molecular function
| Name | Definition |
|---|---|
| antiporter activity | Enables the active transport of a solute across a membrane by a mechanism whereby two or more species are transported in opposite directions in a tightly coupled process not directly linked to a form of energy other than chemiosmotic energy. The reaction is: solute A(out) + solute B(in) = solute A(in) + solute B(out). |
No GO annotations of biological process
| Name | Definition |
|---|---|
| No GO annotations for biological process |
8 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| P0CK97 | SLC35E2A | Solute carrier family 35 member E2A | Homo sapiens (Human) | PR |
| P0CK96 | SLC35E2B | Solute carrier family 35 member E2B | Homo sapiens (Human) | PR |
| Q8C811 | Slc35e2a | Solute carrier family 35 member E2A | Mus musculus (Mouse) | PR |
| Q8CD26 | Slc35e1 | Solute carrier family 35 member E1 | Mus musculus (Mouse) | PR |
| Q8RXL8 | UXT3 | UDP-xylose transporter 3 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9SRE4 | URGT1 | UDP-rhamnose/UDP-galactose transporter 1 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9SS40 | At3g10290 | Probable sugar phosphate/phosphate translocator At3g10290 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q8H0T6 | PPT2 | Phosphoenolpyruvate/phosphate translocator 2, chloroplastic | Arabidopsis thaliana (Mouse-ear cress) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MAAAAVGAGH | GAGGPGAASS | SGGAREGARV | AALCLLWYAL | SAGGNVVNKV | ILSAFPFPVT |
| 70 | 80 | 90 | 100 | 110 | 120 |
| VSLCHILALC | AGLPPLLRAW | RVPPAPPVSG | PGPSPHPSSG | PLLPPRFYPR | YVLPLAFGKY |
| 130 | 140 | 150 | 160 | 170 | 180 |
| FASVSAHVSI | WKVPVSYAHT | VKATMPIWVV | LLSRIIMKEK | QSTKVYLSLI | PIISGVLLAT |
| 190 | 200 | 210 | 220 | 230 | 240 |
| VTELSFDMWG | LVSALAATLC | FSLQNIFSKK | VLRDSRIHHL | RLLNILGCHA | VFFMIPTWVL |
| 250 | 260 | 270 | 280 | 290 | 300 |
| VDLSAFLVSS | DLTYVYQWPW | TLLLLAVSGF | CNFAQNVIAF | SILNLVSPLS | YSVANATKRI |
| 310 | 320 | 330 | 340 | 350 | 360 |
| MVITVSLIML | RNPVTSTNVL | GMMTAILGVF | LYNKTKYDAN | QQARKHLLPV | TTADLSSKER |
| 370 | 380 | 390 | 400 | ||
| HRSPLEKPHN | GLLFPQHGDY | QYGRNNILTD | HFQYSRQSYP | NSYSLNRYDV |