Q8TF71
PR
Gene name |
SLC16A10 (MCT10, TAT1) |
Protein name |
Monocarboxylate transporter 10 |
Names |
MCT 10, Aromatic amino acid transporter 1, Solute carrier family 16 member 10, T-type amino acid transporter 1 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:117247 |
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 Q8TF71
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q8TF71-F1 | Predicted | AlphaFoldDB |
349 variants for Q8TF71
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA365354556 rs1562392226 |
2 | V>L | No |
ClinGen Ensembl |
|
|
CA365354580 rs1562392230 |
4 | S>F | No |
ClinGen Ensembl |
|
|
CA145842817 rs988519724 |
4 | S>P | No |
ClinGen TOPMed |
|
|
rs988519724 CA365354573 |
4 | S>T | No |
ClinGen TOPMed |
|
|
CA365354602 rs1583295120 |
6 | E>V | No |
ClinGen Ensembl |
|
|
CA365354610 rs1583295125 |
7 | E>* | No |
ClinGen Ensembl |
|
|
rs1562392245 CA365354656 |
11 | A>P | No |
ClinGen Ensembl |
|
|
CA365354660 rs1181294761 |
11 | A>V | No |
ClinGen TOPMed |
|
|
CA145842820 rs949862953 |
12 | R>G | No |
ClinGen TOPMed |
|
|
CA145842821 rs1045595431 |
13 | G>S | No |
ClinGen TOPMed |
|
|
CA365354680 rs1445672116 |
14 | T>A | No |
ClinGen TOPMed |
|
|
rs1284061043 CA365354685 |
14 | T>M | No |
ClinGen TOPMed |
|
|
rs1353545370 CA365354690 |
15 | S>C | No |
ClinGen TOPMed |
|
|
CA365354699 rs1328040449 |
16 | E>K | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 17 | A>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs905764178 CA145842822 |
18 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1383551524 CA365354745 |
20 | L>P | No |
ClinGen TOPMed |
|
|
rs1317468189 CA365354747 |
21 | G>S | No |
ClinGen TOPMed |
|
|
CA145842823 rs911110563 |
21 | G>V | No |
ClinGen Ensembl |
|
|
rs918679042 CA145842826 |
23 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs930093398 CA145842828 |
24 | P>H | No |
ClinGen TOPMed |
|
| TCGA novel | 27 | A>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs771498286 CA3960296 |
30 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA145842831 rs907386527 |
33 | P>A | No |
ClinGen TOPMed |
|
|
CA145842832 rs1001696241 |
33 | P>Q | No |
ClinGen Ensembl |
|
|
CA365354871 rs1241144771 |
34 | G>E | No |
ClinGen TOPMed |
|
|
CA365354884 rs1173708220 |
35 | P>L | No |
ClinGen gnomAD |
|
|
CA365354892 rs1267407522 |
36 | S>W | No |
ClinGen TOPMed |
|
|
rs1425143802 CA365354922 |
39 | P>S | No |
ClinGen gnomAD |
|
|
rs1360755194 CA365354947 |
42 | A>T | No |
ClinGen TOPMed |
|
|
rs1328111000 CA365354954 |
43 | V>L | No |
ClinGen gnomAD |
|
|
CA365354963 rs1292176640 |
44 | E>G | No |
ClinGen TOPMed |
|
|
CA365354968 rs1438382102 |
45 | K>E | No |
ClinGen gnomAD |
|
|
rs775038663 CA3960300 |
47 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1001098658 CA145842833 |
48 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
CA3960301 rs760184130 |
48 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA365354988 rs760184130 |
48 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3960302 rs763710240 |
51 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA365355020 rs1215180442 |
53 | P>L | No |
ClinGen gnomAD |
|
|
rs1272953507 CA365355022 |
54 | A>T | No |
ClinGen gnomAD |
|
|
rs1306235614 CA365355029 |
55 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
CA3960303 rs370327858 |
55 | T>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs761836776 CA3960304 |
56 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1366091122 TCGA novel CA365355044 |
57 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
NCI-TCGA ClinGen TOPMed |
|
rs765322988 CA145842836 |
58 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs765322988 CA3960306 |
58 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA3960307 rs750209624 |
59 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs988516776 CA145842837 |
59 | H>R | No |
ClinGen TOPMed |
|
|
rs1418356751 CA365355063 |
60 | E>D | No |
ClinGen TOPMed |
|
|
CA365355057 rs1473024600 |
60 | E>Q | No |
ClinGen gnomAD |
|
|
CA3960309 rs758165599 |
61 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs1168076989 CA365355067 |
61 | P>R | No |
ClinGen TOPMed |
|
|
CA365355065 rs758165599 |
61 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA145842838 rs1022004702 |
62 | P>S | No |
ClinGen gnomAD |
|
|
rs1022004702 CA365355069 |
62 | P>T | No |
ClinGen gnomAD |
|
| TCGA novel | 63 | E>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3960310 rs566727234 |
64 | P>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA365355085 rs1364730122 |
64 | P>H | No |
ClinGen gnomAD |
|
|
rs1364730122 CA365355083 |
64 | P>L | No |
ClinGen gnomAD |
|
|
CA3960311 rs566727234 |
64 | P>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs566727234 CA365355082 |
64 | P>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA365355090 rs1583295322 |
65 | P>R | No |
ClinGen Ensembl |
|
|
CA365355088 rs1301542903 |
65 | P>S | No |
ClinGen gnomAD |
|
|
CA3960314 rs749432048 |
68 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA3960315 rs568666260 |
73 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA365355140 rs1360556009 |
73 | V>L | No |
ClinGen gnomAD |
|
|
rs1202527142 CA365355158 |
75 | L>P | No |
ClinGen TOPMed |
|
|
CA365355174 rs772346861 |
78 | M>K | No |
ClinGen ExAC gnomAD |
|
|
rs772346861 CA3960318 |
78 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA145842839 rs201455367 |
81 | N>K | No |
ClinGen 1000Genomes |
|
|
CA3960319 rs775150850 |
83 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA145842840 rs867281147 |
86 | G>D | No |
ClinGen Ensembl |
|
|
CA3960323 rs761456951 |
87 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA145842841 rs927125444 |
88 | Q>* | No |
ClinGen TOPMed |
|
|
CA365355258 rs765233362 |
90 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs765233362 CA3960324 |
90 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA365355281 rs1422541263 |
94 | L>F | No |
ClinGen gnomAD |
|
|
CA3960327 rs766098164 |
96 | V>M | No |
ClinGen ExAC gnomAD |
|
|
COSM323355 CA145842843 rs1018610533 |
98 | M>L | lung [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
CA365355305 rs1018610533 |
98 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1368302116 CA365355316 |
99 | L>R | No |
ClinGen TOPMed |
|
|
CA145842844 rs962568465 |
100 | E>A | No |
ClinGen Ensembl |
|
|
CA3960328 rs558667497 |
100 | E>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs575692941 CA3960329 |
101 | T>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 103 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1316379227 CA365355347 |
103 | G>V | No |
ClinGen gnomAD |
|
|
rs145047809 CA3960330 |
104 | S>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA365355355 rs145047809 |
104 | S>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1382639181 CA365355350 |
104 | S>P | No |
ClinGen gnomAD |
|
|
CA3960332 rs757360751 |
105 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA365355362 rs1204183849 |
105 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
CA3960333 rs147581822 |
106 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1036343983 CA145842845 |
106 | D>V | No |
ClinGen TOPMed |
|
|
rs758723130 CA365355386 |
107 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3960334 rs746376203 |
107 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA145842846 rs929959183 |
107 | D>N | No |
ClinGen gnomAD |
|
|
rs780277572 CA3960336 |
108 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs1227546144 CA365355415 |
110 | M>L | No |
ClinGen TOPMed gnomAD |
|
|
CA3960337 rs747435538 |
111 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs771868234 CA3960368 |
115 | A>E | No |
ClinGen ExAC gnomAD |
|
|
rs771868234 CA3960369 |
115 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1396633503 CA365251939 |
116 | W>* | No |
ClinGen TOPMed |
|
|
rs1176489030 CA365251952 |
118 | G>C | No |
ClinGen TOPMed |
|
|
CA365251954 rs1193906495 |
118 | G>D | No |
ClinGen gnomAD |
|
|
CA3960370 rs762018924 |
120 | L>F | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 125 | I>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA365252003 rs1238333856 |
125 | I>S | No |
ClinGen TOPMed |
|
|
rs750447535 CA3960372 |
126 | F>L | No |
ClinGen ExAC |
|
|
CA3960373 rs763131188 |
127 | F>S | No |
ClinGen ExAC gnomAD |
|
|
CA3960375 rs752131378 |
130 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA145226919 rs977341941 |
131 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1461902752 CA365252055 |
133 | S>N | No |
ClinGen gnomAD |
|
|
CA365252056 rs1461902752 |
133 | S>T | No |
ClinGen gnomAD |
|
|
CA3960378 rs781690219 |
134 | V>I | No |
ClinGen ExAC |
|
| TCGA novel | 137 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs755704433 CA3960380 |
140 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA365252109 rs1295646194 |
141 | C>S | No |
ClinGen gnomAD |
|
|
rs541891646 CA3960382 |
142 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs754348846 CA145226956 |
142 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
rs372706701 CA3960384 |
145 | A>T | No |
ClinGen ESP ExAC gnomAD |
|
|
rs148349506 CA3960386 |
147 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs775252602 CA3960387 |
150 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1562421594 CA365252168 |
151 | V>G | No |
ClinGen Ensembl |
|
|
rs1188410453 CA365252163 |
151 | V>I | No |
ClinGen gnomAD |
|
|
rs1416261102 CA365252178 |
153 | F>Y | No |
ClinGen TOPMed |
|
|
rs1387572649 CA365252188 |
154 | V>A | No |
ClinGen gnomAD |
|
|
rs140564027 CA145226985 CA3960390 |
157 | M>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA365252202 rs1445647437 |
157 | M>V | No |
ClinGen gnomAD |
|
|
CA3960391 rs773513280 |
158 | S>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1380758454 CA365252214 |
159 | S>G | No |
ClinGen TOPMed |
|
| TCGA novel | 161 | F>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3960414 rs774556819 |
165 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs568561540 CA3960413 |
165 | I>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
COSM1620776 rs575043882 CA3960415 |
166 | E>K | liver [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC gnomAD |
|
rs554609551 CA3960417 |
167 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs760893470 CA3960418 |
169 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs754223965 CA3960421 |
171 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs764919856 CA3960422 |
171 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs754223965 CA3960420 |
171 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs749903701 CA3960423 |
172 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1562422905 CA365252818 |
174 | I>V | No |
ClinGen Ensembl |
|
|
rs1197615429 CA365252840 |
175 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
CA365252876 rs1246825069 |
178 | C>Y | No |
ClinGen TOPMed |
|
|
rs757935476 CA3960424 |
179 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs954386025 CA145229575 |
180 | C>S | No |
ClinGen Ensembl |
|
|
CA3960425 rs779916305 |
180 | C>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA145229577 rs867589339 |
182 | F>S | No |
ClinGen Ensembl |
|
|
rs574367554 CA3960426 |
183 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1442706822 CA365252977 |
190 | I>V | No |
ClinGen gnomAD |
|
|
rs781034355 CA365253013 |
193 | H>L | No |
ClinGen ExAC gnomAD |
|
|
CA3960429 rs138486397 |
193 | H>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs781034355 CA3960428 |
193 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs771252451 CA3960430 |
194 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA3960431 rs774749152 |
196 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA3960432 rs377728742 |
197 | K>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs772294671 CA3960433 |
198 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs775797599 CA3960434 |
198 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 205 | I>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3960438 rs762203795 |
205 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs934782917 CA145229696 |
206 | V>F | No |
ClinGen TOPMed |
|
|
CA3960441 rs762389765 |
211 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA3960442 rs765914616 |
212 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA3960443 rs751094525 |
223 | V>F | No |
ClinGen ExAC gnomAD |
|
|
rs1387035963 CA365253384 |
224 | L>Q | No |
ClinGen TOPMed |
|
|
rs940269957 CA145229727 |
225 | I>M | No |
ClinGen Ensembl |
|
|
CA3960444 rs754925006 |
225 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA365253403 rs1410452167 |
227 | S>N | No |
ClinGen gnomAD |
|
|
rs1291785924 CA365253400 |
227 | S>R | No |
ClinGen TOPMed |
|
|
rs752500324 CA365253409 |
228 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3960446 rs752500324 |
228 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1389181440 CA365253437 |
232 | Y>C | No |
ClinGen TOPMed |
|
| TCGA novel | 239 | I>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1418831345 CA365253495 |
240 | F>L | No |
ClinGen Ensembl |
|
|
rs200192335 CA145229762 |
241 | M>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs866791136 CA145229773 |
241 | M>T | No |
ClinGen gnomAD |
|
|
CA3960448 rs200192335 |
241 | M>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1448082330 CA365253506 |
242 | F>S | No |
ClinGen gnomAD |
|
|
CA3960449 rs746095820 |
243 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1215666957 CA365253525 |
245 | F>S | No |
ClinGen gnomAD |
|
|
rs780171639 CA3960451 |
247 | A>P | No |
ClinGen ExAC gnomAD |
|
|
CA145229787 rs559541186 |
249 | F>I | No |
ClinGen gnomAD |
|
|
CA3960452 rs747108048 |
252 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA3960453 rs374208304 |
252 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3960454 rs777035622 |
253 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1243341398 CA365253571 |
253 | P>S | No |
ClinGen gnomAD |
|
|
CA3960455 rs762115910 |
254 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA365253590 rs1267562676 |
256 | T>I | No |
ClinGen TOPMed |
|
|
CA145229820 rs1046603653 |
258 | T>I | No |
ClinGen Ensembl |
|
| TCGA novel | 259 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA365253626 rs1163950119 |
261 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1366483875 CA365253644 |
264 | G>R | No |
ClinGen gnomAD |
|
|
rs762586820 CA3960458 |
267 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1562423112 CA365253674 |
268 | S>F | No |
ClinGen Ensembl |
|
|
rs1386098913 CA365253678 |
269 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs531084635 CA3960460 |
270 | L>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1363599300 CA365253685 |
270 | L>P | No |
ClinGen gnomAD |
|
|
CA365253682 rs531084635 |
270 | L>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA365253700 rs1368256353 |
273 | R>G | No |
ClinGen TOPMed |
|
|
CA3960461 rs759005162 |
274 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3960462 rs370661991 |
275 | K>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1168879277 CA365253720 |
275 | K>N | No |
ClinGen TOPMed |
|
|
rs1053568379 CA145229873 |
277 | S>R | No |
ClinGen TOPMed |
|
|
CA365253756 rs1583346116 |
281 | K>Q | No |
ClinGen Ensembl |
|
|
rs752699490 CA3960463 |
282 | I>F | No |
ClinGen ExAC gnomAD |
|
|
rs1447099669 CA365253772 |
282 | I>M | No |
ClinGen TOPMed gnomAD |
|
| rs1207703215 | 282 | I>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 282 | I>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA365253786 rs1214408898 |
284 | N>S | No |
ClinGen gnomAD |
|
| TCGA novel | 285 | F>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA365253800 rs1246159082 |
286 | A>T | No |
ClinGen gnomAD |
|
|
CA3960464 rs116322832 |
287 | I>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs777709013 CA3960465 |
288 | F>V | No |
ClinGen ExAC gnomAD |
|
|
rs753746315 CA3960466 |
291 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs758673620 CA3960467 |
294 | A>V | No |
ClinGen ExAC |
|
| TCGA novel | 296 | W>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs780180467 CA3960468 |
297 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA3960469 rs561399636 |
298 | V>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA365253933 rs1401395627 |
301 | P>L | No |
ClinGen gnomAD |
|
|
rs1180459222 CA365253950 |
303 | A>V | No |
ClinGen TOPMed |
|
|
rs1387163987 CA365253972 |
305 | F>L | No |
ClinGen gnomAD |
|
|
rs1252776792 CA365254025 |
312 | V>I | No |
ClinGen TOPMed |
|
|
rs768294441 CA3960518 |
315 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3960517 rs770047866 |
315 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1285343377 CA365259205 |
317 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA3960520 rs761652083 |
319 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1225965624 CA365259261 |
324 | D>G | No |
ClinGen gnomAD |
|
|
CA3960521 CA3960522 rs373761089 |
325 | E>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1230081725 CA365259272 |
326 | K>E | No |
ClinGen TOPMed |
|
| TCGA novel | 327 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1023815138 CA145243669 |
329 | E>K | No |
ClinGen TOPMed |
|
|
CA365259308 rs1226434255 |
331 | V>I | No |
ClinGen TOPMed |
|
| TCGA novel | 332 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3960524 rs767684506 |
333 | M>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 335 | I>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3960526 rs760684404 |
337 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1206934888 CA365259359 |
338 | T>S | No |
ClinGen gnomAD |
|
|
rs202085593 CA3960527 |
343 | R>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs754012515 CA3960528 |
343 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA365259389 rs1212134556 |
344 | L>P | No |
ClinGen Ensembl |
|
|
rs757687123 CA3960529 |
346 | F>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757687123 CA365259402 |
346 | F>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA145243692 rs749623985 |
347 | G>V | No |
ClinGen Ensembl |
|
|
rs750713853 CA3960531 |
348 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA3960530 rs200813678 COSM4139055 |
348 | R>W | ovary Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA gnomAD |
|
CA3960532 rs758857738 |
352 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA3960533 rs779796347 |
355 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs1406562667 CA365259458 |
356 | V>M | No |
ClinGen TOPMed |
|
|
rs1027671028 CA145243700 |
357 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1167785569 CA365259467 |
357 | K>R | No |
ClinGen TOPMed |
|
|
CA365259483 rs1338547472 |
359 | V>A | No |
ClinGen gnomAD |
|
|
rs1432806356 CA365259479 |
359 | V>I | No |
ClinGen gnomAD |
|
|
CA365259502 rs1475951025 |
362 | Q>R | No |
ClinGen TOPMed |
|
|
CA3960563 rs774114547 |
366 | F>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 367 | F>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs201626230 CA3960564 |
368 | F>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA365262771 rs768721049 |
369 | I>F | No |
ClinGen ExAC gnomAD |
|
|
CA145248869 rs961393860 |
369 | I>T | No |
ClinGen Ensembl |
|
|
CA3960565 rs768721049 |
369 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1356073207 CA365262792 |
370 | G>C | No |
ClinGen gnomAD |
|
|
CA365262798 rs1462257352 |
370 | G>D | No |
ClinGen gnomAD |
|
|
rs1462257352 CA365262802 |
370 | G>V | No |
ClinGen gnomAD |
|
|
CA145248880 rs148659008 |
372 | M>L | No |
ClinGen ESP TOPMed |
|
|
rs1026473710 CA145248882 |
374 | M>V | No |
ClinGen TOPMed |
|
|
CA365263055 rs1583369634 |
380 | S>G | No |
ClinGen Ensembl |
|
|
rs773230210 CA365263112 |
383 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA3960569 COSM393727 rs773230210 |
383 | G>V | lung [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs763540700 CA3960570 |
384 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA3960571 rs767041440 |
385 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs1468768212 CA365263158 |
386 | I>V | No |
ClinGen TOPMed |
|
|
CA3960572 rs751937243 |
387 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA365263224 rs1273525081 |
389 | C>Y | No |
ClinGen gnomAD |
|
|
CA3960576 rs374926181 |
392 | M>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3960577 rs777327140 |
392 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748849221 CA3960578 |
393 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA365263358 rs1167702721 |
396 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1389845907 CA365263398 |
397 | G>V | No |
ClinGen gnomAD |
|
|
rs1229988137 CA365263413 |
398 | C>R | No |
ClinGen TOPMed |
|
|
CA365263459 rs1305117323 |
400 | I>V | No |
ClinGen gnomAD |
|
|
CA365263491 rs1325854942 |
402 | I>V | No |
ClinGen TOPMed |
|
|
CA365263513 rs1583369737 |
403 | M>T | No |
ClinGen Ensembl |
|
|
rs980567945 CA145248954 |
404 | A>D | No |
ClinGen Ensembl |
|
|
rs745614090 CA3960581 |
406 | I>L | No |
ClinGen ExAC gnomAD |
|
|
rs776652999 CA3960583 |
406 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs200015784 CA3960582 |
406 | I>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 412 | G>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3960584 rs748396674 |
414 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs1229673167 CA365263743 |
415 | D>H | No |
ClinGen gnomAD |
|
|
CA145248986 rs927485098 |
416 | V>I | No |
ClinGen TOPMed |
|
|
rs1461785409 CA365263792 |
417 | S>F | No |
ClinGen TOPMed |
|
|
rs1297308952 CA365263805 |
418 | Q>R | No |
ClinGen gnomAD |
|
|
rs769967047 CA3960585 |
419 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA3960586 rs142185010 |
420 | I>T | No |
ClinGen ESP ExAC gnomAD |
|
|
rs766949038 CA3960588 |
424 | L>H | No |
ClinGen ExAC gnomAD |
|
|
rs1452691883 CA365263907 |
425 | G>R | No |
ClinGen TOPMed |
|
|
CA365263975 rs1243296836 |
428 | S>A | No |
ClinGen gnomAD |
|
|
rs1464968282 CA365263995 |
429 | I>V | No |
ClinGen gnomAD |
|
|
rs1019139769 CA145249003 |
430 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA365264041 rs1187469522 |
431 | M>I | No |
ClinGen gnomAD |
|
|
CA3960590 rs759918927 |
432 | T>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA3960591 rs767925471 |
433 | V>I | No |
ClinGen ExAC TOPMed |
|
|
CA365264111 rs1446142780 |
436 | P>S | No |
ClinGen gnomAD |
|
|
CA145249013 rs755387519 |
437 | I>N | No |
ClinGen Ensembl |
|
|
rs369043875 CA3960606 |
439 | G>E | No |
ClinGen ESP ExAC gnomAD |
|
|
rs774929205 CA3960607 COSM3828805 |
442 | R>C | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA3960608 rs760077720 |
442 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3960610 rs775897118 |
446 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs1562438453 CA365265512 |
447 | S>P | No |
ClinGen Ensembl |
|
|
rs1458276970 CA365265625 |
450 | V>A | No |
ClinGen gnomAD |
|
|
CA145250384 rs973488715 |
453 | Y>C | No |
ClinGen Ensembl |
|
|
rs1425202402 CA365265695 |
453 | Y>H | No |
ClinGen gnomAD |
|
|
rs933149812 CA145250394 |
454 | L>F | No |
ClinGen TOPMed |
|
|
CA3960613 rs753502851 |
455 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs115674232 CA3960614 |
457 | V>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3960616 rs749991521 |
459 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs764723535 CA3960615 |
459 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1281128739 CA365265844 |
460 | L>F | No |
ClinGen gnomAD |
|
|
rs1461555791 CA365265859 |
461 | I>F | No |
ClinGen gnomAD |
|
|
CA365265871 rs1298874438 |
461 | I>T | No |
ClinGen gnomAD |
|
|
CA365265918 rs1375790016 |
463 | G>D | No |
ClinGen gnomAD |
|
| TCGA novel | 464 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM378461 rs1348235492 CA365265947 |
464 | A>V | lung [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
CA3960617 rs758331918 |
466 | L>I | No |
ClinGen ExAC gnomAD |
|
|
CA365266010 rs1287225839 |
467 | C>W | No |
ClinGen TOPMed |
|
|
CA3960618 rs779895396 |
468 | F>C | No |
ClinGen ExAC TOPMed |
|
|
rs375453220 CA3960619 |
470 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA3960621 rs114460402 |
473 | H>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1185844026 CA365266167 |
475 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
rs771344204 CA3960623 |
476 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs1182122206 CA365266239 |
478 | R>K | No |
ClinGen gnomAD |
|
|
CA145250429 rs983630341 |
481 | S>G | No |
ClinGen gnomAD |
|
|
rs377472794 CA3960624 CA365266313 |
481 | S>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1248754004 CA365266320 |
482 | K>E | No |
ClinGen gnomAD |
|
| TCGA novel | 482 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3960626 rs560761254 |
485 | G>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA3960629 rs761042630 |
492 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA3960628 rs183836560 |
492 | M>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA365266536 rs183836560 |
492 | M>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3960627 rs577347196 |
492 | M>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA365266603 rs1346775482 |
495 | N>T | No |
ClinGen TOPMed gnomAD |
|
|
CA3960631 rs777047845 |
496 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
rs1055759712 CA145250460 |
496 | Q>R | No |
ClinGen Ensembl |
|
|
rs761444142 CA3960633 |
497 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA365266695 rs762400362 |
499 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754749723 CA3960638 |
503 | S>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA365266762 rs751462110 |
503 | S>A | No |
ClinGen ExAC gnomAD |
|
|
CA3960637 rs751462110 |
503 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA3960639 rs767413245 |
505 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs17072442 VAR_037874 CA3960640 |
508 | K>Q | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA365266873 rs1199642859 |
510 | E>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
No associated diseases with Q8TF71
6 GO annotations of cellular component
| Name | Definition |
|---|---|
| basolateral plasma membrane | The region of the plasma membrane that includes the basal end and sides of the cell. Often used in reference to animal polarized epithelial membranes, where the basal membrane is the part attached to the extracellular matrix, or in plant cells, where the basal membrane is defined with respect to the zygotic axis. |
| cell junction | A cellular component that forms a specialized region of connection between two or more cells, or between a cell and the extracellular matrix, or between two membrane-bound components of a cell, such as flagella. |
| 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. |
| integral component of plasma membrane | The component of the plasma 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. |
| intracellular membrane-bounded organelle | Organized structure of distinctive morphology and function, bounded by a single or double lipid bilayer membrane and occurring within the cell. Includes the nucleus, mitochondria, plastids, vacuoles, and vesicles. Excludes the plasma membrane. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
6 GO annotations of molecular function
| Name | Definition |
|---|---|
| amino acid transmembrane transporter activity | Enables the transfer of amino acids from one side of a membrane to the other. Amino acids are organic molecules that contain an amino group and a carboxyl group. |
| aromatic amino acid transmembrane transporter activity | Enables the transfer of aromatic amino acids from one side of a membrane to the other. Aromatic amino acids have an aromatic ring. |
| L-phenylalanine transmembrane transporter activity | Enables the transfer of L-phenylalanine from one side of a membrane to the other. L-phenylalanine is 2-amino-3-phenylpropanoic acid. |
| L-tryptophan transmembrane transporter activity | Enables the transfer of L-tryptophan from one side of a membrane to the other. Tryptophan is 2-amino-3-(1H-indol-3-yl)propanoic acid. |
| L-tyrosine transmembrane transporter activity | Enables the transfer of L-tyrosine from one side of a membrane to the other. L-tyrosine is 2-amino-3-(4-hydroxyphenyl)propanoic acid. |
| thyroid hormone transmembrane transporter activity | Enables the transfer of thyroid hormones from one side of a membrane to the other. Thyroid hormone are any of the compounds secreted by the thyroid gland, largely thyroxine and triiodothyronine. |
5 GO annotations of biological process
| Name | Definition |
|---|---|
| amino acid transport | The directed movement of amino acids, organic acids containing one or more amino substituents, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. |
| aromatic amino acid transport | The directed movement of aromatic amino acids, amino acids with aromatic ring, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. |
| thyroid hormone generation | The formation of either of the compounds secreted by the thyroid gland, mainly thyroxine and triiodothyronine. This is achieved by the iodination and joining of tyrosine molecules to form the precursor thyroglobin, proteolysis of this precursor gives rise to the thyroid hormones. |
| thyroid hormone transport | The directed movement of thyroid hormone into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. |
| thyroid-stimulating hormone secretion | The regulated release of thyroid-stimulating hormone, a peptide hormone that stimulates the activity of the thyroid gland, from secretory granules in the anterior pituitary. |
8 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| P57788 | SLC16A3 | Monocarboxylate transporter 4 | Gallus gallus (Chicken) | PR |
| P36021 | SLC16A2 | Monocarboxylate transporter 8 | Homo sapiens (Human) | PR |
| Q8R0M8 | Slc16a4 | Monocarboxylate transporter 5 | Mus musculus (Mouse) | PR |
| O70324 | Slc16a2 | Monocarboxylate transporter 8 | Mus musculus (Mouse) | PR |
| O35308 | Slc16a8 | Monocarboxylate transporter 3 | Mus musculus (Mouse) | PR |
| P57787 | Slc16a3 | Monocarboxylate transporter 4 | Mus musculus (Mouse) | PR |
| O70461 | Slc16a8 | Monocarboxylate transporter 3 | Rattus norvegicus (Rat) | PR |
| A1L1W9 | slc16a10 | Monocarboxylate transporter 10 | Danio rerio (Zebrafish) (Brachydanio rerio) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MVLSQEEPDS | ARGTSEAQPL | GPAPTGAAPP | PGPGPSDSPE | AAVEKVEVEL | AGPATAEPHE |
| 70 | 80 | 90 | 100 | 110 | 120 |
| PPEPPEGGWG | WLVMLAAMWC | NGSVFGIQNA | CGVLFVSMLE | TFGSKDDDKM | VFKTAWVGSL |
| 130 | 140 | 150 | 160 | 170 | 180 |
| SMGMIFFCCP | IVSVFTDLFG | CRKTAVVGAA | VGFVGLMSSS | FVSSIEPLYL | TYGIIFACGC |
| 190 | 200 | 210 | 220 | 230 | 240 |
| SFAYQPSLVI | LGHYFKKRLG | LVNGIVTAGS | SVFTILLPLL | LRVLIDSVGL | FYTLRVLCIF |
| 250 | 260 | 270 | 280 | 290 | 300 |
| MFVLFLAGFT | YRPLATSTKD | KESGGSGSSL | FSRKKFSPPK | KIFNFAIFKV | TAYAVWAVGI |
| 310 | 320 | 330 | 340 | 350 | 360 |
| PLALFGYFVP | YVHLMKHVNE | RFQDEKNKEV | VLMCIGVTSG | VGRLLFGRIA | DYVPGVKKVY |
| 370 | 380 | 390 | 400 | 410 | 420 |
| LQVLSFFFIG | LMSMMIPLCS | IFGALIAVCL | IMGLFDGCFI | SIMAPIAFEL | VGAQDVSQAI |
| 430 | 440 | 450 | 460 | 470 | 480 |
| GFLLGFMSIP | MTVGPPIAGL | LRDKLGSYDV | AFYLAGVPPL | IGGAVLCFIP | WIHSKKQREI |
| 490 | 500 | 510 | |||
| SKTTGKEKME | KMLENQNSLL | SSSSGMFKKE | SDSII |