Q5TDH0
Gene name |
DDI2 |
Protein name |
Protein DDI1 homolog 2 |
Names |
|
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:84301 |
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
4 structures for Q5TDH0
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 2N7D | NMR | - | A | 1-76 | PDB |
| 4RGH | X-ray | 190 A | A/B | 212-360 | PDB |
| 5K57 | NMR | - | A | 116-212 | PDB |
| AF-Q5TDH0-F1 | Predicted | AlphaFoldDB |
213 variants for Q5TDH0
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
| TCGA novel | 11 | D>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA615850 rs774392792 |
12 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1384906915 CA338570628 |
13 | S>C | No |
ClinGen TOPMed |
|
|
rs1179005250 CA338570682 |
18 | S>F | No |
ClinGen gnomAD |
|
|
rs1453273114 CA338570687 |
19 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
rs993388122 CA18272524 CA338570742 |
24 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
rs772904667 CA615853 |
24 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA338570754 rs373032236 |
25 | F>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA18272529 rs1030186328 |
25 | F>L | No |
ClinGen TOPMed |
|
|
CA338570801 rs1301687624 |
29 | N>S | No |
ClinGen gnomAD |
|
|
CA338570822 rs1236374987 |
31 | R>C | No |
ClinGen gnomAD |
|
|
CA615859 rs764486414 |
36 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA615858 rs764486414 |
36 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1426251270 CA338571002 |
42 | A>T | No |
ClinGen gnomAD |
|
|
CA615863 rs756264292 |
44 | E>* | No |
ClinGen ExAC gnomAD |
|
|
CA338571071 rs1382395013 |
46 | Q>E | No |
ClinGen gnomAD |
|
|
CA338573376 rs774889431 |
47 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA615880 rs769311230 |
47 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA615882 rs762325900 |
48 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA338573414 rs190145902 |
49 | Y>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA615883 rs190145902 |
49 | Y>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1384277523 COSM1319832 CA338573595 |
57 | N>S | ovary Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs1307400915 CA338573732 |
63 | S>F | No |
ClinGen gnomAD |
|
|
CA615887 rs77782333 |
66 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA615888 rs755177299 |
67 | K>* | No |
ClinGen ExAC gnomAD |
|
|
rs755177299 CA615889 |
67 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA338573782 rs752722490 |
67 | K>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA615890 rs752722490 |
67 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1570967814 CA338573801 |
68 | D>E | No |
ClinGen Ensembl |
|
|
CA615892 rs777917292 |
68 | D>N | No |
ClinGen ExAC |
|
|
rs150610844 CA338573828 |
70 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs921001720 CA18277636 |
70 | D>G | No |
ClinGen Ensembl |
|
|
rs1570967828 CA338573848 |
71 | V>G | No |
ClinGen Ensembl |
|
|
CA18277638 rs913479339 |
72 | V>L | No |
ClinGen Ensembl |
|
|
CA338573874 rs1193627726 |
73 | I>F | No |
ClinGen TOPMed |
|
|
rs1193627726 CA338573863 |
73 | I>V | No |
ClinGen TOPMed |
|
|
CA18277639 rs374425147 |
75 | R>Q | No |
ClinGen ESP TOPMed gnomAD |
|
| TCGA novel | 77 | K>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs144340720 CA615895 |
79 | N>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1172758195 CA338573997 |
81 | D>H | No |
ClinGen gnomAD |
|
|
CA338574039 rs202121145 |
83 | R>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs202121145 CA615896 |
83 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA615897 rs769348446 |
85 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA338574090 rs1360520897 |
87 | Q>H | No |
ClinGen gnomAD |
|
|
rs757208866 CA615898 |
88 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA18277641 rs942711022 |
90 | N>D | No |
ClinGen Ensembl |
|
|
CA338574455 rs1341668545 |
92 | P>L | No |
ClinGen gnomAD |
|
|
CA338574444 rs1163691797 |
92 | P>S | No |
ClinGen TOPMed |
|
|
CA338574447 rs1163691797 |
92 | P>T | No |
ClinGen TOPMed |
|
|
rs779619064 CA615917 |
93 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs535427500 CA18282287 |
96 | F>S | No |
ClinGen Ensembl |
|
|
CA615919 rs768110369 |
99 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs773869764 CA338574948 |
100 | A>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs773869764 CA615920 |
100 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs371977898 CA615921 |
106 | S>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA615922 rs764466841 |
107 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA338575049 rs1218866996 |
107 | P>S | No |
ClinGen gnomAD |
|
|
rs1218866996 CA338575045 |
107 | P>T | No |
ClinGen gnomAD |
|
|
rs140092977 CA615925 |
108 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA615924 rs140092977 COSM2084672 |
108 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA615923 rs564313462 |
108 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA615926 rs757729580 COSM1194696 |
110 | R>C | lung [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs148633078 CA615927 |
110 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA338575115 rs1433275542 |
111 | Q>H | No |
ClinGen gnomAD |
|
|
CA338575136 rs1570970400 |
113 | P>Q | No |
ClinGen Ensembl |
|
|
rs1157565702 CA338575162 |
115 | T>A | No |
ClinGen gnomAD |
|
|
CA615928 rs764221560 |
115 | T>R | No |
ClinGen ExAC gnomAD |
|
|
CA615929 rs746374554 |
117 | Q>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA338575219 rs757198316 |
118 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs757198316 CA615930 |
118 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs532223617 CA615931 |
119 | H>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs750222182 CA338575245 |
120 | S>* | No |
ClinGen ExAC gnomAD |
|
|
rs750222182 CA615932 |
120 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1199146683 CA338575248 |
121 | S>P | No |
ClinGen TOPMed |
|
|
rs1263185583 CA338575265 |
122 | P>L | No |
ClinGen gnomAD |
|
|
rs1437621829 CA338575275 |
123 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
CA338575327 rs1446115383 |
128 | S>P | No |
ClinGen TOPMed |
|
|
rs748839324 CA615935 |
129 | P>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA338575359 rs748839324 |
129 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA615934 rs779927649 |
129 | P>S | No |
ClinGen ExAC gnomAD |
|
|
COSM1295317 CA338575368 rs1416854324 |
130 | Q>* | Variant assessed as Somatic; impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
CA18282351 rs1007597309 |
130 | Q>R | No |
ClinGen Ensembl |
|
|
CA18282354 rs943607068 |
132 | L>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1206771546 CA338575409 |
132 | L>W | No |
ClinGen gnomAD |
|
|
CA338575440 rs1291945173 |
134 | N>S | No |
ClinGen gnomAD |
|
|
rs1247301536 CA338575473 |
136 | A>G | No |
ClinGen gnomAD |
|
|
rs1452177258 CA338575464 |
136 | A>T | No |
ClinGen gnomAD |
|
|
rs771412314 CA615939 |
139 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1000212771 CA18282377 |
141 | M>T | No |
ClinGen TOPMed |
|
|
CA615940 rs777052167 |
141 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs1570970480 CA338575597 |
143 | L>V | No |
ClinGen Ensembl |
|
|
rs865796587 CA338575614 |
144 | A>G | No |
ClinGen gnomAD |
|
|
rs1225575960 CA338575612 |
144 | A>S | No |
ClinGen TOPMed |
|
|
rs865796587 CA18282385 |
144 | A>V | No |
ClinGen gnomAD |
|
|
rs1422219205 CA338575628 |
145 | N>S | No |
ClinGen gnomAD |
|
|
rs746213909 CA615941 |
146 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746213909 CA338575649 |
146 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA338575644 rs1307767204 |
146 | P>S | No |
ClinGen TOPMed |
|
|
CA18282387 rs972192119 |
149 | L>M | No |
ClinGen TOPMed |
|
|
rs1375179886 CA338575734 |
150 | S>F | No |
ClinGen gnomAD |
|
|
COSM898045 CA18282409 rs1053156819 |
155 | R>C | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
rs763211597 CA615945 |
155 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA615946 rs368189349 |
156 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA615949 rs767454817 |
162 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA338575906 rs1198808826 |
164 | L>F | No |
ClinGen gnomAD |
|
|
CA615951 rs750285872 COSM310502 |
165 | S>C | lung [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs750285872 CA615950 |
165 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754242472 CA18282428 |
165 | S>T | No |
ClinGen Ensembl |
|
|
CA338576082 rs1570972882 |
173 | R>T | No |
ClinGen Ensembl |
|
|
rs551131914 CA18284700 |
174 | V>L | No |
ClinGen 1000Genomes |
|
|
CA338576095 rs1570972889 |
175 | L>R | No |
ClinGen Ensembl |
|
|
rs1318333908 CA338576127 |
180 | Q>E | No |
ClinGen TOPMed |
|
|
CA18284702 rs922851617 |
181 | D>E | No |
ClinGen TOPMed |
|
|
CA615976 rs777089239 |
182 | R>* | No |
ClinGen ExAC gnomAD |
|
|
rs777089239 CA615977 |
182 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs756578455 CA615978 |
182 | R>Q | No |
ClinGen ExAC TOPMed |
|
|
CA338576143 rs1570972905 |
183 | A>T | No |
ClinGen Ensembl |
|
|
rs769099374 CA615981 |
184 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA615980 rs749651325 |
184 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs1282349622 CA338576167 |
187 | Q>K | No |
ClinGen TOPMed gnomAD |
|
|
rs748318737 CA615983 |
190 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs772339357 CA615984 |
191 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA615985 rs773160744 |
191 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1349592093 CA338576225 |
196 | D>N | No |
ClinGen gnomAD |
|
|
CA338576273 rs1557615291 |
202 | A>V | No |
ClinGen Ensembl |
|
| TCGA novel | 204 | A>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA338576290 rs1557615300 |
205 | K>E | No |
ClinGen Ensembl |
|
|
rs199886079 CA18284773 |
205 | K>R | No |
ClinGen 1000Genomes |
|
|
CA338576324 rs1277952417 |
209 | D>V | No |
ClinGen TOPMed |
|
|
rs1489539935 CA338576330 |
210 | I>K | No |
ClinGen gnomAD |
|
|
rs1441214266 CA338576328 |
210 | I>V | No |
ClinGen TOPMed |
|
|
rs770750343 CA615987 |
211 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs1314068129 CA338576889 |
220 | T>A | No |
ClinGen gnomAD |
|
|
rs758837543 CA616021 |
226 | A>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 231 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA338577059 rs1209727040 |
234 | V>M | No |
ClinGen gnomAD |
|
|
rs1235762935 CA338577102 |
238 | I>V | No |
ClinGen gnomAD |
|
|
CA616025 rs781184565 |
244 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs781184565 CA338577178 |
244 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA616026 rs746015730 |
245 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA338578395 rs1477574744 |
257 | M>T | No |
ClinGen gnomAD |
|
|
CA338578506 rs1170661072 |
262 | Q>* | No |
ClinGen gnomAD |
|
|
CA18293187 rs374058645 |
267 | R>G | No |
ClinGen ESP |
|
|
rs763390859 CA616041 |
276 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764463034 CA616042 |
276 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs764463034 CA338578838 |
276 | R>P | No |
ClinGen ExAC gnomAD |
|
|
rs1300606561 COSM898056 CA338578846 |
277 | R>Q | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA18293213 rs6669070 |
278 | W>R | No |
ClinGen Ensembl |
|
|
rs1165850708 CA338578886 |
279 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA338578954 rs1386776120 |
285 | V>L | No |
ClinGen gnomAD |
|
|
rs938357515 CA18293234 |
287 | T>I | No |
ClinGen gnomAD |
|
|
COSM218341 rs1369959431 CA338579005 |
289 | K>N | pancreas [Cosmic] | No |
ClinGen cosmic curated gnomAD |
| TCGA novel | 289 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 293 | R>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs750482430 CA616046 |
296 | L>I | No |
ClinGen ExAC gnomAD |
|
|
rs754927091 CA616068 |
299 | V>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 300 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA338579974 rs1367413243 |
300 | Q>E | No |
ClinGen gnomAD |
|
|
CA338579986 rs1472728171 |
300 | Q>H | No |
ClinGen gnomAD |
|
| TCGA novel | 304 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs760728983 CA18298260 |
309 | S>F | No |
ClinGen Ensembl |
|
|
rs747919609 CA616070 |
311 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA616071 rs771951356 |
312 | I>L | No |
ClinGen ExAC gnomAD |
|
|
rs777733245 CA616072 |
314 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1398346703 CA338580237 |
314 | E>V | No |
ClinGen gnomAD |
|
|
rs1056577268 CA18298272 |
320 | M>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 322 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs770495140 CA616074 |
326 | M>I | No |
ClinGen ExAC |
|
|
CA338580509 rs1210367910 |
326 | M>V | No |
ClinGen TOPMed |
|
|
CA616075 rs776201705 |
329 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs746867512 CA616092 |
333 | S>A | No |
ClinGen ExAC gnomAD |
|
|
rs535658184 CA616093 |
333 | S>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs920969914 CA18300084 |
335 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA338581404 rs1201647951 |
337 | K>T | No |
ClinGen gnomAD |
|
|
CA616095 rs147540527 |
338 | K>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA338581433 rs1365098616 |
340 | V>I | No |
ClinGen TOPMed |
|
|
CA18300102 rs1023503619 |
341 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA338581454 rs1193604934 |
342 | V>M | No |
ClinGen gnomAD |
|
|
rs772629723 CA616099 |
343 | I>F | No |
ClinGen ExAC gnomAD |
|
|
CA18300150 rs369260788 |
343 | I>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs773548713 CA616100 |
343 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs890895394 CA18300151 |
344 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA616103 rs776675686 |
347 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA338581494 rs1399191853 |
349 | Q>K | No |
ClinGen TOPMed |
|
|
CA616106 rs147295688 |
356 | G>A | No |
ClinGen ESP ExAC gnomAD |
|
|
rs758406834 CA616107 |
360 | E>A | No |
ClinGen ExAC gnomAD |
|
|
CA338581616 rs139539436 |
363 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA616109 rs751379257 |
363 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs139539436 CA616108 |
363 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1284500174 CA338581630 |
364 | L>F | No |
ClinGen gnomAD |
|
|
rs1570987677 CA338581661 |
368 | A>T | No |
ClinGen Ensembl |
|
|
rs1431618713 CA338581674 |
369 | G>E | No |
ClinGen gnomAD |
|
|
rs1195759721 CA338581678 |
370 | R>G | No |
ClinGen gnomAD |
|
|
rs781075305 CA616111 |
370 | R>K | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 371 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1273098095 CA338581701 |
372 | D>N | No |
ClinGen TOPMed |
|
|
rs1439155450 CA338581713 |
373 | V>I | No |
ClinGen gnomAD |
|
|
CA338581725 rs755808289 |
374 | R>L | No |
ClinGen ExAC gnomAD |
|
|
CA616113 rs755808289 |
374 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA616112 rs373473419 |
374 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs150526409 CA616114 |
375 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1388334338 CA338581737 |
376 | E>Q | No |
ClinGen gnomAD |
|
|
rs543837249 CA616117 |
382 | E>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA338581822 rs1557622271 |
383 | L>V | No |
ClinGen Ensembl |
|
|
rs1027637294 CA18300243 |
387 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA338581871 rs1252197053 |
387 | L>H | No |
ClinGen TOPMed |
|
|
rs1310884009 CA338581896 |
388 | Q>H | No |
ClinGen gnomAD |
|
|
CA338581966 rs1197577226 |
391 | A>V | No |
ClinGen TOPMed |
|
|
CA616119 rs771151057 |
394 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781405060 CA616140 |
396 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs200176580 CA616141 |
396 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA18304236 rs1051664341 |
398 | K>* | No |
ClinGen Ensembl |
|
|
rs770119825 CA616142 |
400 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
No associated diseases with Q5TDH0
3 GO annotations of cellular component
| Name | Definition |
|---|---|
| chromosome | A structure composed of a very long molecule of DNA and associated proteins (e.g. histones) that carries hereditary information. |
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| nucleoplasm | That part of the nuclear content other than the chromosomes or the nucleolus. |
3 GO annotations of molecular function
| Name | Definition |
|---|---|
| aspartic-type endopeptidase activity | Catalysis of the hydrolysis of internal, alpha-peptide bonds in a polypeptide chain by a mechanism in which a water molecule bound by the side chains of aspartic residues at the active center acts as a nucleophile. |
| identical protein binding | Binding to an identical protein or proteins. |
| ubiquitin binding | Binding to ubiquitin, a protein that when covalently bound to other cellular proteins marks them for proteolytic degradation. |
5 GO annotations of biological process
| Name | Definition |
|---|---|
| cellular response to hydroxyurea | Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a hydroxyurea stimulus. |
| proteasomal protein catabolic process | The chemical reactions and pathways resulting in the breakdown of a protein or peptide by hydrolysis of its peptide bonds that is mediated by the proteasome. |
| protein processing | Any protein maturation process achieved by the cleavage of a peptide bond or bonds within a protein. Protein maturation is the process leading to the attainment of the full functional capacity of a protein. |
| regulation of DNA stability | Any process that modulates the stability of DNA. |
| regulation of protein stability | Any process that affects the structure and integrity of a protein, altering the likelihood of its degradation or aggregation. |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MLLTVYCVRR | DLSEVTFSLQ | VDADFELHNF | RALCELESGI | PAAESQIVYA | ERPLTDNHRS |
| 70 | 80 | 90 | 100 | 110 | 120 |
| LASYGLKDGD | VVILRQKENA | DPRPPVQFPN | LPRIDFSSIA | VPGTSSPRQR | QPPGTQQSHS |
| 130 | 140 | 150 | 160 | 170 | 180 |
| SPGEITSSPQ | GLDNPALLRD | MLLANPHELS | LLKERNPPLA | EALLSGDLEK | FSRVLVEQQQ |
| 190 | 200 | 210 | 220 | 230 | 240 |
| DRARREQERI | RLFSADPFDL | EAQAKIEEDI | RQQNIEENMT | IAMEEAPESF | GQVVMLYINC |
| 250 | 260 | 270 | 280 | 290 | 300 |
| KVNGHPVKAF | VDSGAQMTIM | SQACAERCNI | MRLVDRRWAG | IAKGVGTQKI | IGRVHLAQVQ |
| 310 | 320 | 330 | 340 | 350 | 360 |
| IEGDFLPCSF | SILEEQPMDM | LLGLDMLKRH | QCSIDLKKNV | LVIGTTGSQT | TFLPEGELPE |
| 370 | 380 | 390 | |||
| CARLAYGAGR | EDVRPEEIAD | QELAEALQKS | AEDAERQKP |