P0DJG4
PR
Gene name |
THEGL |
Protein name |
Testicular haploid expressed gene protein-like |
Names |
Theg spermatid-like protein |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:100506564 |
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 P0DJG4
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-P0DJG4-F1 | Predicted | AlphaFoldDB |
364 variants for P0DJG4
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs1363646644 CA356994057 |
3 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1420396322 CA356994075 |
5 | E>D | No |
ClinGen gnomAD |
|
|
CA97591207 rs1009022910 |
6 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
CA356994081 rs1377409954 |
6 | F>S | No |
ClinGen TOPMed |
|
|
rs1163573166 CA356994108 |
10 | S>F | No |
ClinGen gnomAD |
|
|
rs1296815509 CA356994113 |
11 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1040069329 CA97591216 |
12 | P>L | No |
ClinGen gnomAD |
|
| TCGA novel | 13 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA356994137 rs1578222535 |
15 | V>G | No |
ClinGen Ensembl |
|
|
rs1360730484 CA356994146 |
17 | D>N | No |
ClinGen gnomAD |
|
|
CA356994157 rs1263685258 |
18 | G>E | No |
ClinGen gnomAD |
|
|
rs1487007998 CA356994171 |
20 | V>D | No |
ClinGen gnomAD |
|
|
CA97591226 rs540788188 |
20 | V>I | No |
ClinGen 1000Genomes |
|
|
rs1187317483 CA356994184 |
22 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA356994182 rs1187317483 |
22 | T>K | No |
ClinGen TOPMed gnomAD |
|
|
CA97591256 rs999797017 |
24 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1185156603 CA356994203 |
25 | S>C | No |
ClinGen gnomAD |
|
|
rs1342860937 CA356994199 |
25 | S>P | No |
ClinGen TOPMed |
|
|
rs1185156603 CA356994202 |
25 | S>Y | No |
ClinGen gnomAD |
|
|
CA356994217 rs1443859639 |
27 | C>* | No |
ClinGen gnomAD |
|
|
CA356994215 rs1385804590 |
27 | C>F | No |
ClinGen gnomAD |
|
|
CA356994213 rs1233617656 |
27 | C>G | No |
ClinGen TOPMed |
|
|
rs1349804096 CA356994225 |
29 | E>K | No |
ClinGen TOPMed |
|
|
CA356994246 rs1346442449 |
31 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
CA356994268 rs1308108211 |
34 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA97591265 rs973009429 |
35 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1031239244 CA97591262 |
35 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs918871191 CA97591267 |
36 | V>L | No |
ClinGen TOPMed |
|
|
rs934230448 CA97591272 |
37 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA356994283 rs1317535827 |
37 | L>P | No |
ClinGen gnomAD |
|
|
rs958220702 CA97591285 |
38 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1228244056 CA356994292 |
39 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA356994300 rs1310736463 |
40 | L>H | No |
ClinGen gnomAD |
|
|
rs1378891227 CA356994307 |
41 | D>G | No |
ClinGen TOPMed |
|
|
rs1156430065 CA356994311 |
42 | T>S | No |
ClinGen TOPMed |
|
|
rs186125050 CA2931685 |
43 | H>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA356994327 rs1260392235 |
44 | R>K | No |
ClinGen gnomAD |
|
|
rs969502775 CA97591324 |
45 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA356994339 rs1243524836 |
46 | L>V | No |
ClinGen gnomAD |
|
|
rs780588760 CA2931687 |
48 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs79029109 CA2931689 |
50 | E>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA97591339 rs982571379 |
50 | E>K | No |
ClinGen gnomAD |
|
|
CA356994380 rs1419188874 |
52 | P>A | No |
ClinGen gnomAD |
|
|
CA356994382 rs1157676516 |
52 | P>H | No |
ClinGen gnomAD |
|
| TCGA novel | 52 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1409323530 CA356994385 |
53 | E>K | No |
ClinGen gnomAD |
|
|
CA2931690 rs773863752 |
56 | E>* | No |
ClinGen ExAC TOPMed |
|
|
rs773863752 CA356994409 |
56 | E>K | No |
ClinGen ExAC TOPMed |
|
|
CA356994419 rs1470712439 |
57 | N>S | No |
ClinGen gnomAD |
|
|
rs771787139 CA2931692 |
59 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1578222882 CA356994496 |
64 | V>G | No |
ClinGen Ensembl |
|
|
rs1216144312 CA356994508 |
65 | R>S | No |
ClinGen TOPMed |
|
|
CA356994517 rs1354770828 |
66 | E>V | No |
ClinGen TOPMed |
|
|
rs930510934 CA97591367 |
67 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
CA356994541 rs1560704545 |
68 | D>A | No |
ClinGen Ensembl |
|
|
rs1376114223 CA356994535 |
68 | D>N | No |
ClinGen gnomAD |
|
|
CA97591371 rs1050273820 |
69 | Q>E | No |
ClinGen Ensembl |
|
|
rs28550555 CA356994563 |
70 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1287733759 CA356994588 |
71 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1417209127 CA356994617 |
74 | E>K | No |
ClinGen TOPMed |
|
|
CA97591399 rs944483144 |
75 | E>* | No |
ClinGen TOPMed gnomAD |
|
|
CA356994651 rs1263584164 |
76 | C>F | No |
ClinGen TOPMed gnomAD |
|
|
CA356994648 rs1263584164 |
76 | C>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs1460684152 CA356994691 |
79 | P>L | No |
ClinGen gnomAD |
|
|
CA356994734 rs1234555905 |
83 | Y>H | No |
ClinGen gnomAD |
|
|
rs1480886906 CA356994769 |
85 | P>R | No |
ClinGen gnomAD |
|
|
CA97591417 rs902874361 |
86 | H>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs998507453 CA97591418 |
88 | P>T | No |
ClinGen Ensembl |
|
|
CA356994805 rs1388939883 |
89 | Y>H | No |
ClinGen TOPMed gnomAD |
|
|
CA97591424 rs1052720273 |
94 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs894055807 CA97591453 |
95 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1488500145 CA356994933 |
100 | P>R | No |
ClinGen TOPMed |
|
|
rs1286544043 CA356994945 |
101 | Y>* | No |
ClinGen TOPMed |
|
|
CA356994969 rs1356801333 |
103 | L>P | No |
ClinGen gnomAD |
|
|
CA356994979 rs1208313651 |
104 | H>R | No |
ClinGen TOPMed |
|
|
CA356994991 rs1355695745 |
105 | G>E | No |
ClinGen TOPMed |
|
|
CA356995029 rs1235668448 |
108 | A>V | No |
ClinGen TOPMed |
|
|
CA356995050 rs1348684663 |
110 | P>L | No |
ClinGen gnomAD |
|
|
rs1307563102 CA356995047 |
110 | P>S | No |
ClinGen gnomAD |
|
|
rs753818677 CA2931696 |
111 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs1363834573 CA356995078 |
113 | L>R | No |
ClinGen gnomAD |
|
|
CA2931697 rs759609487 |
114 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1278127111 CA356995103 |
115 | A>V | No |
ClinGen TOPMed |
|
|
rs935372587 CA97591485 |
117 | E>D | No |
ClinGen Ensembl |
|
|
CA356995129 rs527365645 |
118 | P>H | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs527365645 CA97591487 |
118 | P>L | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs1437468626 CA356995127 |
118 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1437468626 CA356995123 |
118 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
CA97591504 rs1003603492 |
119 | R>C | No |
ClinGen gnomAD |
|
|
rs1003603492 CA356995139 |
119 | R>G | No |
ClinGen gnomAD |
|
|
rs1560704789 CA356995148 |
119 | R>L | No |
ClinGen Ensembl |
|
| TCGA novel | 121 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA356995185 rs1490688231 |
123 | H>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1313293605 CA356995188 |
123 | H>P | No |
ClinGen gnomAD |
|
|
CA356995183 rs1490688231 |
123 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs1389371130 CA356995203 |
124 | T>I | No |
ClinGen TOPMed |
|
|
CA2931699 rs751696409 |
126 | E>* | No |
ClinGen ExAC gnomAD |
|
|
rs757382366 CA2931700 |
126 | E>V | No |
ClinGen ExAC gnomAD |
|
|
rs566917720 CA2931702 |
127 | P>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1411064385 CA356995246 |
128 | R>H | No |
ClinGen gnomAD |
|
|
CA356995249 rs1411064385 |
128 | R>L | No |
ClinGen gnomAD |
|
|
CA97591523 rs538124880 |
129 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1197000327 CA356995258 |
129 | K>R | No |
ClinGen TOPMed |
|
|
CA356995279 rs1303777473 |
131 | R>C | No |
ClinGen gnomAD |
|
|
CA97591543 rs556464382 |
131 | R>L | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 132 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1434570686 CA356995290 |
132 | E>V | No |
ClinGen gnomAD |
|
|
rs1268143977 CA356995303 |
134 | K>R | No |
ClinGen TOPMed |
|
|
CA356995317 rs1271771780 |
136 | T>A | No |
ClinGen gnomAD |
|
|
CA356995320 rs1215568666 |
136 | T>I | No |
ClinGen TOPMed |
|
|
rs911412096 CA97591549 |
137 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA97591559 rs952002753 |
138 | L>F | No |
ClinGen Ensembl |
|
|
rs1361444942 CA356995336 |
139 | L>F | No |
ClinGen gnomAD |
|
|
rs986422835 CA97591583 |
139 | L>P | No |
ClinGen gnomAD |
|
|
rs1288441734 CA356995351 |
141 | S>R | No |
ClinGen gnomAD |
|
|
CA356995356 rs1257925934 |
142 | A>V | No |
ClinGen TOPMed |
|
|
rs1578223513 CA356995378 |
145 | M>I | No |
ClinGen Ensembl |
|
|
rs1341874020 CA356995373 |
145 | M>L | No |
ClinGen TOPMed |
|
|
CA356995381 rs1217472069 |
146 | I>V | No |
ClinGen gnomAD |
|
|
rs552547877 CA97591587 |
147 | S>P | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA97591595 rs1043491310 |
148 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
CA356995392 rs1413825074 |
148 | P>T | No |
ClinGen gnomAD |
|
|
rs1446903788 CA356995401 |
149 | S>C | No |
ClinGen gnomAD |
|
|
rs1446903788 CA356995402 |
149 | S>F | No |
ClinGen gnomAD |
|
|
rs1388878893 CA356995398 |
149 | S>P | No |
ClinGen gnomAD |
|
|
rs1164372223 CA356995404 |
150 | L>V | No |
ClinGen gnomAD |
|
|
rs1397538783 CA356995419 |
152 | T>I | No |
ClinGen TOPMed |
|
|
rs1403858385 CA356995433 |
154 | A>V | No |
ClinGen gnomAD |
|
|
COSM3767917 rs775544075 CA356995447 |
157 | R>W | liver [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs892760030 CA97591662 |
159 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
rs574498221 CA2931707 |
163 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA356995490 rs1246609236 |
164 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
CA356996633 rs1326056743 |
165 | A>V | No |
ClinGen gnomAD |
|
|
rs772884718 CA2931711 |
167 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1414223005 CA356996653 |
168 | V>A | No |
ClinGen TOPMed |
|
|
rs1336678621 CA356996722 |
175 | K>E | No |
ClinGen TOPMed |
|
|
CA97604608 rs761295251 |
176 | C>S | No |
ClinGen Ensembl |
|
|
CA97607687 rs781762619 |
180 | R>G | No |
ClinGen Ensembl |
|
|
CA356997579 rs1257725696 |
187 | S>* | No |
ClinGen TOPMed |
|
|
rs765300475 CA2931717 |
191 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1343573773 CA356997612 |
192 | Q>* | No |
ClinGen gnomAD |
|
|
CA356997621 rs1263752673 |
193 | W>* | No |
ClinGen TOPMed |
|
|
rs539696578 CA2931718 |
194 | G>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1275493955 CA356997638 |
196 | P>T | No |
ClinGen gnomAD |
|
|
rs1342003071 CA356998363 |
200 | L>M | No |
ClinGen gnomAD |
|
|
CA356998375 rs1425992164 |
201 | F>L | No |
ClinGen TOPMed |
|
|
CA356998399 rs1209446607 |
202 | W>* | No |
ClinGen gnomAD |
|
|
rs1488965278 CA356998397 |
202 | W>L | No |
ClinGen gnomAD |
|
|
rs1294038608 CA356998388 |
202 | W>R | No |
ClinGen gnomAD |
|
| TCGA novel | 206 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA356998473 rs1265048967 |
207 | P>L | No |
ClinGen gnomAD |
|
|
CA356998480 rs1430113003 |
208 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA2931727 rs755428097 |
209 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA97613287 rs748868689 |
209 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
CA356998505 rs779368390 |
210 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779368390 CA2931728 |
210 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs564140790 CA97613313 |
211 | V>I | No |
ClinGen 1000Genomes TOPMed |
|
|
rs564140790 CA97613327 |
211 | V>L | No |
ClinGen 1000Genomes TOPMed |
|
|
CA356998521 rs1349943704 |
212 | S>P | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 213 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1457136537 CA356998539 |
213 | Q>R | No |
ClinGen gnomAD |
|
|
CA356998643 rs1437745007 |
222 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
CA97613355 rs1019587105 |
225 | E>D | No |
ClinGen Ensembl |
|
|
CA356998710 rs111931941 |
226 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1365194191 CA356998706 |
226 | N>S | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 226 | N>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA356998715 rs1341952628 |
227 | L>I | No |
ClinGen TOPMed |
|
|
rs1290177366 CA356998723 |
227 | L>R | No |
ClinGen gnomAD |
|
|
rs191379694 CA2931732 |
228 | A>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1218704399 CA356998753 |
230 | P>A | No |
ClinGen gnomAD |
|
|
CA97613374 rs746661579 |
231 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1483336148 CA356998783 |
232 | E>A | No |
ClinGen gnomAD |
|
|
CA356998795 rs1181387247 |
233 | V>L | No |
ClinGen gnomAD |
|
|
rs543740938 CA2931733 |
234 | S>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs543740938 CA97613379 |
234 | S>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs776529552 CA2931734 |
235 | C>* | No |
ClinGen ExAC gnomAD |
|
|
CA97613402 rs990941176 |
235 | C>R | No |
ClinGen TOPMed gnomAD |
|
|
CA356998821 rs1209124745 |
235 | C>Y | No |
ClinGen gnomAD |
|
|
CA2931735 rs115337450 |
236 | H>Y | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2931737 rs775467842 |
237 | Y>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs182183255 CA2931736 |
237 | Y>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA356998863 rs1578250333 |
238 | V>I | No |
ClinGen Ensembl |
|
| TCGA novel | 239 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs762866288 CA2931738 |
239 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA356998898 rs1365190117 |
240 | N>K | No |
ClinGen gnomAD |
|
|
CA97613436 rs975768708 |
240 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
CA357000917 rs1482849517 |
243 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
CA357000915 rs1482849517 |
243 | Q>K | No |
ClinGen TOPMed gnomAD |
|
|
CA357000935 rs1472743980 |
244 | Y>* | No |
ClinGen gnomAD |
|
|
rs1252035546 CA357000929 |
244 | Y>C | No |
ClinGen gnomAD |
|
|
CA357000924 rs1179676561 |
244 | Y>H | No |
ClinGen gnomAD |
|
|
rs942814714 CA97623567 |
245 | Y>S | No |
ClinGen TOPMed |
|
|
rs1226319781 CA357000958 |
246 | H>L | No |
ClinGen gnomAD |
|
|
rs1157921361 CA357000955 |
246 | H>Y | No |
ClinGen gnomAD |
|
|
CA2931745 rs545336743 |
247 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA357000985 rs1342264290 |
248 | C>G | No |
ClinGen gnomAD |
|
|
CA357001021 rs1178608223 |
251 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1399990900 CA357001075 |
255 | W>R | No |
ClinGen TOPMed |
|
|
CA357001098 rs1380716356 |
256 | E>A | No |
ClinGen TOPMed |
|
|
CA357001104 rs1249553485 |
256 | E>D | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 257 | I>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs28398253 CA2931746 |
260 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs531376774 CA97623573 |
266 | P>S | No |
ClinGen 1000Genomes gnomAD |
|
|
CA97623575 rs548291728 |
268 | K>E | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs1348797116 CA357001267 |
269 | R>K | No |
ClinGen gnomAD |
|
|
rs1279065882 CA357001285 |
270 | I>M | No |
ClinGen gnomAD |
|
|
rs1220745662 CA357001281 |
270 | I>T | No |
ClinGen gnomAD |
|
|
CA357001289 rs1215749868 |
271 | Q>E | No |
ClinGen TOPMed |
|
|
rs758846150 CA2931747 |
274 | S>L | No |
ClinGen ExAC gnomAD |
|
|
rs1207911045 CA357001332 |
275 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1207911045 CA357001329 |
275 | Q>K | No |
ClinGen TOPMed gnomAD |
|
|
rs561367319 CA97623585 |
277 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1161691524 CA357001384 |
279 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1311531850 CA357001423 |
282 | Q>R | No |
ClinGen TOPMed |
|
|
CA357001440 rs1180762641 |
284 | L>P | No |
ClinGen gnomAD |
|
|
CA357001442 rs1481173938 |
285 | L>I | No |
ClinGen TOPMed gnomAD |
|
|
rs751065982 CA2931749 |
286 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs764531241 CA97661683 |
287 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
rs896121245 CA97623596 |
287 | R>T | No |
ClinGen TOPMed gnomAD |
|
|
CA357022367 rs1488024859 |
288 | P>T | No |
ClinGen TOPMed |
|
|
CA2931754 rs779772675 |
290 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1392571872 CA357022489 |
296 | D>N | No |
ClinGen gnomAD |
|
|
CA97661684 rs1044314232 |
296 | D>V | No |
ClinGen gnomAD |
|
|
CA2931755 rs749180467 |
297 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA357022512 rs749180467 |
297 | S>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA2931756 rs549227551 |
299 | R>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1003299996 CA357022535 |
299 | R>P | No |
ClinGen gnomAD |
|
|
rs1003299996 CA97661685 |
299 | R>Q | No |
ClinGen gnomAD |
|
|
rs1434039791 CA357022540 |
300 | I>V | No |
ClinGen gnomAD |
|
|
CA357022567 rs1347030277 |
302 | D>Y | No |
ClinGen gnomAD |
|
|
CA97661686 rs1054309388 |
304 | S>F | No |
ClinGen TOPMed |
|
|
CA357022596 rs1322217608 |
304 | S>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1201022787 CA357022616 |
305 | P>L | No |
ClinGen gnomAD |
|
|
rs149702721 CA2931760 |
306 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs771036024 CA2931759 COSM3392919 |
306 | R>W | pancreas [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs754329736 CA97661688 |
307 | I>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1228352981 CA357022656 |
309 | Q>E | No |
ClinGen gnomAD |
|
|
rs1288730662 CA357022658 |
309 | Q>P | No |
ClinGen gnomAD |
|
|
rs1212284574 CA357022663 |
310 | L>I | No |
ClinGen gnomAD |
|
|
rs1401225704 CA357022681 |
313 | A>T | No |
ClinGen TOPMed |
|
|
rs188780027 CA2931761 |
315 | G>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 317 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1405788069 CA357022717 |
318 | P>Q | No |
ClinGen TOPMed |
|
|
CA357022716 rs1246690780 |
318 | P>T | No |
ClinGen gnomAD |
|
|
CA357022727 rs1163859115 |
319 | N>K | No |
ClinGen gnomAD |
|
|
CA357022724 rs1473832193 |
319 | N>S | No |
ClinGen gnomAD |
|
|
CA357022731 rs1413348848 |
320 | Y>S | No |
ClinGen gnomAD |
|
|
CA2931762 rs765524605 |
321 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
CA357022738 rs1403806380 |
321 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs1477608646 CA357022754 |
323 | S>L | No |
ClinGen TOPMed |
|
|
rs985979813 CA97663098 |
326 | M>I | No |
ClinGen TOPMed |
|
|
CA357024157 rs1404350461 |
326 | M>T | No |
ClinGen gnomAD |
|
|
rs558589427 CA2931766 |
329 | K>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA357024230 rs1411666662 |
331 | S>P | No |
ClinGen TOPMed |
|
|
CA357024253 rs1338157253 |
334 | T>N | No |
ClinGen TOPMed gnomAD |
|
|
CA357024259 rs1261091290 |
336 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
CA357024262 rs1288609608 |
336 | S>N | No |
ClinGen gnomAD |
|
|
rs960397172 CA357024270 |
337 | A>E | No |
ClinGen TOPMed gnomAD |
|
|
rs960397172 CA97663101 |
337 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA357024276 rs1259333136 |
338 | I>T | No |
ClinGen gnomAD |
|
|
CA97663102 rs992934976 |
340 | T>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1201508502 CA357024298 |
341 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA97663105 rs867765210 |
343 | I>N | No |
ClinGen gnomAD |
|
|
CA97663104 rs924204207 |
343 | I>V | No |
ClinGen TOPMed |
|
|
CA357024338 rs1235698328 |
344 | I>M | No |
ClinGen TOPMed |
|
|
CA97663106 rs757196526 |
344 | I>T | No |
ClinGen gnomAD |
|
|
rs1207322668 CA357024377 |
347 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs984307900 CA357024400 |
349 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
rs984307900 CA97663108 |
349 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA357024413 rs1332331557 |
350 | R>K | No |
ClinGen gnomAD |
|
|
CA97663109 rs992404797 |
352 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1478337801 CA357024448 |
352 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
CA357024486 rs180830285 |
355 | G>C | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA357024484 rs180830285 |
355 | G>R | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA97663110 rs180830285 |
355 | G>S | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA97663111 rs948238950 |
357 | C>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs778344573 CA97663112 |
358 | Y>C | No |
ClinGen Ensembl |
|
|
rs1431114643 CA357024521 |
358 | Y>H | No |
ClinGen gnomAD |
|
| TCGA novel | 362 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1308039090 CA357024583 |
362 | R>K | No |
ClinGen gnomAD |
|
|
rs1369640555 CA357024595 |
363 | S>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1369640555 CA357024592 |
363 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
CA97663113 rs964284258 |
365 | L>M | No |
ClinGen Ensembl |
|
|
rs1048836843 CA97663114 |
366 | P>S | No |
ClinGen TOPMed |
|
|
rs1305379782 CA357024648 |
367 | I>V | No |
ClinGen gnomAD |
|
|
CA97663115 rs369837717 |
368 | R>C | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA2931769 rs114411813 |
368 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs559133384 CA357024747 |
370 | V>I | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs559133384 CA97663599 |
370 | V>L | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs1298471790 CA357024757 |
371 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA357024763 rs1341581271 |
372 | P>L | No |
ClinGen gnomAD |
|
|
rs778681642 CA2931775 CA357024786 |
376 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1578292024 CA357024789 |
376 | I>R | No |
ClinGen Ensembl |
|
|
CA357024785 rs778681642 |
376 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 378 | K>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA357024806 rs1424712300 |
379 | P>A | No |
ClinGen TOPMed |
|
|
CA97663600 rs1036342408 |
380 | S>R | No |
ClinGen Ensembl |
|
|
rs748146057 CA2931776 |
382 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs185540070 CA97663601 |
382 | R>Q | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs1049196446 CA97663602 |
384 | I>M | No |
ClinGen TOPMed |
|
| TCGA novel | 386 | L>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA357024853 rs544812410 |
387 | A>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs889288014 CA97663603 |
387 | A>T | No |
ClinGen Ensembl |
|
|
CA2931778 rs544812410 |
387 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1560342832 CA357024857 |
388 | K>T | No |
ClinGen Ensembl |
|
|
rs1440250923 CA357024869 |
390 | K>E | No |
ClinGen TOPMed |
|
|
CA97663605 rs902125343 |
393 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
CA357024895 rs1426243545 |
394 | Q>K | No |
ClinGen gnomAD |
|
|
rs1234617433 CA357024899 |
394 | Q>R | No |
ClinGen TOPMed |
|
|
rs1350445172 CA357024915 |
396 | Y>F | No |
ClinGen TOPMed |
|
|
rs997834154 CA97663606 |
396 | Y>H | No |
ClinGen gnomAD |
|
|
CA97663608 rs1030712483 |
400 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA97663607 rs1030712483 |
400 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
CA97663609 rs966580533 |
400 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
rs956408152 CA97663610 |
401 | D>N | No |
ClinGen Ensembl |
|
| TCGA novel | 402 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2931779 rs759691036 |
403 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs1392698579 CA357025000 |
409 | A>D | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 410 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1437672596 CA357025014 |
412 | H>D | No |
ClinGen gnomAD |
|
|
rs189562677 CA2931780 |
412 | H>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA357025029 rs1361798883 |
414 | K>I | No |
ClinGen gnomAD |
|
|
CA357025030 rs1361798883 |
414 | K>R | No |
ClinGen gnomAD |
|
| TCGA novel | 415 | A>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs369366130 CA97663611 |
417 | P>L | No |
ClinGen TOPMed |
|
|
rs369366130 CA357025050 |
417 | P>R | No |
ClinGen TOPMed |
|
|
rs775879169 CA357025053 |
418 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2931781 rs775879169 |
418 | R>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1314931855 CA357025058 |
419 | I>V | No |
ClinGen gnomAD |
|
|
CA97663612 rs796111932 |
422 | L>P | No |
ClinGen Ensembl |
|
|
rs1156618294 CA357025085 |
423 | A>P | No |
ClinGen TOPMed |
|
|
CA97663613 rs1022105329 |
425 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA357025106 rs1408603400 |
426 | N>S | No |
ClinGen TOPMed |
|
|
rs1244311277 CA357025122 |
428 | R>K | No |
ClinGen gnomAD |
|
|
rs1244311277 CA357025121 |
428 | R>M | No |
ClinGen gnomAD |
|
|
CA357025140 rs1266842153 |
429 | A>D | No |
ClinGen gnomAD |
|
|
CA357025137 rs1192968626 |
429 | A>T | No |
ClinGen TOPMed |
|
|
rs764561221 CA2931783 |
432 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs974507974 CA97663859 |
432 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1304716174 CA357025194 |
437 | D>E | No |
ClinGen gnomAD |
|
|
rs182450599 CA2931784 |
437 | D>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA357025197 rs1379953625 |
438 | P>A | No |
ClinGen gnomAD |
|
|
CA97663860 rs568843643 |
439 | D>E | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs1291693318 CA357025210 |
440 | V>I | No |
ClinGen gnomAD |
|
|
CA2931785 rs543317400 |
441 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1228786120 CA357025222 |
442 | K>Q | No |
ClinGen gnomAD |
|
| TCGA novel | 443 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA357025522 rs767079919 |
450 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2931786 rs767079919 |
450 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 450 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1578294155 CA357025529 |
451 | Q>* | No |
ClinGen Ensembl |
|
|
CA2931787 rs7657459 |
453 | S>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA97663861 rs913146377 |
454 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
CA357025549 rs913146377 |
454 | Q>E | No |
ClinGen TOPMed gnomAD |
|
|
CA357025571 rs1482655054 |
457 | W>* | No |
ClinGen gnomAD |
|
|
CA2931788 rs115350220 |
457 | W>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1347141215 CA357025581 |
458 | E>G | No |
ClinGen TOPMed |
|
|
CA357025586 rs1208026226 |
459 | L>M | No |
ClinGen TOPMed gnomAD |
|
|
CA97663862 rs1043030949 |
459 | L>S | No |
ClinGen Ensembl |
|
|
rs1253526280 CA357025592 |
460 | S>P | No |
ClinGen gnomAD |
|
|
rs1351318790 CA357025610 |
462 | P>L | No |
ClinGen TOPMed |
|
|
rs937405399 CA97663865 |
465 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1314655802 CA357025625 |
465 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
CA357025623 rs937405399 |
465 | R>S | No |
ClinGen TOPMed gnomAD |
No associated diseases with P0DJG4
1 regional properties for P0DJG4
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Tubulin epsilon and delta complex protein 1 domain | 86 - 256 | IPR027996 |
No GO annotations of cellular component
| Name | Definition |
|---|---|
| No GO annotations for cellular component |
No GO annotations of molecular function
| Name | Definition |
|---|---|
| No GO annotations for molecular function |
No GO annotations of biological process
| Name | Definition |
|---|---|
| No GO annotations for biological process |
1 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q9DA15 | Thegl | Testicular haploid expressed gene protein-like | Mus musculus (Mouse) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MENQEFLSSS | APSEVTDGQV | STEISTCSEV | FQKPIVLRIL | DTHRELEESE | DPEKHENPEE |
| 70 | 80 | 90 | 100 | 110 | 120 |
| PEEVREQDQR | DESEECDEPH | ESYEPHAPYA | PHKPRDSYAP | YELHGPHAAP | KLLKAREPRQ |
| 130 | 140 | 150 | 160 | 170 | 180 |
| LRHTREPRKS | REAKETELLP | SAAVMISPSL | ITRAPPRPQL | SFLGANPVSC | DFVRKCFSSR |
| 190 | 200 | 210 | 220 | 230 | 240 |
| KRTPNLSKPK | KQWGTPDRKL | FWGNQDPIRP | VSQGALKAQL | TKRLENLAQP | KEVSCHYVPN |
| 250 | 260 | 270 | 280 | 290 | 300 |
| RAQYYHSCGR | ESVIWEITPP | ALFRQPSKRI | QRLSQPNGFK | RQCLLNRPFS | DNSARDSLRI |
| 310 | 320 | 330 | 340 | 350 | 360 |
| SDPSPRILQL | SVAKGTDPNY | HPSKKMQTKI | SLSTLSAIAT | PRIIELAHPR | IKLEGLCYER |
| 370 | 380 | 390 | 400 | 410 | 420 |
| QRSELPIRPV | PPAAMIAKPS | PRTIALAKSK | SVHQDYLPDR | DAHWPVSYAT | THSKASPRIQ |
| 430 | 440 | 450 | 460 | ||
| ELANPNKRAP | VRIVYYDPDV | FKTKPAALKA | QCSQRIWELS | QPLTR |