Q99457
PR
Gene name |
NAP1L3 (BNAP) |
Protein name |
Nucleosome assembly protein 1-like 3 |
Names |
|
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:4675 |
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 Q99457
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q99457-F1 | Predicted | AlphaFoldDB |
310 variants for Q99457
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA413987442 rs1432120987 COSM388794 |
5 | D>Y | lung [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs982103855 CA332936566 |
9 | V>I | No |
ClinGen Ensembl |
|
|
COSM1161960 rs760945470 CA10467673 |
10 | S>L | kidney Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs772293013 CA10467672 |
11 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs772293013 CA10467671 |
11 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1260820377 CA413987371 |
15 | H>R | No |
ClinGen TOPMed |
|
|
CA413987359 rs1237410891 |
17 | V>F | No |
ClinGen gnomAD |
|
|
rs1274817954 CA413987353 |
18 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 20 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10467669 rs774159327 |
21 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768554262 CA10467668 |
22 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs1016128221 CA332936565 |
23 | A>P | No |
ClinGen Ensembl |
|
|
rs1187068140 CA413987313 |
24 | S>G | No |
ClinGen TOPMed |
|
|
CA413987302 rs749236135 |
25 | S>* | No |
ClinGen ExAC gnomAD |
|
|
CA10467667 rs749236135 COSM1469898 |
25 | S>L | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA413987297 rs1423773860 |
26 | T>S | No |
ClinGen TOPMed |
|
| TCGA novel | 27 | S>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 29 | S>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA413987260 rs1243004037 |
31 | E>D | No |
ClinGen gnomAD |
|
|
CA413987245 rs1378292664 |
33 | S>Y | No |
ClinGen gnomAD |
|
|
CA10467664 rs369510120 |
38 | S>F | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1445050415 CA413987196 |
40 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
rs755775133 CA10467663 |
41 | S>N | No |
ClinGen 1000Genomes ExAC |
|
|
rs1303086427 CA413987179 |
42 | T>I | No |
ClinGen gnomAD |
|
|
rs1381740226 CA413987182 |
42 | T>S | No |
ClinGen gnomAD |
|
|
CA10467662 rs148673858 |
44 | D>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10467661 rs756992591 |
45 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs1395279566 CA413987139 |
48 | S>G | No |
ClinGen TOPMed |
|
|
COSM26964 rs377497549 CA332936563 |
49 | S>N | skin [Cosmic] | No |
ClinGen cosmic curated ESP gnomAD |
|
CA413987125 rs1418765271 |
50 | S>G | No |
ClinGen TOPMed |
|
|
rs1293478592 CA413987113 |
51 | T>S | No |
ClinGen TOPMed |
|
|
CA332936561 rs973091496 |
52 | S>N | No |
ClinGen TOPMed |
|
|
rs1283567687 CA413987104 |
53 | G>S | No |
ClinGen TOPMed |
|
|
CA10467652 rs750030880 |
55 | S>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA10467650 rs755496970 |
56 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA332936560 rs190447192 |
57 | G>S | No |
ClinGen 1000Genomes TOPMed |
|
|
rs754317513 RCV000974459 |
57 | G>missing | No |
ClinVar dbSNP |
|
|
CA413987061 rs1176627126 |
59 | G>A | No |
ClinGen gnomAD |
|
|
rs766911140 CA10467643 |
59 | G>C | No |
ClinGen ExAC TOPMed |
|
|
COSM1559164 rs766911140 CA10467644 |
59 | G>S | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed |
|
CA413987058 rs1410550662 |
60 | S>G | No |
ClinGen TOPMed |
|
| TCGA novel | 60 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1182713480 CA413987054 |
60 | S>R | No |
ClinGen gnomAD |
|
|
rs756086573 CA10467640 |
60 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA10467637 rs758655977 |
61 | S>G | No |
ClinGen 1000Genomes |
|
|
rs753291433 CA332936559 |
61 | S>T | No |
ClinGen 1000Genomes |
|
|
rs750521102 CA10467635 |
62 | S>G | No |
ClinGen ExAC |
|
|
CA10467630 rs62641622 |
64 | S>G | No |
ClinGen 1000Genomes TOPMed |
|
|
rs767682634 CA10467628 |
64 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA332936557 rs62641622 |
64 | S>R | No |
ClinGen 1000Genomes TOPMed |
|
| TCGA novel | 65 | S>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA413987016 rs1253012201 |
66 | G>S | No |
ClinGen TOPMed |
|
|
rs62635803 CA10467620 |
66 | G>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1323923437 CA413987011 |
67 | S>C | No |
ClinGen gnomAD |
|
|
CA10467618 rs762947325 |
67 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1029296098 CA332936556 |
68 | T>S | No |
ClinGen TOPMed |
|
|
CA10467613 rs775226866 |
69 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10467612 rs769786203 |
69 | S>T | No |
ClinGen ExAC |
|
|
rs745323704 CA10467611 |
71 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs1400094303 CA413986972 |
73 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
CA413986970 rs1400094303 |
73 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
rs776311937 CA10467610 |
73 | R>S | No |
ClinGen ExAC |
|
|
rs149908317 CA10467607 |
75 | Y>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA332936555 rs144990323 |
75 | Y>H | No |
ClinGen ESP |
|
|
CA413986948 rs1372676546 |
77 | K>E | No |
ClinGen gnomAD |
|
|
CA10467606 rs779414158 |
77 | K>N | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 78 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA413986917 rs1235003184 |
81 | P>L | No |
ClinGen TOPMed |
|
|
rs771951109 CA10467605 |
81 | P>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs943713936 CA332936554 |
83 | P>L | No |
ClinGen Ensembl |
|
|
CA413986880 rs1273726142 |
87 | A>E | No |
ClinGen TOPMed |
|
|
CA332936553 rs996209189 |
88 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1163788167 CA413986876 COSM3694766 |
88 | R>W | Variant assessed as Somatic; 6.309e-05 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA413986870 rs1415955429 |
89 | R>P | No |
ClinGen gnomAD |
|
|
rs756672363 CA10467602 |
90 | A>G | Variant assessed as Somatic; 0.0005644 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs780373600 CA10467603 |
90 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1043055561 CA332936552 |
91 | P>S | No |
ClinGen TOPMed |
|
|
rs767637414 CA413986842 |
94 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA10467600 rs767637414 |
94 | T>K | No |
ClinGen ExAC gnomAD |
|
|
rs897039316 COSM276255 CA332936550 |
95 | N>K | large_intestine [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
CA413986823 rs1489748086 |
97 | V>G | No |
ClinGen gnomAD |
|
|
CA332936549 rs757460888 |
98 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA413986820 rs1189165496 |
98 | D>N | No |
ClinGen TOPMed |
|
|
rs757460888 CA10467599 |
98 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10467598 rs751848369 |
102 | Q>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs368668405 CA10467597 |
103 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 105 | R>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs761537765 CA332936548 |
106 | N>S | No |
ClinGen 1000Genomes |
|
| TCGA novel | 119 | D>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA413986663 rs1279721759 |
120 | K>N | No |
ClinGen gnomAD |
|
|
CA10467595 rs775378283 |
122 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10467594 rs765046186 |
123 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
TCGA novel rs1391356026 CA413986633 COSM221368 |
125 | F>L | Variant assessed as Somatic; impact. haematopoietic_and_lymphoid_tissue [NCI-TCGA, Cosmic] | No |
NCI-TCGA ClinGen cosmic curated TOPMed gnomAD |
| TCGA novel | 128 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1057349077 CA332936546 |
129 | I>V | No |
ClinGen TOPMed |
|
| TCGA novel | 130 | H>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs774158182 CA10467592 |
133 | E>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1038681772 CA332936545 |
134 | R>K | No |
ClinGen gnomAD |
|
| TCGA novel | 136 | Y>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA413986539 rs1602773090 |
139 | L>F | No |
ClinGen Ensembl |
|
|
CA10467589 rs772681001 |
139 | L>H | No |
ClinGen ExAC gnomAD |
|
|
rs772681001 CA10467590 |
139 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA10467588 rs771776954 |
140 | N>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10467586 rs780504817 |
140 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs749572346 CA10467587 |
140 | N>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 142 | P>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs770174297 CA10467585 |
145 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1268684638 CA413986499 |
145 | D>G | No |
ClinGen gnomAD |
|
|
CA413986487 rs1467440821 |
147 | R>Q | No |
ClinGen gnomAD |
|
|
rs1481805401 CA413986467 |
150 | I>V | No |
ClinGen gnomAD |
|
|
rs746436960 CA10467584 |
152 | N>H | No |
ClinGen ExAC |
|
|
rs781248158 CA10467583 |
153 | A>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 154 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs757265009 CA10467582 |
155 | Y>H | No |
ClinGen ExAC |
|
|
CA413986425 rs1316905621 |
156 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA413986416 rs1250381525 |
157 | P>H | No |
ClinGen gnomAD |
|
|
rs146182746 CA10467581 |
158 | T>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA413986410 rs1234784077 |
158 | T>R | No |
ClinGen gnomAD |
|
| TCGA novel | 161 | E>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 166 | S>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10467579 rs758680108 |
167 | E>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 169 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA332936544 rs927588459 |
175 | E>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1486486702 CA413986271 |
176 | E>G | No |
ClinGen TOPMed |
|
| TCGA novel | 177 | V>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA413986247 rs1602772831 |
179 | D>G | No |
ClinGen Ensembl |
|
|
CA413986242 rs1487571777 |
180 | N>D | No |
ClinGen TOPMed |
|
|
CA332936543 rs185795189 |
180 | N>S | No |
ClinGen 1000Genomes TOPMed |
|
|
rs143214471 CA332936542 |
181 | T>I | No |
ClinGen ESP TOPMed |
|
|
CA332936541 rs989726248 |
183 | S>I | No |
ClinGen TOPMed |
|
|
rs1166313976 CA413986220 |
183 | S>R | No |
ClinGen gnomAD |
|
|
rs989726248 CA413986221 |
183 | S>T | No |
ClinGen TOPMed |
|
|
rs376550464 CA10467574 |
185 | M>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs753760723 CA10467575 |
185 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs760211210 CA10467573 |
186 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA10467571 rs771588773 |
189 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs761571877 CA10467570 |
191 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775709547 CA10467569 |
195 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770214437 CA10467567 |
201 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs746238904 CA10467566 |
204 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 206 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA332936540 rs938248692 |
207 | K>E | No |
ClinGen Ensembl |
|
|
CA413986047 rs1569341389 |
208 | E>* | No |
ClinGen Ensembl |
|
|
CA413986028 rs1254885398 |
211 | K>E | No |
ClinGen gnomAD |
|
|
CA332936539 rs926908927 |
212 | E>G | No |
ClinGen Ensembl |
|
|
CA413986021 rs1311114900 |
212 | E>K | No |
ClinGen gnomAD |
|
|
rs868704930 CA332936538 |
218 | D>A | No |
ClinGen TOPMed |
|
|
CA10467565 rs781623443 |
218 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 222 | E>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1045686 VAR_024545 CA10467564 |
224 | P>A | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA10467563 rs747022104 |
224 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1045686 CA413985934 |
224 | P>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1374320891 CA413985931 |
225 | K>Q | No |
ClinGen gnomAD |
|
|
rs777948695 CA10467562 |
228 | P>L | No |
ClinGen ExAC |
|
|
CA332936537 rs17853345 |
228 | P>T | No |
ClinGen Ensembl |
|
|
CA10467561 rs758527916 |
229 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs199754587 CA332936536 |
231 | K>Q | No |
ClinGen Ensembl |
|
|
rs1403062161 CA413985889 |
231 | K>T | No |
ClinGen gnomAD |
|
|
rs1234610336 CA413985881 |
232 | A>D | No |
ClinGen TOPMed |
|
|
rs1172054342 CA413985850 |
236 | A>G | No |
ClinGen gnomAD |
|
|
CA332936534 rs372358999 |
237 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs753029498 CA10467559 |
238 | S>Y | No |
ClinGen ExAC |
|
|
CA413985835 rs1487521370 |
239 | K>E | No |
ClinGen TOPMed |
|
|
rs202025994 CA332936533 |
239 | K>I | No |
ClinGen 1000Genomes |
|
|
CA10467558 rs200402343 |
240 | D>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 241 | C>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA413985809 rs1263044690 |
242 | M>R | No |
ClinGen TOPMed |
|
|
CA413985812 rs1159718413 |
242 | M>V | No |
ClinGen gnomAD |
|
|
CA10467557 rs754759962 |
243 | E>Q | No |
ClinGen ExAC |
|
|
CA10467556 rs753707464 |
244 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA413985741 rs1442632874 |
252 | P>A | No |
ClinGen gnomAD |
|
|
CA10467553 rs749873891 |
257 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA413985705 rs1208109902 |
257 | Q>R | No |
ClinGen gnomAD |
|
|
CA10467552 rs180972488 |
258 | V>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA10467551 rs761370346 |
259 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA413985693 rs1569341265 |
259 | K>T | No |
ClinGen Ensembl |
|
|
CA413985671 rs1254982949 |
262 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA332936532 rs1015640915 |
263 | K>T | No |
ClinGen Ensembl |
|
|
CA413985642 rs1285709655 |
266 | P>S | No |
ClinGen gnomAD |
|
|
CA10467547 rs139042252 |
269 | T>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA10467548 rs139042252 |
269 | T>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs952549898 CA332936530 |
272 | K>N | No |
ClinGen Ensembl |
|
|
rs747599916 CA10467545 COSM124664 |
273 | A>T | upper_aerodigestive_tract Variant assessed as Somatic; 0.0 impact. endometrium [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA413985576 rs1299371487 |
276 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs141563590 CA10467543 |
277 | V>A | No |
ClinGen ESP ExAC gnomAD |
|
|
rs367668551 CA10467541 |
280 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1372544898 CA413985549 |
281 | H>D | No |
ClinGen TOPMed |
|
|
CA413985539 rs1367545418 |
282 | K>R | No |
ClinGen gnomAD |
|
|
CA413985523 rs1185287434 |
284 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1314835018 CA413985519 |
285 | P>S | No |
ClinGen TOPMed |
|
| TCGA novel | 289 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1356208728 CA413985487 |
289 | L>R | No |
ClinGen TOPMed |
|
| TCGA novel | 290 | Q>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 291 | D>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA413985469 rs1215866627 |
292 | S>G | No |
ClinGen gnomAD |
|
|
CA413985464 rs1275051408 |
292 | S>R | No |
ClinGen TOPMed |
|
|
CA10467537 rs368572371 |
294 | D>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1342491930 CA413985394 |
302 | K>N | No |
ClinGen gnomAD |
|
| TCGA novel | 304 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs375236477 CA332936527 |
305 | R>S | No |
ClinGen ESP TOPMed |
|
| TCGA novel | 306 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs201849067 CA10467536 |
307 | D>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA413985358 rs1390417602 |
308 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
rs146057748 CA10467535 |
309 | K>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 311 | I>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1478585606 CA413985319 |
313 | D>E | No |
ClinGen gnomAD |
|
|
CA10467533 rs751057472 |
316 | L>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA413985291 rs1248395086 |
317 | I>M | No |
ClinGen gnomAD |
|
|
CA413985257 rs1271000822 |
322 | V>A | No |
ClinGen gnomAD |
|
|
CA10467527 rs773709939 |
328 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA10467528 rs760950815 |
328 | M>L | No |
ClinGen ExAC gnomAD |
|
|
rs931594210 CA332936525 |
328 | M>T | No |
ClinGen TOPMed |
|
|
CA413985214 rs1277153591 |
329 | I>V | No |
ClinGen gnomAD |
|
|
rs1437770576 CA413985207 |
330 | Q>E | No |
ClinGen gnomAD |
|
|
rs772476736 CA10467526 |
331 | K>M | No |
ClinGen ExAC gnomAD |
|
|
rs147062173 CA10467525 |
331 | K>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10467524 rs774610079 |
332 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA413985173 rs1400578993 |
334 | E>D | No |
ClinGen gnomAD |
|
|
CA10467522 rs749574887 |
336 | I>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 336 | I>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10467521 rs779986596 |
338 | K>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1191736435 CA413985137 |
340 | L>S | No |
ClinGen gnomAD |
|
|
rs139021145 CA10467519 COSM276254 |
341 | S>L | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs139021145 CA10467520 |
341 | S>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA413985122 rs1180286354 |
342 | D>E | No |
ClinGen gnomAD |
|
|
rs1458001835 CA413985073 |
349 | K>N | No |
ClinGen gnomAD |
|
|
CA10467517 rs757176706 |
350 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA413985062 rs1204047468 |
351 | G>A | No |
ClinGen gnomAD |
|
|
rs1249739235 CA413985053 |
352 | Q>H | No |
ClinGen TOPMed |
|
|
rs1481712848 CA413985050 |
353 | P>S | No |
ClinGen TOPMed |
|
|
CA413985044 rs1305881550 |
354 | V>L | No |
ClinGen gnomAD |
|
|
rs751040137 CA10467516 |
355 | S>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 371 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs752414767 CA10467513 |
372 | V>E | No |
ClinGen ExAC gnomAD |
|
|
CA10467514 rs758033690 |
372 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs1250899967 CA413984901 |
374 | V>G | No |
ClinGen TOPMed |
|
|
rs1378045499 CA413984891 |
376 | T>A | No |
ClinGen gnomAD |
|
| TCGA novel | 378 | I>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1423016744 CA413984877 |
378 | I>V | No |
ClinGen TOPMed |
|
|
CA332936523 rs982332681 |
383 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
CA332936522 rs200693451 |
386 | N>S | No |
ClinGen gnomAD |
|
|
CA413984803 rs1360434363 |
388 | P>L | No |
ClinGen gnomAD |
|
| TCGA novel | 389 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 392 | W>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10467512 rs764881434 |
393 | G>E | No |
ClinGen ExAC gnomAD |
|
|
COSM1191806 CA10467511 rs761048919 |
394 | W>L | central_nervous_system [Cosmic] | No |
ClinGen cosmic curated ExAC |
|
rs1160337690 CA413984723 |
399 | C>S | No |
ClinGen gnomAD |
|
|
rs1440114004 CA413984714 |
400 | K>T | No |
ClinGen gnomAD |
|
| TCGA novel | 401 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 403 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs750783142 CA10467510 |
405 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA332936521 rs1045695 |
406 | W>R | No |
ClinGen Ensembl |
|
|
rs768033754 CA10467509 |
407 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA332936520 CA413984652 rs376789853 |
409 | G>R | No |
ClinGen gnomAD |
|
| TCGA novel | 413 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10467507 rs774555063 |
416 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs949354219 CA332936519 |
419 | S>G | No |
ClinGen TOPMed |
|
|
CA10467506 rs768919796 |
419 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs763133885 COSM3425023 CA10467505 |
420 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs1169286761 CA413984555 |
424 | T>I | No |
ClinGen TOPMed |
|
|
CA413984550 rs1354915707 |
425 | G>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs867631452 CA413984509 |
431 | P>S | No |
ClinGen TOPMed |
|
|
rs867631452 CA332936518 |
431 | P>T | No |
ClinGen TOPMed |
|
|
CA413984487 rs1221767274 |
434 | V>A | No |
ClinGen gnomAD |
|
|
rs775802060 CA10467504 |
435 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1298403703 CA413984478 |
436 | N>D | No |
ClinGen TOPMed |
|
|
rs952888475 CA332936516 |
436 | N>S | No |
ClinGen Ensembl |
|
|
CA279257 RCV000201423 rs863223375 |
437 | A>G | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs745639264 CA10467502 |
437 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 440 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 445 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 450 | M>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs747006952 CA10467499 |
450 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770881676 CA10467500 |
450 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA413984371 rs1356634476 |
451 | I>T | No |
ClinGen TOPMed |
|
|
rs1218587954 CA413984353 |
454 | L>V | No |
ClinGen TOPMed |
|
|
rs757845587 CA10467497 |
456 | P>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1416247470 CA413984335 |
457 | R>* | No |
ClinGen gnomAD |
|
|
CA10467496 rs752226566 |
457 | R>P | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 457 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 459 | D>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1569340894 CA413984313 |
460 | A>G | No |
ClinGen Ensembl |
|
|
CA10467495 rs778586248 |
460 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778586248 CA413984315 |
460 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA332936514 rs921801366 |
463 | D>N | No |
ClinGen TOPMed |
|
|
CA10467494 rs754626237 |
468 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1228322064 CA413984241 |
470 | Q>H | No |
ClinGen TOPMed |
|
|
rs370847710 CA10467492 |
472 | L>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA10467490 rs752043095 |
473 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 474 | D>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1214109303 CA413984208 |
475 | N>S | No |
ClinGen gnomAD |
|
|
rs764714341 CA10467489 |
480 | S>* | No |
ClinGen ExAC gnomAD |
|
|
rs775746892 CA10467487 |
485 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs377559405 CA10467486 |
486 | G>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA413984134 rs377559405 |
486 | G>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA413984131 rs1400609874 |
487 | E>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 487 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs776475016 CA10467484 |
488 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA10467485 rs759726956 |
488 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs1459269655 CA413984116 |
489 | N>S | No |
ClinGen gnomAD |
|
| TCGA novel | 492 | Y>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM1559169 CA10467483 rs138218471 |
493 | Y>C | lung [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs746813066 CA10467482 |
495 | F>L | No |
ClinGen ExAC |
|
|
rs777637894 CA10467481 |
498 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA10467480 rs772029351 |
500 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs778332322 CA10467478 |
502 | K>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1261670492 CA413984002 |
505 | R>T | No |
ClinGen gnomAD |
|
|
rs748955912 CA10467476 |
506 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA413983989 rs1602771125 |
507 | K>E | No |
ClinGen Ensembl |
|
|
rs1266381799 CA413983985 |
507 | K>Y | No |
ClinGen TOPMed gnomAD |
No associated diseases with Q99457
No regional properties for Q99457
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| No domain, repeats, and functional sites for Q99457 | |||
2 GO annotations of cellular component
| Name | Definition |
|---|---|
| chromatin | The ordered and organized complex of DNA, protein, and sometimes RNA, that forms the chromosome. |
| nucleus | A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent. |
2 GO annotations of molecular function
| Name | Definition |
|---|---|
| chromatin binding | Binding to chromatin, the network of fibers of DNA, protein, and sometimes RNA, that make up the chromosomes of the eukaryotic nucleus during interphase. |
| histone binding | Binding to a histone, any of a group of water-soluble proteins found in association with the DNA of eukaryotic or archaeal chromosomes. They are involved in the condensation and coiling of chromosomes during cell division and have also been implicated in gene regulation and DNA replication. They may be chemically modified (methylated, acetlyated and others) to regulate gene transcription. |
1 GO annotations of biological process
| Name | Definition |
|---|---|
| nucleosome assembly | The aggregation, arrangement and bonding together of a nucleosome, the beadlike structural units of eukaryotic chromatin composed of histones and DNA. |
12 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| P55209 | NAP1L1 | Nucleosome assembly protein 1-like 1 | Homo sapiens (Human) | PR |
| Q01534 | TSPY1 | Testis-specific Y-encoded protein 1 | Homo sapiens (Human) | PR |
| P0CV99 | TSPY4 | Testis-specific Y-encoded protein 4 | Homo sapiens (Human) | PR |
| P0CV98 | TSPY3 | Testis-specific Y-encoded protein 3 | Homo sapiens (Human) | PR |
| P0CW00 | TSPY8 | Testis-specific Y-encoded protein 8 | Homo sapiens (Human) | PR |
| P0CW01 | TSPY10 | Testis-specific Y-encoded protein 10 | Homo sapiens (Human) | PR |
| A6NKD2 | TSPY2 | Testis-specific Y-encoded protein 2 | Homo sapiens (Human) | PR |
| Q8N831 | TSPYL6 | Testis-specific Y-encoded-like protein 6 | Homo sapiens (Human) | PR |
| Q9H2G4 | TSPYL2 | Testis-specific Y-encoded-like protein 2 | Homo sapiens (Human) | PR |
| P0DME0 | SETSIP | Protein SETSIP | Homo sapiens (Human) | SS |
| Q01105 | SET | Protein SET | Homo sapiens (Human) | SS |
| Q9H489 | TSPY26P | Putative testis-specific Y-encoded-like protein 3 | Homo sapiens (Human) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MAEADFKMVS | EPVAHGVAEE | EMASSTSDSG | EESDSSSSSS | STSDSSSSSS | TSGSSSGSGS |
| 70 | 80 | 90 | 100 | 110 | 120 |
| SSSSSGSTSS | RSRLYRKKRV | PEPSRRARRA | PLGTNFVDRL | PQAVRNRVQA | LRNIQDECDK |
| 130 | 140 | 150 | 160 | 170 | 180 |
| VDTLFLKAIH | DLERKYAELN | KPLYDRRFQI | INAEYEPTEE | ECEWNSEDEE | FSSDEEVQDN |
| 190 | 200 | 210 | 220 | 230 | 240 |
| TPSEMPPLEG | EEEENPKENP | EVKAEEKEVP | KEIPEVKDEE | KEVPKEIPEV | KAEEKADSKD |
| 250 | 260 | 270 | 280 | 290 | 300 |
| CMEATPEVKE | DPKEVPQVKA | DDKEQPKATE | AKARAAVRET | HKRVPEERLQ | DSVDLKRARK |
| 310 | 320 | 330 | 340 | 350 | 360 |
| GKPKREDPKG | IPDYWLIVLK | NVDKLGPMIQ | KYDEPILKFL | SDVSLKFSKP | GQPVSYTFEF |
| 370 | 380 | 390 | 400 | 410 | 420 |
| HFLPNPYFRN | EVLVKTYIIK | AKPDHNDPFF | SWGWEIEDCK | GCKIDWRRGK | DVTVTTTQSR |
| 430 | 440 | 450 | 460 | 470 | 480 |
| TTATGEIEIQ | PRVVPNASFF | NFFSPPEIPM | IGKLEPREDA | ILDEDFEIGQ | ILHDNVILKS |
| 490 | 500 | ||||
| IYYYTGEVNG | TYYQFGKHYG | NKKYRK |