Q9Y4W2
PR
Gene name |
LAS1L (MSTP060) |
Protein name |
Ribosomal biogenesis protein LAS1L |
Names |
Protein LAS1 homolog |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:81887 |
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 Q9Y4W2
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 8FL2 | EM | 267 A | BD | 1-734 | PDB |
| 8FL3 | EM | 253 A | BD | 1-734 | PDB |
| 8FL4 | EM | 289 A | BD | 1-734 | PDB |
| AF-Q9Y4W2-F1 | Predicted | AlphaFoldDB |
329 variants for Q9Y4W2
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA10434157 RCV001443922 rs148048579 RCV002539976 |
2 | S>L | Inborn genetic diseases Wilson-Turner syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001252302 rs777611742 |
5 | S>T | Intellectual disability [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1556319125 CA413320490 RCV000622904 |
116 | G>A | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1569443405 CA413320104 RCV000695703 |
168 | D>N | Wilson-Turner syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2069367677 RCV001322559 |
236 | T>A | Wilson-Turner syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000700504 CA10434039 rs750436732 |
239 | D>Y | Wilson-Turner syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001207561 CA10434029 rs762043715 |
252 | V>M | Wilson-Turner syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
| VAR_077824 | 269 | A>G | WTS; unknown pathological significance [UniProt] | Yes | UniProt |
|
RCV000702269 rs745313876 CA10434001 |
313 | G>S | Wilson-Turner syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA10434000 rs137948118 RCV000640511 |
314 | V>I | Variant assessed as Somatic; 0.0 impact. Wilson-Turner syndrome [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000545424 rs867562406 CA329968602 RCV001311396 |
361 | P>R | Wilson-Turner syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs186130633 RCV000818423 CA413317653 |
372 | V>L | Wilson-Turner syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1569438242 RCV000704592 CA413317256 |
401 | R>S | Wilson-Turner syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000824689 CA413317112 rs1602612611 |
413 | G>R | Wilson-Turner syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000415340 CA16043714 RCV000239589 rs1057518699 VAR_077825 |
415 | R>W | Global developmental delay Variant assessed as Somatic; impact. Wilson-Turner syndrome WTS; unknown pathological significance [ClinVar, NCI-TCGA, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl NCI-TCGA dbSNP |
|
CA413316921 RCV001350405 rs1190754458 |
428 | V>M | Wilson-Turner syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000190764 rs797044926 CA204807 |
477 | S>N | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA413315749 rs1556301877 RCV000640512 |
491 | G>D | Wilson-Turner syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA10433905 rs762931496 RCV001239005 |
495 | E>K | Variant assessed as Somatic; 0.0 impact. Wilson-Turner syndrome [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs2068725707 RCV001071545 |
524 | P>A | Wilson-Turner syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002529986 CA10433889 rs148989578 |
564 | V>A | Wilson-Turner syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000804946 CA329965313 rs1006077682 |
569 | K>E | Wilson-Turner syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000533880 rs200862250 RCV001252303 CA10433883 |
579 | V>I | Intellectual disability Wilson-Turner syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs750470319 RCV000640515 |
597 | D>missing | Wilson-Turner syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000550767 CA10433863 rs371394378 RCV002526119 |
631 | G>A | Inborn genetic diseases Wilson-Turner syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV003147487 RCV000498039 rs1556298998 CA413314613 |
654 | R>L | Wilson-Turner syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs900809839 CA329963073 RCV001301824 RCV002223296 |
684 | R>Q | Wilson-Turner syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000558768 CA10433835 rs762602796 |
684 | R>W | Wilson-Turner syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs754948682 CA10434156 |
3 | W>R | No |
ClinGen ExAC gnomAD |
|
|
rs1321459486 CA413321456 |
4 | E>D | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 4 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10434154 rs777611742 |
5 | S>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA413321452 rs1371174502 |
5 | S>C | No |
ClinGen gnomAD |
|
|
CA413321451 rs1371174502 |
5 | S>F | No |
ClinGen gnomAD |
|
|
CA413321448 rs1200858242 |
6 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs949044338 CA329974652 |
8 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA413321426 rs1479181739 |
9 | P>L | No |
ClinGen gnomAD |
|
|
CA413321423 rs1272477882 |
10 | G>A | No |
ClinGen gnomAD |
|
|
CA413321424 rs369494568 |
10 | G>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10434151 rs369494568 |
10 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10434150 rs767193059 |
11 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1483665077 CA413321416 |
12 | G>S | No |
ClinGen gnomAD |
|
| TCGA novel | 13 | S>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10434149 rs761370916 |
14 | Q>H | No |
ClinGen ExAC |
|
|
rs751046552 CA10434148 |
15 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs1348187426 CA413321396 |
15 | G>R | No |
ClinGen TOPMed |
|
|
rs1348187426 TCGA novel CA413321395 |
15 | G>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA329974640 rs868546341 |
16 | M>I | No |
ClinGen Ensembl |
|
|
rs1481807865 CA413321382 |
17 | D>Y | No |
ClinGen gnomAD |
|
|
CA329974635 rs746183638 |
18 | L>I | No |
ClinGen Ensembl |
|
| TCGA novel | 19 | V>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1272867526 CA413321330 |
24 | Y>C | No |
ClinGen gnomAD |
|
|
rs777149132 CA10434145 |
24 | Y>D | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 24 | Y>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA413321323 rs1222744565 |
25 | G>E | No |
ClinGen gnomAD |
|
| TCGA novel | 25 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs771216409 CA10434144 |
26 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA10434143 rs761036447 |
31 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs1408045115 CA413321269 |
33 | S>* | No |
ClinGen gnomAD |
|
|
CA10434141 rs772414321 |
34 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs748292004 CA10434140 |
35 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1416385953 CA413321260 |
35 | P>S | No |
ClinGen gnomAD |
|
|
CA329974543 rs113345668 COSM1558443 |
37 | S>L | lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
rs113345668 CA329974559 |
37 | S>W | No |
ClinGen Ensembl |
|
|
CA413321229 rs1414789278 |
40 | G>D | No |
ClinGen gnomAD |
|
|
rs772131076 CA10434138 |
40 | G>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1431178861 CA413321225 |
41 | I>V | No |
ClinGen TOPMed |
|
|
CA10434137 rs749193090 |
42 | V>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 45 | W>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs372814649 CA10434135 |
47 | S>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA329974502 rs984616739 |
48 | R>G | No |
ClinGen Ensembl |
|
| TCGA novel | 48 | R>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs950624449 CA329974501 |
53 | Q>E | No |
ClinGen gnomAD |
|
|
CA10434132 rs756870977 |
60 | C>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 61 | D>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1372614694 CA413321083 |
61 | D>E | No |
ClinGen gnomAD |
|
|
rs757847657 CA10434129 |
64 | K>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 72 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA413320999 rs200273194 |
73 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1391312798 CA413320993 |
74 | T>M | No |
ClinGen gnomAD |
|
|
CA413320990 rs1400646752 |
75 | V>M | No |
ClinGen gnomAD |
|
| TCGA novel | 77 | R>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 78 | S>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA329973744 rs909764380 |
81 | G>V | No |
ClinGen Ensembl |
|
|
rs1327995923 CA413320708 |
82 | N>I | No |
ClinGen gnomAD |
|
| TCGA novel | 86 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs756997621 CA10434114 |
90 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs746678530 CA10434113 |
91 | T>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 92 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA413320625 rs1162779490 |
96 | R>S | No |
ClinGen TOPMed |
|
| TCGA novel | 98 | K>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1167577938 CA413320581 |
102 | V>I | No |
ClinGen gnomAD |
|
|
CA413320552 rs1569444597 |
106 | L>F | No |
ClinGen Ensembl |
|
|
CA10434111 rs757916031 |
107 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA10434110 rs752240758 |
108 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs766848002 CA10434109 |
111 | L>R | No |
ClinGen ExAC |
|
| TCGA novel | 125 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10434095 rs770719247 |
131 | T>R | No |
ClinGen ExAC |
|
|
rs1046348825 CA329973234 |
134 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1569443996 CA413320341 |
136 | V>I | No |
ClinGen Ensembl |
|
| TCGA novel | 143 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 145 | V>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA329972505 rs1014510438 |
146 | N>D | No |
ClinGen TOPMed |
|
|
CA10434084 rs764261541 |
153 | D>H | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 154 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA413320118 rs1289568725 |
166 | I>V | No |
ClinGen gnomAD |
|
|
RCV000995926 CA413320097 rs1602652648 |
168 | D>E | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
VAR_036587 rs1371889606 CA413320088 COSM33165 |
170 | R>C | large_intestine a colorectal cancer sample; somatic mutation [Cosmic, UniProt] | No |
ClinGen cosmic curated UniProt dbSNP gnomAD |
|
rs1296030130 CA413320085 COSM1468937 |
170 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs199867824 CA329971658 |
178 | D>H | No |
ClinGen Ensembl |
|
| TCGA novel | 182 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 182 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1468001078 CA413319978 |
183 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA10434062 rs752976521 |
184 | Y>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10434061 rs765362982 |
186 | C>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10434060 rs759676837 |
187 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA413319952 COSM1124070 rs1362049229 |
187 | R>H | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs765273681 CA10434057 |
192 | S>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA329971603 rs145897105 COSM1124069 |
195 | E>D | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP NCI-TCGA TOPMed |
|
rs374868626 CA10434056 |
198 | E>G | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1602643693 CA413319846 |
202 | F>V | No |
ClinGen Ensembl |
|
|
rs938448503 CA329971584 |
206 | I>L | No |
ClinGen Ensembl |
|
|
CA10434055 rs767362529 |
206 | I>M | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 207 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs761503065 CA10434054 |
207 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs928375827 CA329971562 |
210 | D>A | No |
ClinGen Ensembl |
|
| TCGA novel | 212 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs768164912 RCV000488167 CA10434052 |
216 | N>D | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs748858269 CA413319737 |
216 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA413319741 rs768164912 |
216 | N>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA413319731 rs1237669878 |
217 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1569442369 CA413319734 |
217 | I>V | No |
ClinGen Ensembl |
|
|
CA413319722 rs1321832659 |
219 | V>I | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 220 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA329971537 rs778389447 |
221 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10434049 rs769389600 |
222 | I>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10434048 rs747523360 |
223 | T>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758854025 CA10434046 |
225 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs748455149 CA10434045 |
229 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA413319637 rs1312229965 |
231 | D>G | No |
ClinGen TOPMed |
|
|
CA10434044 rs779233197 |
231 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779233197 CA413319640 |
231 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1370279567 CA413319629 |
232 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
CA329971486 rs867813453 |
234 | K>E | No |
ClinGen TOPMed |
|
|
CA10434043 rs755168381 |
235 | S>N | No |
ClinGen ExAC |
|
|
CA10434042 rs145338657 |
236 | T>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs756133493 CA10434040 |
237 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs773997389 CA10434036 |
243 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs763933548 CA10434035 |
244 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs1243229256 CA413319542 |
245 | D>E | No |
ClinGen gnomAD |
|
|
CA329971456 rs1020492083 |
245 | D>G | No |
ClinGen TOPMed |
|
|
CA413319535 rs1297931787 |
246 | S>R | No |
ClinGen gnomAD |
|
|
rs762727271 CA10434034 |
246 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA10434033 rs775216960 |
247 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs769442653 CA10434032 |
248 | G>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA |
|
rs1602642457 CA413319517 |
249 | S>I | No |
ClinGen Ensembl |
|
|
COSM1124066 CA10434030 rs367824164 |
250 | E>K | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1367442721 CA413319478 |
255 | H>Y | No |
ClinGen gnomAD |
|
|
rs1354505484 CA413319463 |
257 | K>E | No |
ClinGen gnomAD |
|
|
rs757098456 CA329971417 |
258 | K>R | No |
ClinGen gnomAD |
|
|
CA413319414 rs1390988916 |
264 | E>K | No |
ClinGen gnomAD |
|
|
CA413319393 rs1169903675 |
267 | E>K | No |
ClinGen gnomAD |
|
|
CA413319372 rs1396130543 |
268 | R>G | No |
ClinGen gnomAD |
|
|
rs1173514495 CA413319361 |
269 | A>V | No |
ClinGen gnomAD |
|
|
CA10434015 rs764975723 |
275 | S>* | No |
ClinGen ExAC gnomAD |
|
|
rs770423824 CA10434012 |
282 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746055849 CA10434005 |
283 | V>G | No |
ClinGen ExAC gnomAD |
|
|
rs1202035728 CA413319230 |
287 | F>C | No |
ClinGen TOPMed |
|
|
COSM1293043 rs975468687 CA329970514 |
296 | A>V | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
rs868736913 CA329970511 |
309 | A>T | No |
ClinGen Ensembl |
|
|
CA10434002 rs751466182 |
310 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 316 | C>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA413319036 rs1410871672 |
316 | C>W | No |
ClinGen TOPMed gnomAD |
|
|
CA10433999 rs752507559 |
316 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 317 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 318 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 324 | D>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 333 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA413318141 rs1602617398 |
342 | L>V | No |
ClinGen Ensembl |
|
|
CA10433982 rs748046887 |
345 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs1287574692 CA413317967 |
352 | E>K | No |
ClinGen gnomAD |
|
|
CA10433976 rs781433665 |
353 | V>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1351045440 CA413317881 |
358 | G>D | No |
ClinGen gnomAD |
|
| TCGA novel | 359 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs942530513 CA329968601 |
364 | H>P | No |
ClinGen TOPMed |
|
|
rs186130633 CA10433958 |
372 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 378 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs755816378 CA10433956 |
387 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA329968291 COSM2157206 rs919155075 |
395 | T>M | Variant assessed as Somatic; impact. central_nervous_system [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
rs1602612931 CA413317316 |
397 | A>S | No |
ClinGen Ensembl |
|
|
rs1249886322 CA413317189 |
407 | P>S | No |
ClinGen gnomAD |
|
| TCGA novel | 409 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 410 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 412 | S>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 418 | Y>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1569438142 CA413317036 |
419 | I>V | No |
ClinGen Ensembl |
|
|
CA10433949 rs777030562 |
423 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761006702 CA10433947 |
424 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 425 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 425 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 432 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA329968064 rs756828005 |
435 | R>L | No |
ClinGen ExAC gnomAD |
|
|
rs756828005 CA10433935 |
435 | R>Q | Variant assessed as Somatic; 7.548e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA413316786 rs1227918012 |
435 | R>W | No |
ClinGen TOPMed |
|
|
rs1031189544 CA329968060 |
437 | A>T | No |
ClinGen TOPMed |
|
|
rs1383160458 CA413316754 |
438 | R>C | No |
ClinGen gnomAD |
|
|
rs1338441147 CA413316753 |
438 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1450249341 CA413316746 |
439 | R>* | No |
ClinGen gnomAD |
|
|
rs751038156 CA10433934 |
439 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751038156 CA413316744 |
439 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779338257 CA10433933 |
440 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA413316698 rs1362137552 |
443 | G>D | No |
ClinGen gnomAD |
|
|
CA413316623 RCV000519657 rs1556306730 |
448 | R>I | No |
ClinGen ClinVar Ensembl dbSNP |
|
| TCGA novel | 452 | R>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 453 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1387365726 CA413316516 |
456 | C>Y | No |
ClinGen gnomAD |
|
|
rs1184626606 CA413316500 |
457 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA413316488 rs1262981010 |
458 | A>D | No |
ClinGen TOPMed gnomAD |
|
|
rs750728472 CA10433928 |
458 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA413316485 rs1262981010 |
458 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA329967998 rs1001972342 |
464 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA413316406 rs1359681930 |
465 | M>L | No |
ClinGen gnomAD |
|
| TCGA novel | 472 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 476 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA413316181 rs774516905 |
482 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768581652 CA413316179 |
482 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768581652 CA10433924 |
482 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10433925 rs774516905 |
482 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 486 | K>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10433907 rs751669159 |
494 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA10433904 rs775564303 |
502 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10433903 COSM321356 rs202068829 |
502 | R>H | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA16603271 RCV000432767 rs202068829 |
502 | R>P | No |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
rs1158527408 CA413315643 |
507 | Y>F | No |
ClinGen TOPMed |
|
| TCGA novel | 510 | S>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA413315549 rs1197289111 |
521 | E>K | No |
ClinGen gnomAD |
|
| TCGA novel | 525 | I>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs759374312 CA10433902 |
529 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA413315476 rs151108723 |
532 | L>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs760401786 CA10433900 |
533 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA413315463 rs1602586558 |
534 | S>C | No |
ClinGen Ensembl |
|
|
CA413315447 rs1168800730 |
536 | Y>F | No |
ClinGen gnomAD |
|
|
CA413315451 rs1325663953 |
536 | Y>H | No |
ClinGen gnomAD |
|
|
rs143771475 CA10433898 |
539 | V>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs143771475 CA10433897 |
539 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1336546268 CA413315410 |
541 | P>L | No |
ClinGen gnomAD |
|
|
rs900337260 CA329965385 |
542 | A>P | No |
ClinGen TOPMed |
|
|
CA10433896 rs751656567 |
546 | F>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA10433895 rs775413138 |
547 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA413315370 rs1328649528 |
548 | S>T | No |
ClinGen Ensembl |
|
|
rs1021320235 CA329965381 |
550 | A>T | No |
ClinGen Ensembl |
|
|
rs756714504 CA10433894 |
556 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs781695957 CA10433892 |
560 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781695957 CA413315283 |
560 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757509182 CA10433891 |
561 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs751867288 CA10433890 |
562 | N>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA413315228 rs1435793969 |
568 | E>K | No |
ClinGen gnomAD |
|
|
rs752698040 CA10433887 |
571 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA413315194 rs1325565712 |
572 | K>R | No |
ClinGen gnomAD |
|
|
rs765252004 CA10433885 |
574 | V>G | No |
ClinGen ExAC gnomAD |
|
|
rs1237163395 CA413315145 |
579 | V>A | No |
ClinGen gnomAD |
|
|
CA10433882 rs766171427 |
587 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA413315078 rs1458059904 |
588 | Q>E | No |
ClinGen gnomAD |
|
| TCGA novel | 589 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs760370953 CA10433881 |
593 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1249670946 CA413315026 |
594 | D>E | No |
ClinGen TOPMed |
|
|
CA10433879 rs772981775 |
595 | E>A | No |
ClinGen ExAC gnomAD |
|
|
rs771590533 CA10433878 |
596 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs907040576 CA329965238 |
596 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs368033383 CA10433876 |
598 | E>D | No |
ClinGen 1000Genomes ESP |
|
|
CA413314953 rs1201985040 COSM3722345 |
604 | D>G | upper_aerodigestive_tract [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
CA329965200 rs1044220438 |
605 | R>K | No |
ClinGen Ensembl |
|
|
rs1602585586 CA413314930 |
607 | E>A | No |
ClinGen Ensembl |
|
|
CA413314922 rs1183942252 |
608 | V>G | No |
ClinGen gnomAD |
|
|
rs747791247 CA10433872 |
608 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA413314890 rs1209356426 |
613 | T>I | No |
ClinGen gnomAD |
|
|
CA413314886 rs1367108331 |
614 | G>E | No |
ClinGen TOPMed |
|
|
rs768219082 CA10433870 |
614 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA413314865 rs1286427765 |
617 | S>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA10433866 rs747306514 |
621 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs370120927 CA329965089 |
624 | R>K | No |
ClinGen TOPMed gnomAD |
|
|
rs370120927 CA329965088 |
624 | R>T | No |
ClinGen TOPMed gnomAD |
|
|
rs778107805 CA10433865 |
625 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs542870776 CA329965081 |
627 | A>T | No |
ClinGen Ensembl |
|
|
CA10433864 rs371394378 |
631 | G>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA413314773 rs1319693160 |
632 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1316862979 CA413314776 |
632 | A>T | No |
ClinGen TOPMed |
|
|
rs1319693160 CA413314771 |
632 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs754992775 CA10433861 |
635 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA413314728 rs1447895400 |
639 | Q>E | No |
ClinGen gnomAD |
|
|
CA10433858 rs760556059 |
639 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA10433857 rs772857110 |
640 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA10433845 rs201107712 |
645 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs755113452 CA10433844 |
646 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1458398857 CA413314651 |
648 | D>G | No |
ClinGen TOPMed |
|
|
rs753882262 CA10433843 |
649 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs1201755345 CA413314642 |
650 | F>I | No |
ClinGen gnomAD |
|
| TCGA novel | 652 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA329963173 rs867338874 |
656 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs371070043 CA10433841 |
657 | G>D | No |
ClinGen ESP ExAC gnomAD |
|
|
rs767234199 CA10433839 |
660 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA413314534 rs1218572840 |
666 | M>T | No |
ClinGen gnomAD |
|
| TCGA novel | 667 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs761691423 CA10433838 |
672 | T>N | No |
ClinGen ExAC gnomAD |
|
|
rs751324108 CA10433837 |
677 | D>A | No |
ClinGen ExAC gnomAD |
|
|
RCV000418984 rs1057522039 CA16609203 |
683 | Q>* | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1040782199 CA329963044 |
686 | E>G | No |
ClinGen TOPMed |
|
|
CA413314353 rs1178638347 |
693 | D>Y | No |
ClinGen gnomAD |
|
|
CA413314319 rs1161259414 |
696 | G>V | No |
ClinGen TOPMed |
|
|
CA413314316 rs1234716577 |
697 | L>V | No |
ClinGen gnomAD |
|
|
CA10433825 rs780005821 |
701 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs775900835 CA10433824 |
702 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA413314280 rs1223987444 |
703 | S>G | No |
ClinGen gnomAD |
|
|
CA413314272 rs1330990942 |
704 | G>S | No |
ClinGen TOPMed |
|
|
CA413314263 rs1398336631 |
705 | N>S | No |
ClinGen TOPMed |
|
|
rs1393245424 CA413314255 |
706 | C>Y | No |
ClinGen TOPMed |
|
|
CA10433823 rs750390176 |
708 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs1329018160 CA413314221 |
710 | S>R | No |
ClinGen gnomAD |
|
|
rs143742726 CA10433822 |
712 | S>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 713 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA329961966 rs868126580 |
715 | E>K | No |
ClinGen Ensembl |
|
|
CA10433819 rs751378821 |
722 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs368677383 CA10433818 |
725 | H>Y | No |
ClinGen ESP ExAC TOPMed |
|
|
rs762727361 CA10433817 |
726 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1218391209 CA413314113 |
726 | G>R | No |
ClinGen TOPMed |
|
| TCGA novel | 728 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs746436480 CA329961932 |
729 | T>S | No |
ClinGen Ensembl |
|
|
rs1378756920 CA413314078 |
732 | Q>* | No |
ClinGen gnomAD |
|
|
rs199732016 CA10433816 |
732 | Q>H | No |
ClinGen 1000Genomes ExAC gnomAD |
1 associated diseases with Q9Y4W2
[MIM: 309585]: Intellectual developmental disorder, X-linked, syndromic, Wilson-Turner type (WTS)
A neurologic disorder characterized by severe intellectual disability, dysmorphic facial features, hypogonadism, short stature, and truncal obesity. Affected females have a milder phenotype than affected males. {ECO:0000269|PubMed:25644381}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- A neurologic disorder characterized by severe intellectual disability, dysmorphic facial features, hypogonadism, short stature, and truncal obesity. Affected females have a milder phenotype than affected males. {ECO:0000269|PubMed:25644381}. Note=The disease is caused by variants affecting the gene represented in this entry.
No regional properties for Q9Y4W2
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| No domain, repeats, and functional sites for Q9Y4W2 | |||
Functions
6 GO annotations of cellular component
| Name | Definition |
|---|---|
| Las1 complex | A four subunit complex, that comprises all the necessary RNA processing enzymes (endonuclease, polynucleotide kinase, and exonuclease) to mediate 'cistronic rRNA transcript ITS2 (internal transcribed spacer) cleavage' (GO:0000448). |
| membrane | A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it. |
| MLL1 complex | A protein complex that can methylate lysine-4 of histone H3. MLL1/MLL is the catalytic methyltransferase subunit, and the complex also contains the core components ASH2L, HCFC1/HCF1 WDR5 and RBBP5. |
| nucleolus | A small, dense body one or more of which are present in the nucleus of eukaryotic cells. It is rich in RNA and protein, is not bounded by a limiting membrane, and is not seen during mitosis. Its prime function is the transcription of the nucleolar DNA into 45S ribosomal-precursor RNA, the processing of this RNA into 5.8S, 18S, and 28S components of ribosomal RNA, and the association of these components with 5S RNA and proteins synthesized outside the nucleolus. This association results in the formation of ribonucleoprotein precursors; these pass into the cytoplasm and mature into the 40S and 60S subunits of the ribosome. |
| nucleoplasm | That part of the nuclear content other than the chromosomes or the nucleolus. |
| preribosome, large subunit precursor | A preribosomal complex consisting of 27SA, 27SB, and/or 7S pre-rRNA, 5S rRNA, ribosomal proteins including late-associating large subunit proteins, and associated proteins; a precursor of the eukaryotic cytoplasmic large ribosomal subunit. |
2 GO annotations of molecular function
| Name | Definition |
|---|---|
| endonuclease activity | Catalysis of the hydrolysis of ester linkages within nucleic acids by creating internal breaks. |
| RNA binding | Binding to an RNA molecule or a portion thereof. |
2 GO annotations of biological process
| Name | Definition |
|---|---|
| maturation of 5.8S rRNA | Any process involved in the maturation of a precursor 5.8S ribosomal RNA (rRNA) molecule into a mature 5.8S rRNA molecule. |
| maturation of LSU-rRNA | Any process involved in the maturation of a precursor Large SubUnit (LSU) ribosomal RNA (rRNA) molecule into a mature LSU-rRNA molecule. |
1 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| A2BE28 | Las1l | Ribosomal biogenesis protein LAS1L | Mus musculus (Mouse) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MSWESGAGPG | LGSQGMDLVW | SAWYGKCVKG | KGSLPLSAHG | IVVAWLSRAE | WDQVTVYLFC |
| 70 | 80 | 90 | 100 | 110 | 120 |
| DDHKLQRYAL | NRITVWRSRS | GNELPLAVAS | TADLIRCKLL | DVTGGLGTDE | LRLLYGMALV |
| 130 | 140 | 150 | 160 | 170 | 180 |
| RFVNLISERK | TKFAKVPLKC | LAQEVNIPDW | IVDLRHELTH | KKMPHINDCR | RGCYFVLDWL |
| 190 | 200 | 210 | 220 | 230 | 240 |
| QKTYWCRQLE | NSLRETWELE | EFREGIEEED | QEEDKNIVVD | DITEQKPEPQ | DDGKSTESDV |
| 250 | 260 | 270 | 280 | 290 | 300 |
| KADGDSKGSE | EVDSHCKKAL | SHKELYERAR | ELLVSYEEEQ | FTVLEKFRYL | PKAIKAWNNP |
| 310 | 320 | 330 | 340 | 350 | 360 |
| SPRVECVLAE | LKGVTCENRE | AVLDAFLDDG | FLVPTFEQLA | ALQIEYEDGQ | TEVQRGEGTD |
| 370 | 380 | 390 | 400 | 410 | 420 |
| PKSHKNVDLN | DVLVPKPFSQ | FWQPLLRGLH | SQNFTQALLE | RMLSELPALG | ISGIRPTYIL |
| 430 | 440 | 450 | 460 | 470 | 480 |
| RWTVELIVAN | TKTGRNARRF | SAGQWEARRG | WRLFNCSASL | DWPRMVESCL | GSPCWASPQL |
| 490 | 500 | 510 | 520 | 530 | 540 |
| LRIIFKAMGQ | GLPDEEQEKL | LRICSIYTQS | GENSLVQEGS | EASPIGKSPY | TLDSLYWSVK |
| 550 | 560 | 570 | 580 | 590 | 600 |
| PASSSFGSEA | KAQQQEEQGS | VNDVKEEEKE | EKEVLPDQVE | EEEENDDQEE | EEEDEDDEDD |
| 610 | 620 | 630 | 640 | 650 | 660 |
| EEEDRMEVGP | FSTGQESPTA | ENARLLAQKR | GALQGSAWQV | SSEDVRWDTF | PLGRMPGQTE |
| 670 | 680 | 690 | 700 | 710 | 720 |
| DPAELMLENY | DTMYLLDQPV | LEQRLEPSTC | KTDTLGLSCG | VGSGNCSNSS | SSNFEGLLWS |
| 730 | |||||
| QGQLHGLKTG | LQLF |