Q8N5Y2
PR
Gene name |
MSL3 (MSL3L1) |
Protein name |
Male-specific lethal 3 homolog |
Names |
Male-specific lethal-3 homolog 1, Male-specific lethal-3 protein-like 1, MSL3-like 1 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:10943 |
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 Q8N5Y2
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 2Y0N | X-ray | 300 A | PDB | ||
| 3OA6 | X-ray | 235 A | A/B | 1-101 | PDB |
| 3OB9 | X-ray | 250 A | A/B/C/D/E | 2-93 | PDB |
| AF-Q8N5Y2-F1 | Predicted | AlphaFoldDB |
254 variants for Q8N5Y2
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs2053146273 RCV001266337 |
239 | N>missing | Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
| VAR_082955 | 281 | Q>del | MRXSBA [UniProt] | Yes | UniProt |
|
RCV000851339 RCV000656439 CA412065563 VAR_082956 rs1555906707 |
308 | L>P | Intellectual disability Basilicata-Akhtar syndrome MRXSBA; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs2053172723 RCV002283534 RCV001249324 |
321 | Q>* | Basilicata-Akhtar syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1601769604 RCV001027676 |
324 | E>missing | Global developmental delay [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000656438 rs1555906768 CA412066038 RCV000851338 RCV003128633 |
346 | Q>* | Intellectual disability Basilicata-Akhtar syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
| VAR_082957 | 346 | Q>del | MRXSBA; loss of interaction with MOF and MSL1 [UniProt] | Yes | UniProt |
|
rs1555906781 RCV000656441 |
356 | A>missing | Intellectual disability [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2053175099 RCV001266445 |
381 | M>missing | Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1555907215 RCV000624640 |
403 | P>missing | Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
rs746387441 RCV001254036 |
438 | Y>* | Basilicata-Akhtar syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001249411 rs2053238758 |
454 | Q>missing | MSL3-Related Disorder [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2053238794 RCV001265979 |
454 | Q>* | Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV003128634 CA412066980 RCV000851340 rs1555907620 RCV000656440 |
458 | R>* | Basilicata-Akhtar syndrome Intellectual disability Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
| VAR_082958 | 458 | R>del | MRXSBA [UniProt] | Yes | UniProt |
|
RCV000851337 RCV000656437 rs1555907623 |
459 | L>missing | Basilicata-Akhtar syndrome Intellectual disability [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1555907653 RCV000656443 |
480 | L>missing | Intellectual disability [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000656442 rs1555907864 |
506 | A>missing | Intellectual disability [ClinVar] | Yes |
ClinVar dbSNP |
|
CA412062169 rs150938844 |
2 | S>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
VAR_069061 CA10348690 rs150938844 |
2 | S>T | No |
ClinGen UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA10348691 rs770784848 |
4 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1169513465 CA412062191 |
5 | E>A | No |
ClinGen TOPMed |
|
|
rs1483453197 CA412062186 |
5 | E>K | No |
ClinGen gnomAD |
|
|
CA412062243 rs1489547680 |
12 | H>Y | No |
ClinGen gnomAD |
|
|
rs867120656 CA326720204 |
14 | G>W | No |
ClinGen Ensembl |
|
|
CA412062271 rs1431382307 |
16 | K>T | No |
ClinGen TOPMed |
|
|
CA326720205 rs867930595 |
21 | E>* | No |
ClinGen Ensembl |
|
|
CA412062331 rs1166681935 |
25 | T>A | No |
ClinGen gnomAD |
|
|
rs868096272 CA326720206 |
27 | A>S | No |
ClinGen Ensembl |
|
|
CA412062582 rs1456243380 |
39 | I>T | No |
ClinGen TOPMed |
|
|
rs1388736369 CA412062590 |
40 | V>A | No |
ClinGen TOPMed |
|
|
CA10348726 rs760307919 |
42 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1412422758 CA412062604 |
43 | D>N | No |
ClinGen TOPMed |
|
|
rs763719572 CA10348727 |
50 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 50 | P>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1183953534 CA412062681 |
53 | L>R | No |
ClinGen gnomAD |
|
|
rs753680071 CA10348728 |
57 | N>D | No |
ClinGen ExAC gnomAD |
|
|
rs1255424351 CA412062744 |
62 | S>G | No |
ClinGen TOPMed |
|
|
rs759964488 CA10348743 |
65 | R>T | No |
ClinGen ExAC gnomAD |
|
|
rs1388802712 CA412062809 |
69 | E>A | No |
ClinGen gnomAD |
|
|
CA10348744 rs772627075 |
74 | R>P | No |
ClinGen ExAC gnomAD |
|
|
CA412062861 rs1385362989 |
77 | D>N | No |
ClinGen gnomAD |
|
|
rs376201034 CA326720369 |
78 | E>Q | No |
ClinGen Ensembl |
|
|
CA412062915 rs1325773032 |
84 | R>H | No |
ClinGen gnomAD |
|
|
CA412062932 COSM1625437 rs1326552972 COSM1625436 |
86 | L>F | liver [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
CA10348746 rs760206428 |
89 | K>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763773048 CA10348747 COSM3694291 COSM3694290 COSM3694292 |
93 | R>C | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs753517099 CA10348748 |
93 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1241926157 CA412063002 |
96 | S>N | No |
ClinGen gnomAD |
|
|
rs867279259 CA326720391 |
97 | T>A | No |
ClinGen Ensembl |
|
|
rs147813916 CA10348763 |
98 | G>R | No |
ClinGen ESP ExAC gnomAD |
|
|
CA10348765 rs377114479 |
102 | K>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10348766 rs191141351 |
103 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
COSM1465097 CA10348767 rs768171462 COSM1465096 |
103 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA412063050 rs768171462 |
103 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10348768 rs749597577 |
104 | C>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749597577 CA326720393 |
104 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 105 | R>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA412063076 rs1206286867 |
107 | P>L | No |
ClinGen gnomAD |
|
| TCGA novel | 108 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1297590242 CA412063098 |
111 | S>P | No |
ClinGen TOPMed |
|
|
CA10348769 rs761524573 |
115 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs764860597 CA10348770 |
116 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA412063135 rs1472354867 |
117 | P>A | No |
ClinGen gnomAD |
|
| TCGA novel | 119 | E>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 119 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 119 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 120 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs762777627 CA10348772 |
120 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10348773 rs766049541 |
122 | D>E | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 122 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA412063178 rs1455131872 |
123 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1289396076 CA412063223 |
128 | S>P | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 129 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs376259732 CA326720436 |
130 | S>R | No |
ClinGen ESP |
|
|
rs1180342549 CA412063270 |
133 | S>P | No |
ClinGen gnomAD |
|
|
rs147003474 CA10348785 |
134 | D>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA412063282 rs1279386279 |
135 | C>R | No |
ClinGen TOPMed |
|
|
rs972764717 CA326720437 |
138 | N>K | No |
ClinGen TOPMed |
|
|
rs1376420976 CA412063332 |
141 | E>G | No |
ClinGen gnomAD |
|
|
rs185132508 CA10348786 |
144 | S>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA10348787 rs769478016 |
149 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 152 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10348801 rs369919211 |
160 | E>K | No |
ClinGen ESP ExAC |
|
|
CA412063527 rs1452303965 |
166 | E>G | No |
ClinGen gnomAD |
|
| TCGA novel | 170 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10348803 rs781642101 |
171 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs748614119 CA10348804 |
171 | T>R | No |
ClinGen ExAC gnomAD |
|
|
rs1051590 CA10348805 |
172 | I>V | No |
ClinGen ExAC gnomAD |
|
|
COSM1743817 COSM1743816 CA10348806 rs777091019 |
174 | I>V | biliary_tract [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA10348808 rs770484694 |
182 | K>Q | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 183 | Q>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10348809 rs774259927 |
186 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759382838 CA10348810 |
190 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs373294859 CA10348811 |
191 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA412063838 rs1332910778 |
198 | V>L | No |
ClinGen gnomAD |
|
|
CA326720517 VAR_048732 rs1051595 |
199 | K>Q | No |
ClinGen UniProt Ensembl dbSNP |
|
|
CA326720518 rs878971477 |
203 | Q>H | No |
ClinGen gnomAD |
|
|
CA412063939 rs1341572033 |
206 | I>V | No |
ClinGen TOPMed |
|
|
CA10348823 rs777407101 |
208 | T>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777407101 CA412063974 |
208 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10348824 rs748733058 |
210 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770665155 CA10348825 |
214 | V>M | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 215 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1026681286 CA326720521 |
218 | A>T | No |
ClinGen Ensembl |
|
|
CA412064121 rs1215352819 |
219 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA326720522 rs1051597 |
220 | N>S | No |
ClinGen Ensembl |
|
|
rs745474833 CA10348827 |
221 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs772012561 CA10348828 |
226 | N>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 228 | R>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 228 | R>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1475469568 CA412064264 |
230 | R>C | No |
ClinGen gnomAD |
|
|
CA10348830 rs760763291 |
232 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1165188727 CA412064336 |
234 | V>A | No |
ClinGen gnomAD |
|
|
rs773394755 CA10348832 |
234 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1388411909 CA412064340 |
235 | M>L | No |
ClinGen gnomAD |
|
|
CA412064348 rs1275386357 |
235 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1320875280 CA412064381 |
237 | H>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs762915269 CA10348833 |
237 | H>Y | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 240 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10348834 rs766442822 |
240 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA412064413 rs1461611806 |
240 | M>V | No |
ClinGen TOPMed |
|
|
rs1447400310 CA412064436 |
241 | N>T | No |
ClinGen gnomAD |
|
|
rs1468987586 CA412064461 |
243 | H>R | No |
ClinGen TOPMed |
|
|
rs1214224781 CA412064479 |
244 | Y>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1352655713 CA412064472 |
244 | Y>H | No |
ClinGen gnomAD |
|
|
CA326720523 rs867096989 |
245 | I>T | No |
ClinGen Ensembl |
|
| TCGA novel | 246 | P>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1183184259 CA412064514 |
247 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
| rs1234204951 | 249 | K>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 268 | T>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10348849 rs776469402 |
269 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1045659370 CA326720575 |
270 | P>L | No |
ClinGen Ensembl |
|
| TCGA novel | 272 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10348852 rs141462808 |
272 | V>L | No |
ClinGen ESP ExAC gnomAD |
|
|
rs759823686 CA10348853 |
276 | P>A | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 277 | Y>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA412065108 rs1439770241 |
283 | K>T | No |
ClinGen gnomAD |
|
|
CA10348854 rs767711177 |
285 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760915919 COSM1113710 CA10348856 COSM1113712 |
289 | K>T | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
| TCGA novel | 290 | F>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 292 | L>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 292 | L>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs201234933 CA10348857 |
294 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752528739 CA326720576 |
295 | K>E | No |
ClinGen 1000Genomes |
|
|
rs757722434 CA10348859 |
295 | K>T | No |
ClinGen ExAC gnomAD |
|
|
CA326720577 rs919051113 |
297 | S>N | No |
ClinGen TOPMed |
|
| TCGA novel | 298 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10348861 rs749941803 |
300 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA10348862 rs758177215 |
300 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs142979283 CA10348863 |
301 | T>A | No |
ClinGen ESP ExAC gnomAD |
|
|
rs746637007 CA10348864 |
301 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA412065376 rs1419569859 |
303 | R>K | No |
ClinGen TOPMed |
|
|
CA10348873 rs760898427 |
304 | S>I | No |
ClinGen ExAC TOPMed |
|
|
CA412065514 rs1255449569 |
305 | Q>R | No |
ClinGen gnomAD |
|
|
CA326720704 rs914444855 |
307 | E>K | No |
ClinGen Ensembl |
|
|
CA326720705 COSM1556313 COSM1556312 rs867036187 |
310 | P>S | lung [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
RCV001263419 CA326720707 rs967306073 |
316 | N>T | No |
ClinGen ClinVar Ensembl dbSNP |
|
| TCGA novel | 318 | S>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM1569747 CA412065712 rs1371447661 COSM1569748 |
319 | T>M | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA412065741 rs1390232029 |
321 | Q>H | No |
ClinGen gnomAD |
|
|
CA10348877 rs765819524 |
322 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs374392862 CA10348878 |
327 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs867301536 CA326720710 |
327 | P>S | No |
ClinGen Ensembl |
|
|
CA10348881 rs751184592 |
330 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA326720711 rs989166982 |
330 | G>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA10348882 rs754592866 |
333 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA412065896 rs754592866 |
333 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA10348883 rs780917465 |
334 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA412065957 rs1275511560 COSM456578 COSM456579 |
338 | R>C | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA10348886 rs148614636 |
340 | A>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs927911493 CA326720713 |
345 | L>S | No |
ClinGen TOPMed |
|
|
rs753403769 CA326720714 |
350 | R>W | No |
ClinGen 1000Genomes TOPMed |
|
|
CA10348887 COSM1465106 rs749183286 COSM1465107 |
352 | T>M | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
COSM754466 CA10348889 rs780120545 COSM754465 |
353 | R>C | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs1368126610 CA412066094 |
355 | S>T | No |
ClinGen gnomAD |
|
|
rs768916433 CA10348891 |
358 | C>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200140696 CA10348892 |
360 | R>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA10348893 rs762239535 |
362 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs770246787 CA10348894 |
364 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs1266062549 CA412066157 |
364 | S>R | No |
ClinGen TOPMed |
|
|
CA10348895 rs147804390 |
365 | S>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs147804390 CA10348896 |
365 | S>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs751079550 CA10348898 |
366 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA10348899 rs776536449 |
370 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA412066206 rs1231114955 |
372 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
COSM4004984 rs1277317193 COSM1756350 CA412066211 COSM1756349 |
373 | R>Q | urinary_tract [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
rs1316339918 CA412066210 |
373 | R>W | No |
ClinGen TOPMed |
|
|
CA10348901 rs371263192 |
376 | D>G | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1487101361 CA412066249 |
379 | A>T | Variant assessed as Somatic; 6.264e-05 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs375933028 CA10348903 |
379 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1002328169 CA326720717 |
380 | S>G | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 380 | S>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs753786365 CA10348904 |
383 | K>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 388 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
RCV001008626 rs1601769873 |
390 | K>missing | No |
ClinVar dbSNP |
|
|
CA10348925 rs750289892 |
393 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs928632269 CA326720938 |
394 | V>M | No |
ClinGen Ensembl |
|
|
CA412066571 rs1555907210 RCV000598610 COSM754464 |
398 | S>* | lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ClinVar Ensembl NCI-TCGA dbSNP |
|
CA412066570 rs1236605573 |
398 | S>A | No |
ClinGen gnomAD |
|
|
rs1306959021 CA412066578 |
399 | S>C | No |
ClinGen gnomAD |
|
|
rs748390276 CA10348928 |
402 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1253241950 CA412066601 |
403 | P>L | No |
ClinGen gnomAD |
|
|
rs1481510681 CA412066607 |
404 | L>P | No |
ClinGen gnomAD |
|
|
CA412066613 rs1178945218 |
405 | T>S | No |
ClinGen gnomAD |
|
|
rs1252308553 CA412066616 |
406 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
CA412066627 rs1452564593 |
407 | S>R | No |
ClinGen gnomAD |
|
|
CA412066630 rs1451509909 |
408 | K>E | No |
ClinGen TOPMed |
|
|
rs1425312721 CA412066641 |
409 | E>G | No |
ClinGen gnomAD |
|
|
rs543410155 CA326720939 |
420 | R>G | No |
ClinGen Ensembl |
|
|
rs1462819098 CA412066721 |
421 | R>K | No |
ClinGen gnomAD |
|
|
CA10348929 rs375866878 |
422 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10348950 rs757659444 |
434 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA412066841 rs1332446329 |
436 | D>E | No |
ClinGen gnomAD |
|
|
rs751687015 CA326721273 |
437 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
CA10348955 rs369777019 |
440 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs768515139 | 440 | P>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA326721274 rs369777019 |
440 | P>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
RCV001008152 rs768515139 |
441 | G>missing | No |
ClinVar dbSNP |
|
| TCGA novel | 441 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA412066894 rs1488315269 |
444 | P>L | No |
ClinGen gnomAD |
|
|
rs1356747401 CA412066898 |
445 | P>L | No |
ClinGen TOPMed |
|
|
CA10348959 rs150177262 |
453 | A>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs140880282 CA10348958 |
453 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10348957 rs140880282 COSM3405873 COSM3405872 |
453 | A>T | central_nervous_system [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
| TCGA novel | 460 | F>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1486481281 | 461 | V>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA412067053 rs1266123326 |
467 | L>I | No |
ClinGen TOPMed |
|
| TCGA novel | 473 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 479 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs79235211 CA326721289 |
484 | F>S | No |
ClinGen Ensembl |
|
|
CA412067181 rs747467425 |
485 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768169579 CA10348975 |
485 | D>V | No |
ClinGen ExAC gnomAD |
|
|
rs747467425 CA10348974 |
485 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 486 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 488 | L>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs759485287 CA412067271 |
495 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1300710386 CA412067276 |
496 | D>G | No |
ClinGen gnomAD |
|
|
rs1233452000 CA412067272 |
496 | D>N | No |
ClinGen gnomAD |
|
|
CA412067282 rs1200722153 |
497 | D>N | No |
ClinGen gnomAD |
|
|
rs1209840930 CA412067323 |
502 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1436463184 CA412067343 |
505 | V>A | No |
ClinGen gnomAD |
|
|
CA10348993 rs762153772 |
506 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
| TCGA novel | 508 | C>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs765354814 CA10348994 |
512 | Y>* | No |
ClinGen ExAC |
|
|
rs1454268338 CA412067388 |
512 | Y>C | No |
ClinGen gnomAD |
|
|
rs1276484800 CA412067395 |
513 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1192308531 CA412067427 COSM300783 |
517 | P>L | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA326721459 rs903262672 |
518 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs372729360 CA10348995 |
518 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 519 | A>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10348996 rs758791743 |
519 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs780340217 CA10348997 |
519 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10348998 rs752067112 |
521 | Y>C | No |
ClinGen ExAC gnomAD |
1 associated diseases with Q8N5Y2
[MIM: 301032]: Basilicata-Akhtar syndrome (MRXSBA)
An X-linked syndrome characterized by intellectual disability, global developmental delay, progressive gait disturbance, poor or absent speech, facial dysmorphism, and mild distal skeletal anomalies. {ECO:0000269|PubMed:30224647}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- An X-linked syndrome characterized by intellectual disability, global developmental delay, progressive gait disturbance, poor or absent speech, facial dysmorphism, and mild distal skeletal anomalies. {ECO:0000269|PubMed:30224647}. Note=The disease is caused by variants affecting the gene represented in this entry.
5 GO annotations of cellular component
| Name | Definition |
|---|---|
| histone acetyltransferase complex | A protein complex that possesses histone acetyltransferase activity. |
| MSL complex | A histone acetyltransferase complex that catalyzes the acetylation of a histone H4 lysine residue at position 16. In human, it contains the catalytic subunit MOF, and MSL1, MSL2 and MSL3. |
| NuA4 histone acetyltransferase complex | A complex having histone acetylase activity on chromatin, as well as ATPase, DNA helicase and structural DNA binding activities. The complex is thought to be involved in double-strand DNA break repair. Subunits of the human complex include HTATIP/TIP60, TRRAP, RUVBL1, BUVBL2, beta-actin and BAF53/ACTL6A. In yeast, the complex has 13 subunits, including the catalytic subunit Esa1 (homologous to human Tip60). |
| nucleoplasm | That part of the nuclear content other than the chromosomes or the nucleolus. |
| 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. |
3 GO annotations of molecular function
| Name | Definition |
|---|---|
| DNA binding | Any molecular function by which a gene product interacts selectively and non-covalently with DNA (deoxyribonucleic acid). |
| histone acetyltransferase activity (H4-K16 specific) | Catalysis of the reaction: acetyl-CoA + histone H4 L-lysine (position 16) = CoA + histone H4 N6-acetyl-L-lysine (position 16). This reaction represents the addition of an acetyl group to the lysine at position 16 of histone H4. |
| methylated histone binding | Binding to a histone in which a residue has been modified by methylation. |
9 GO annotations of biological process
| Name | Definition |
|---|---|
| chromatin organization | The assembly or remodeling of chromatin composed of DNA complexed with histones, other associated proteins, and sometimes RNA. |
| histone acetylation | The modification of a histone by the addition of an acetyl group. |
| histone deacetylation | The modification of histones by removal of acetyl groups. |
| histone H2A acetylation | The modification of histone H2A by the addition of an acetyl group. |
| histone H4 acetylation | The modification of histone H4 by the addition of an acetyl group. |
| histone H4-K16 acetylation | The modification of histone H4 by the addition of an acetyl group to a lysine residue at position 16 of the histone. |
| positive regulation of DNA-templated transcription | Any process that activates or increases the frequency, rate or extent of cellular DNA-templated transcription. |
| regulation of DNA-templated transcription | Any process that modulates the frequency, rate or extent of cellular DNA-templated transcription. |
| regulation of dosage compensation by inactivation of X chromosome | Any process that modulates the frequency, rate or extent of dosage compensation, by inactivation of X chromosome. |
No homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| No homologous proteins | ||||
| 10 | 20 | 30 | 40 | 50 | 60 |
| MSASEGMKFK | FHSGEKVLCF | EPDPTKARVL | YDAKIVDVIV | GKDEKGRKIP | EYLIHFNGWN |
| 70 | 80 | 90 | 100 | 110 | 120 |
| RSWDRWAAED | HVLRDTDENR | RLQRKLARKA | VARLRSTGRK | KKRCRLPGVD | SVLKGLPTEE |
| 130 | 140 | 150 | 160 | 170 | 180 |
| KDENDENSLS | SSSDCSENKD | EEISEESDIE | EKTEVKEEPE | LQTRREMEER | TITIEIPEVL |
| 190 | 200 | 210 | 220 | 230 | 240 |
| KKQLEDDCYY | INRRKRLVKL | PCQTNIITIL | ESYVKHFAIN | AAFSANERPR | HHHVMPHANM |
| 250 | 260 | 270 | 280 | 290 | 300 |
| NVHYIPAEKN | VDLCKEMVDG | LRITFDYTLP | LVLLYPYEQA | QYKKVTSSKF | FLPIKESATS |
| 310 | 320 | 330 | 340 | 350 | 360 |
| TNRSQEELSP | SPPLLNPSTP | QSTESQPTTG | EPATPKRRKA | EPEALQSLRR | STRHSANCDR |
| 370 | 380 | 390 | 400 | 410 | 420 |
| LSESSASPQP | KRRQQDTSAS | MPKLFLHLEK | KTPVHSRSSS | PIPLTPSKEG | SAVFAGFEGR |
| 430 | 440 | 450 | 460 | 470 | 480 |
| RTNEINEVLS | WKLVPDNYPP | GDQPPPPSYI | YGAQHLLRLF | VKLPEILGKM | SFSEKNLKAL |
| 490 | 500 | 510 | 520 | ||
| LKHFDLFLRF | LAEYHDDFFP | ESAYVAACEA | HYSTKNPRAI | Y |