Q9Y5B9
Gene name |
SUPT16H (FACT140, FACTP140) |
Protein name |
FACT complex subunit SPT16 |
Names |
Chromatin-specific transcription elongation factor 140 kDa subunit, FACT 140 kDa subunit, FACTp140, Facilitates chromatin transcription complex subunit SPT16, hSPT16 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:11198 |
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
10 structures for Q9Y5B9
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 4Z2M | X-ray | 298 A | B | 644-930 | PDB |
| 4Z2N | X-ray | 192 A | A | 644-930 | PDB |
| 5E5B | X-ray | 184 A | A | 2-432 | PDB |
| 5UMT | X-ray | 209 A | A | 1-434 | PDB |
| 5UMU | X-ray | 190 A | A/B | 649-926 | PDB |
| 5XM2 | X-ray | 219 A | A/B | 1-437 | PDB |
| 6UPK | EM | 490 A | G | 2-925 | PDB |
| 6UPL | EM | 740 A | G | 2-925 | PDB |
| 8I17 | X-ray | 198 A | C/F/I | 926-965 | PDB |
| AF-Q9Y5B9-F1 | Predicted | AlphaFoldDB |
433 variants for Q9Y5B9
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
| VAR_086185 | 162 | I>V | NEDDFAC; unknown pathological significance [UniProt] | Yes | UniProt |
| VAR_086186 | 432 | L>P | NEDDFAC; unknown pathological significance [UniProt] | Yes | UniProt |
| VAR_086187 | 571 | N>S | NEDDFAC; unknown pathological significance [UniProt] | Yes | UniProt |
| VAR_086188 | 734 | R>W | NEDDFAC; unknown pathological significance [UniProt] | Yes | UniProt |
|
rs771404867 CA7090495 |
2 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA388873849 rs771404867 |
2 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1355366612 CA388873806 |
5 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
CA388873784 rs1173028066 |
6 | D>E | No |
ClinGen gnomAD |
|
|
CA388873770 rs1432988431 |
7 | K>I | No |
ClinGen gnomAD |
|
|
rs1594315861 CA388873704 |
14 | V>G | No |
ClinGen Ensembl |
|
|
rs1396782293 CA388873709 |
14 | V>M | No |
ClinGen gnomAD |
|
|
CA388873703 rs1174261451 |
15 | K>Q | No |
ClinGen gnomAD |
|
|
CA7090491 rs148988336 |
19 | S>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs772638192 CA7090490 |
20 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA257582338 rs757130398 |
22 | R>W | No |
ClinGen Ensembl |
|
|
rs1415988028 CA388873009 |
23 | K>N | No |
ClinGen gnomAD |
|
|
CA388873004 rs1425573358 |
24 | G>A | No |
ClinGen TOPMed |
|
|
rs1183653965 CA388872989 |
26 | D>V | No |
ClinGen gnomAD |
|
|
CA257572702 rs1021439676 |
28 | Y>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1566392884 CA388872967 |
29 | A>G | No |
ClinGen Ensembl |
|
|
CA388872960 rs1268483121 |
30 | N>I | No |
ClinGen gnomAD |
|
|
CA388872963 rs1448676222 |
30 | N>Y | No |
ClinGen gnomAD |
|
|
rs201996123 COSM1368971 CA7090420 |
31 | V>I | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 33 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA257572685 rs1002792311 |
36 | V>A | No |
ClinGen Ensembl |
|
|
CA388872925 rs1228388314 |
36 | V>I | No |
ClinGen gnomAD |
|
|
CA388872908 rs1267907992 |
39 | G>S | No |
ClinGen gnomAD |
|
|
CA388872901 rs1429151466 |
40 | V>L | No |
ClinGen gnomAD |
|
|
CA388872892 rs1368016564 |
41 | D>G | No |
ClinGen gnomAD |
|
|
CA388872880 rs1408212063 |
43 | E>K | No |
ClinGen TOPMed |
|
|
CA388872790 rs1437320146 |
54 | T>S | No |
ClinGen TOPMed |
|
|
rs1413068820 CA388872782 |
55 | W>S | No |
ClinGen gnomAD |
|
|
rs751843434 CA7090392 |
57 | F>C | No |
ClinGen ExAC gnomAD |
|
|
rs1361421511 CA388872732 |
62 | T>I | No |
ClinGen TOPMed |
|
|
CA388872720 rs1452777108 |
64 | T>N | No |
ClinGen gnomAD |
|
|
CA7090390 rs762651134 |
65 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1566391791 CA388872710 |
66 | M>V | No |
ClinGen Ensembl |
|
|
rs1052417413 CA257571773 |
69 | C>Y | No |
ClinGen TOPMed |
|
|
CA7090387 rs761769909 |
74 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs141099957 CA7090388 |
74 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA257571745 rs1033244422 |
75 | F>S | No |
ClinGen Ensembl |
|
| TCGA novel | 76 | M>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA257571743 rs866020920 |
78 | S>R | No |
ClinGen Ensembl |
|
|
CA388872591 rs1209319438 |
82 | V>L | No |
ClinGen TOPMed |
|
|
CA388872525 rs1332902149 |
91 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
CA257571714 rs1043811060 |
91 | T>S | No |
ClinGen TOPMed |
|
| TCGA novel | 92 | K>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1183178234 CA388872503 |
94 | N>S | No |
ClinGen TOPMed |
|
| TCGA novel | 95 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1594307532 CA388872455 |
101 | P>S | No |
ClinGen Ensembl |
|
|
rs374390465 CA7090384 |
102 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7090383 rs775004031 |
102 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA7090381 rs749596910 |
107 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 108 | R>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA388872416 rs1459266554 |
108 | R>Q | No |
ClinGen TOPMed |
|
|
rs774344417 CA388871847 |
111 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774344417 CA7090354 |
111 | N>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs186052263 CA7090352 |
113 | S>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs780214689 CA7090351 |
113 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 117 | S>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1388855903 CA388871778 |
120 | K>R | No |
ClinGen gnomAD |
|
|
rs746117621 CA7090349 |
121 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs1450658265 CA388871770 |
121 | M>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs533962767 CA257570401 |
121 | M>V | No |
ClinGen gnomAD |
|
|
CA7090347 rs757044451 |
124 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA388871736 rs1268381692 |
126 | K>R | No |
ClinGen gnomAD |
|
|
rs1195296128 CA388871719 |
128 | S>N | No |
ClinGen gnomAD |
|
|
CA257570382 rs904516441 |
129 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
CA257570374 rs868462703 |
132 | K>E | No |
ClinGen Ensembl |
|
|
rs1276879508 CA388871684 |
133 | K>R | No |
ClinGen gnomAD |
|
|
CA257570330 rs1044454188 |
138 | S>G | No |
ClinGen gnomAD |
|
|
COSM4136241 CA388871651 rs1044454188 |
138 | S>R | pancreas [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA257570321 rs1012987475 |
139 | K>R | No |
ClinGen Ensembl |
|
|
CA7090344 rs756121962 |
142 | F>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1305937666 CA388871568 |
149 | S>C | No |
ClinGen gnomAD |
|
|
CA388871570 rs1305937666 |
149 | S>R | No |
ClinGen gnomAD |
|
|
rs1235671196 CA388871563 |
149 | S>R | No |
ClinGen TOPMed |
|
| TCGA novel | 150 | W>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1057228105 CA257570292 |
153 | C>Y | No |
ClinGen TOPMed |
|
|
CA388871528 rs1407442585 |
154 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1407442585 CA388871529 |
154 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA257570287 rs940159670 |
155 | N>D | No |
ClinGen Ensembl |
|
|
CA7090343 rs377180638 |
156 | K>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA388871441 rs1239138721 |
164 | I>T | No |
ClinGen gnomAD |
|
| TCGA novel | 165 | S>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs762735296 CA7090321 |
167 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs766106280 CA7090322 |
167 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766106280 CA388871424 |
167 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1235655027 CA388871397 |
171 | T>I | No |
ClinGen gnomAD |
|
|
CA388871387 rs764567155 |
173 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764567155 CA7090319 |
173 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7090318 rs761022577 |
176 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs201067558 CA257569750 |
177 | D>G | No |
ClinGen 1000Genomes |
|
| TCGA novel | 178 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7090316 rs376183523 |
180 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7090315 rs376183523 |
180 | L>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA257569710 rs866587435 |
181 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs866587435 CA388871333 |
181 | N>T | No |
ClinGen TOPMed gnomAD |
|
|
rs771105762 CA7090312 |
183 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA7090313 rs373052146 |
183 | M>V | No |
ClinGen ESP ExAC gnomAD |
|
|
rs749530193 CA7090311 |
186 | A>G | No |
ClinGen ExAC |
|
|
CA257569686 rs992076600 |
188 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
rs777482561 CA7090310 |
190 | T>A | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 193 | V>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs781173989 CA7090307 |
195 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA388871082 rs1263208665 |
202 | V>L | No |
ClinGen TOPMed |
|
|
rs1486628749 CA388871074 |
203 | M>V | No |
ClinGen TOPMed |
|
|
CA7090303 rs758066968 |
208 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA388870988 rs1473057609 |
208 | A>V | No |
ClinGen gnomAD |
|
| TCGA novel | 209 | D>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 210 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1201352548 CA388870430 |
211 | K>E | No |
ClinGen gnomAD |
|
|
CA388870415 rs1477550186 |
213 | R>Q | No |
ClinGen TOPMed |
|
|
CA388870401 rs1449585974 |
215 | S>N | No |
ClinGen gnomAD |
|
|
rs745430204 CA388870396 |
216 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA7090283 rs745430204 |
216 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
CA388870394 rs1189214449 |
216 | K>T | No |
ClinGen TOPMed |
|
|
rs1344978423 CA388870333 |
225 | I>T | No |
ClinGen gnomAD |
|
|
rs148675721 CA7090282 |
225 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1219064278 CA388870322 |
227 | E>K | No |
ClinGen gnomAD |
|
|
CA7090281 rs756902968 |
228 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs1276900909 CA388870246 |
238 | T>A | No |
ClinGen gnomAD |
|
|
rs1265664724 CA388870182 |
247 | I>V | No |
ClinGen gnomAD |
|
|
CA388870165 rs1369953425 |
249 | S>N | No |
ClinGen gnomAD |
|
|
CA388870141 rs1306290670 |
252 | N>K | No |
ClinGen gnomAD |
|
|
rs753068656 CA7090280 |
253 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs767798718 CA7090279 |
254 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 256 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1228377964 CA388870116 |
256 | K>R | No |
ClinGen gnomAD |
|
|
CA7090278 rs755415943 |
259 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA388870045 rs1482579002 |
264 | N>S | No |
ClinGen gnomAD |
|
|
CA388870038 rs1181332226 |
265 | H>R | No |
ClinGen TOPMed |
|
|
CA388870039 rs1483888873 |
265 | H>Y | No |
ClinGen TOPMed |
|
|
rs201324303 CA257568191 |
266 | M>I | No |
ClinGen TOPMed |
|
|
CA388870032 rs4402461 CA257568203 |
266 | M>L | No |
ClinGen Ensembl |
|
|
rs749985907 CA257568199 |
266 | M>T | No |
ClinGen gnomAD |
|
|
CA388870021 rs1441776635 |
267 | H>Q | No |
ClinGen TOPMed |
|
|
rs1179506704 CA388870002 |
270 | A>G | No |
ClinGen TOPMed |
|
|
rs201776136 CA257568159 |
270 | A>T | No |
ClinGen 1000Genomes |
|
|
CA388870000 rs934106728 |
271 | I>L | No |
ClinGen TOPMed gnomAD |
|
|
CA257568151 rs934106728 |
271 | I>V | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 273 | C>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7090259 rs780519589 |
277 | I>V | No |
ClinGen ExAC gnomAD |
|
|
RCV001291800 rs1470319697 |
278 | R>C | No |
ClinVar dbSNP |
|
|
CA388869948 rs1328707311 |
278 | R>H | No |
ClinGen gnomAD |
|
|
CA388869953 rs1470319697 |
278 | R>S | No |
ClinGen gnomAD |
|
|
rs758945136 CA7090258 |
284 | S>A | No |
ClinGen ExAC gnomAD |
|
|
CA388869906 rs1417102510 |
284 | S>C | No |
ClinGen TOPMed |
|
|
CA257568119 rs978695498 |
288 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1381280819 CA388869865 |
291 | M>V | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 296 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 299 | Q>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1385996390 CA388869787 |
301 | N>K | No |
ClinGen gnomAD |
|
|
CA7090255 rs762027957 |
301 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs1034583243 CA257568091 |
302 | Y>D | No |
ClinGen TOPMed |
|
| TCGA novel | 303 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM1514907 CA7090254 rs754001146 |
303 | N>T | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs1457457175 CA388869772 |
304 | F>I | No |
ClinGen gnomAD |
|
|
CA388869719 rs1162114539 |
311 | E>* | No |
ClinGen gnomAD |
|
|
CA388869716 rs1422556670 |
311 | E>V | No |
ClinGen gnomAD |
|
|
rs200742721 CA257568072 |
313 | L>P | No |
ClinGen 1000Genomes |
|
|
rs1276482358 CA388869124 |
322 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1025018963 CA257567044 |
323 | C>R | No |
ClinGen gnomAD |
|
|
rs1388164662 CA388869090 |
325 | V>G | No |
ClinGen gnomAD |
|
|
CA7090222 rs201123027 |
325 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201123027 CA7090223 |
325 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769398370 CA7090221 |
326 | Y>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1329124047 CA388869076 |
327 | N>D | No |
ClinGen TOPMed |
|
|
rs780339751 CA388869061 |
328 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs780339751 CA7090219 |
328 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs772318526 CA7090218 |
329 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA388869035 CA7090217 rs746301647 |
330 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs1217972261 CA388869042 |
330 | M>L | No |
ClinGen gnomAD |
|
|
rs1377274032 CA388869027 |
331 | D>G | No |
ClinGen gnomAD |
|
|
CA388869031 rs1462877487 |
331 | D>N | No |
ClinGen gnomAD |
|
|
rs200651162 CA257567001 |
332 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
rs773336274 CA257566992 |
333 | V>I | No |
ClinGen Ensembl |
|
|
rs201435159 CA257566986 |
334 | K>R | No |
ClinGen 1000Genomes |
|
|
CA7090215 rs757820802 |
335 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1181610185 CA388868966 |
336 | Q>H | No |
ClinGen gnomAD |
|
|
CA257566976 rs199598876 |
337 | K>R | No |
ClinGen 1000Genomes |
|
|
rs778018603 CA7090213 |
338 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA388868949 rs1265148576 |
338 | P>T | No |
ClinGen TOPMed |
|
|
rs149497176 CA7090211 |
346 | K>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA388868295 rs1218797405 |
352 | M>V | No |
ClinGen TOPMed |
|
|
CA388868268 rs1330537200 |
354 | I>V | No |
ClinGen gnomAD |
|
|
rs1269610740 CA388868185 |
360 | S>T | No |
ClinGen TOPMed |
|
|
CA7090200 rs575783306 |
362 | V>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs139418140 CA7090198 |
363 | I>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA257565927 rs888333552 |
364 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
CA388868077 rs1320057477 |
367 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
CA388868079 rs1320057477 |
367 | N>T | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 368 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA388868034 rs1407091454 |
370 | K>E | No |
ClinGen gnomAD |
|
|
rs749733101 CA7090178 |
375 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs773845920 CA7090177 |
379 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs373401934 CA7090175 |
380 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs373401934 CA7090176 |
380 | N>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1197532273 CA388867825 |
381 | L>V | No |
ClinGen gnomAD |
|
| TCGA novel | 383 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs781366991 CA7090174 |
385 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs1472797773 CA388867724 |
388 | N>I | No |
ClinGen TOPMed |
|
|
rs1555309667 CA388867714 |
389 | K>* | No |
ClinGen Ensembl |
|
|
TCGA novel rs1555309667 CA388867717 |
389 | K>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA Ensembl |
|
rs747270908 CA7090169 |
391 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs779648070 CA7090168 |
392 | K>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA388867659 rs1375960239 |
392 | K>N | No |
ClinGen Ensembl |
|
|
CA388867644 rs1271051222 |
393 | K>N | No |
ClinGen gnomAD |
|
|
rs1329349317 CA388867600 |
396 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
CA388867606 rs1436047803 |
396 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1386782784 CA388867598 |
397 | K>Q | No |
ClinGen TOPMed |
|
|
rs750267986 CA7090166 |
402 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1358436626 CA388867492 |
404 | G>V | No |
ClinGen TOPMed |
|
|
rs369263621 CA257565642 |
407 | V>M | No |
ClinGen ESP TOPMed |
|
|
rs948357750 CA257565616 |
409 | V>L | No |
ClinGen Ensembl |
|
|
CA388867412 rs1419974764 |
410 | D>G | No |
ClinGen gnomAD |
|
|
CA388867260 rs1209919756 |
412 | D>G | No |
ClinGen gnomAD |
|
|
CA257564628 rs947399622 |
414 | P>L | No |
ClinGen gnomAD |
|
|
rs61739513 CA7090139 |
415 | A>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1224364897 CA388867229 |
415 | A>P | No |
ClinGen gnomAD |
|
|
rs765711186 CA7090138 |
418 | L>V | No |
ClinGen ExAC |
|
|
CA388867172 rs1374030903 |
420 | S>P | No |
ClinGen gnomAD |
|
|
rs374015871 CA7090136 |
423 | K>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs769101274 CA7090135 |
424 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1407827671 CA388867104 |
425 | V>L | No |
ClinGen gnomAD |
|
|
rs775462571 CA7090133 |
428 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA388866782 rs1482315974 |
434 | N>S | No |
ClinGen gnomAD |
|
|
CA7090108 rs749082552 |
438 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs373644416 CA7090107 |
440 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7090106 rs373644416 |
440 | E>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs899497065 CA257564474 |
442 | E>G | No |
ClinGen gnomAD |
|
|
rs1348506398 CA388866712 |
443 | E>V | No |
ClinGen TOPMed |
|
|
rs780784005 CA7090103 |
444 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA7090102 rs754533043 |
448 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA388866654 rs1566385993 |
451 | L>F | No |
ClinGen Ensembl |
|
|
CA388866645 rs1249411947 |
453 | R>G | No |
ClinGen TOPMed |
|
| TCGA novel | 453 | R>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA388866639 rs1361895907 |
454 | G>S | No |
ClinGen gnomAD |
|
|
CA7090100 rs779831190 |
456 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1368047680 CA388866626 |
456 | R>W | No |
ClinGen gnomAD |
|
|
CA388866616 rs1371715129 |
458 | A>T | No |
ClinGen gnomAD |
|
|
rs199842481 CA257564463 |
462 | E>G | No |
ClinGen 1000Genomes |
|
|
COSM1300482 CA7090075 rs756418970 |
474 | R>Q | Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
| TCGA novel | 475 | R>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7090074 rs753105637 |
476 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA388866456 rs1309567695 |
479 | K>R | No |
ClinGen gnomAD |
|
|
CA257564288 rs868595377 |
482 | A>G | No |
ClinGen gnomAD |
|
|
COSM1228016 rs868595377 CA388866435 |
482 | A>V | large_intestine [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA388866434 rs1334902610 |
483 | A>T | No |
ClinGen gnomAD |
|
|
rs1307205423 CA388866410 |
486 | N>S | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 487 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 487 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs766384670 CA7090070 |
488 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA388866354 rs1158581147 |
494 | T>S | No |
ClinGen gnomAD |
|
|
rs201675046 CA7090068 |
496 | Q>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7090067 rs201675046 |
496 | Q>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA388866315 rs1365529627 |
500 | Q>E | No |
ClinGen gnomAD |
|
|
rs1383099672 CA388866257 |
506 | R>C | No |
ClinGen gnomAD |
|
|
CA388866255 COSM3690012 rs1185247895 |
506 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs939891893 CA257564198 |
510 | V>M | No |
ClinGen TOPMed |
|
|
rs1190384424 CA388866143 |
522 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1213472003 CA388866140 |
523 | H>Y | No |
ClinGen TOPMed |
|
|
CA7090045 rs753627159 |
525 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7090046 rs776919364 |
525 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs763986189 CA7090044 |
527 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA257564116 rs974334937 |
532 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs1490923939 CA388865831 |
540 | M>I | No |
ClinGen gnomAD |
|
|
CA7090039 rs773940603 COSM1368968 |
542 | V>M | large_intestine Variant assessed as Somatic; 4.682e-05 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs748955388 CA7090038 |
545 | I>S | No |
ClinGen ExAC gnomAD |
|
|
CA7090037 rs748955388 |
545 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs964676596 CA257564075 |
547 | T>A | No |
ClinGen TOPMed |
|
|
rs769008038 CA7090035 |
547 | T>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 548 | P>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 549 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs758986272 CA7090032 |
554 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1011043946 CA257563481 |
557 | I>V | No |
ClinGen TOPMed |
|
|
CA7090008 rs756434202 |
558 | S>C | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 558 | S>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 561 | V>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 562 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 569 | R>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7090001 rs749975441 |
579 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA257563432 rs538206878 |
584 | G>S | No |
ClinGen Ensembl |
|
|
rs764831935 CA7090000 |
586 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs761551385 CA7089999 |
588 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs147751566 CA7089998 |
590 | P>S | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1239184644 COSM954405 CA388864983 |
592 | A>V | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA388864273 rs1172616437 |
607 | A>P | No |
ClinGen gnomAD |
|
|
rs1478150435 CA388864255 |
608 | P>S | No |
ClinGen gnomAD |
|
|
CA7089956 rs745799925 |
609 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 612 | T>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA257562354 rs866400832 |
615 | A>S | No |
ClinGen Ensembl |
|
|
rs753327668 CA7089953 |
615 | A>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 619 | Q>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA388864019 rs1252636532 |
621 | A>V | No |
ClinGen gnomAD |
|
|
CA7089951 rs755741220 |
624 | I>V | No |
ClinGen ExAC |
|
| TCGA novel | 626 | K>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1566384325 | 627 | E>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1232266295 CA388863850 |
631 | R>H | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 632 | Y>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1240960339 CA388863527 |
646 | V>I | No |
ClinGen gnomAD |
|
|
rs762249289 CA7089926 |
654 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA388863436 rs1331871974 |
659 | N>S | No |
ClinGen TOPMed |
|
|
rs928978769 CA388863400 |
664 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
CA388863393 rs1302830215 |
666 | Y>H | No |
ClinGen TOPMed |
|
|
CA257562122 rs1037870133 |
673 | Q>K | No |
ClinGen Ensembl |
|
|
rs1241398603 CA388863316 |
676 | M>I | No |
ClinGen gnomAD |
|
|
CA257562121 rs941860562 |
676 | M>L | No |
ClinGen Ensembl |
|
|
CA388863223 rs1478476745 |
688 | R>H | No |
ClinGen gnomAD |
|
|
CA388863208 rs1194985643 |
690 | T>I | No |
ClinGen gnomAD |
|
| TCGA novel | 696 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA257561700 rs77133783 |
700 | L>F | No |
ClinGen Ensembl |
|
| TCGA novel | 702 | N>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7089899 rs147874876 |
708 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA257561672 rs941813882 |
716 | M>I | No |
ClinGen Ensembl |
|
| TCGA novel | 718 | I>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA388863006 rs1202651310 |
719 | V>F | No |
ClinGen gnomAD |
|
|
rs1219751593 CA388862775 |
732 | K>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs776215631 CA7089875 |
744 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs1449749820 CA388862626 |
745 | G>R | No |
ClinGen gnomAD |
|
| TCGA novel | 746 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA388862607 rs1353930026 |
747 | I>R | No |
ClinGen TOPMed |
|
|
CA7089873 rs555039355 |
749 | T>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs935976589 CA257560898 |
758 | H>R | No |
ClinGen TOPMed |
|
| TCGA novel | 759 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA257560891 rs926070813 |
760 | R>* | No |
ClinGen TOPMed |
|
| TCGA novel | 762 | D>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 765 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7089856 rs760062405 |
770 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA257560202 rs79499533 |
774 | H>Q | No |
ClinGen Ensembl |
|
|
CA388861941 rs1416028307 |
782 | N>S | No |
ClinGen gnomAD |
|
|
rs775087323 CA7089855 |
784 | I>L | No |
ClinGen ExAC gnomAD |
|
|
CA388861905 rs1260859611 |
787 | V>A | No |
ClinGen gnomAD |
|
|
rs771566204 CA7089854 |
787 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs1289950095 CA388861892 |
789 | A>S | No |
ClinGen TOPMed |
|
|
rs774055437 CA7089852 |
790 | L>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 791 | T>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1361932846 CA388861853 |
795 | L>V | No |
ClinGen TOPMed |
|
|
rs1242121033 CA388861819 |
800 | P>T | No |
ClinGen gnomAD |
|
|
rs1432956262 CA388861803 |
802 | R>K | No |
ClinGen TOPMed |
|
|
CA257560074 rs867431583 |
808 | G>R | No |
ClinGen Ensembl |
|
|
CA388861619 rs1385390051 |
811 | Y>C | No |
ClinGen gnomAD |
|
| TCGA novel | 813 | S>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 817 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7089831 rs770612956 |
820 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs1331884064 CA388861472 |
822 | S>G | No |
ClinGen gnomAD |
|
|
rs762127740 CA7089830 |
823 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA257560044 rs974718874 |
830 | W>* | No |
ClinGen Ensembl |
|
| TCGA novel | 832 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7089797 rs777914683 |
838 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs764942806 CA257559712 |
843 | I>V | No |
ClinGen Ensembl |
|
|
CA7089791 rs369898452 |
860 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA257559675 rs967954743 |
866 | K>R | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 869 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA257559670 rs77117349 |
870 | M>I | No |
ClinGen Ensembl |
|
|
rs1594298006 CA388861068 |
870 | M>V | No |
ClinGen Ensembl |
|
|
CA257559666 rs534521870 |
872 | N>S | No |
ClinGen 1000Genomes |
|
|
CA388861046 rs764849621 |
873 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764849621 CA7089787 |
873 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1424730344 CA388861041 |
874 | I>V | No |
ClinGen TOPMed |
|
|
CA388861027 rs1594297982 |
876 | V>L | No |
ClinGen Ensembl |
|
|
rs1257394167 CA388860991 |
882 | I>V | No |
ClinGen gnomAD |
|
|
rs1300504299 CA388860419 |
890 | D>N | No |
ClinGen TOPMed |
|
|
rs200551095 CA257555778 |
901 | N>S | No |
ClinGen 1000Genomes |
|
|
rs370518325 CA257555768 |
903 | T>A | No |
ClinGen ESP TOPMed |
|
|
CA388860200 rs1305896840 |
909 | I>V | No |
ClinGen TOPMed |
|
|
rs201031732 CA257555763 |
911 | D>G | No |
ClinGen 1000Genomes |
|
|
rs945446737 CA257555760 |
915 | G>A | No |
ClinGen Ensembl |
|
| TCGA novel | 915 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs767031188 CA7089762 |
918 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1435405382 CA388860092 |
918 | E>V | No |
ClinGen gnomAD |
|
|
CA257555692 rs199875206 |
926 | E>G | No |
ClinGen 1000Genomes |
|
|
CA7089760 rs773189447 COSM3793562 |
928 | E>K | urinary_tract Variant assessed as Somatic; 4.621e-05 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs569192537 CA7089737 |
937 | G>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA388859837 rs1379848579 |
939 | S>L | No |
ClinGen gnomAD |
|
|
CA388859826 rs1459105444 |
941 | S>A | No |
ClinGen gnomAD |
|
|
rs1233550969 CA388859810 |
943 | I>T | No |
ClinGen gnomAD |
|
|
CA7089735 rs750452954 |
946 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs765228041 CA7089734 |
953 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs762011472 CA7089733 |
955 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA388859711 rs1376732204 |
957 | E>Q | No |
ClinGen gnomAD |
|
|
CA7089730 rs760424796 |
960 | E>K | No |
ClinGen ExAC gnomAD |
|
| rs773988222 | 960 | E>missing | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7089725 rs143874908 |
970 | A>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7089724 rs143874908 |
970 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA257555274 rs937342683 |
972 | E>G | No |
ClinGen TOPMed |
|
|
CA388859601 rs1435667815 |
972 | E>Q | No |
ClinGen gnomAD |
|
|
CA7089699 rs758668522 |
975 | Y>C | No |
ClinGen ExAC |
|
|
CA257555150 rs149446959 |
977 | K>N | No |
ClinGen ESP |
|
|
CA7089698 rs560749506 |
979 | S>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs757786394 CA7089696 |
980 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs753859968 CA7089695 |
982 | S>N | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 986 | S>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs759202482 CA257555113 |
987 | G>R | No |
ClinGen Ensembl |
|
| TCGA novel | 994 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs752836768 CA7089692 |
998 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA388859191 rs1373550950 |
1000 | A>G | No |
ClinGen gnomAD |
|
|
rs756151775 CA7089671 |
1002 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1398232340 CA388859171 |
1002 | R>Q | No |
ClinGen gnomAD |
|
|
CA7089669 rs767585887 |
1004 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs755239634 CA7089668 |
1005 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs1189468427 CA388859116 COSM954399 |
1007 | E>K | large_intestine Variant assessed as Somatic; impact. endometrium [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
rs766274563 CA7089666 |
1011 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762901559 CA7089664 |
1014 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA388859018 rs1239510187 |
1014 | R>Q | No |
ClinGen gnomAD |
|
|
rs773261513 CA7089663 |
1015 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773261513 CA388859016 |
1015 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1481279879 CA388859007 |
1015 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
CA7089661 rs761192331 |
1018 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7089662 rs562835058 |
1018 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1304382530 CA388858940 |
1021 | K>E | No |
ClinGen gnomAD |
|
|
rs775059544 CA7089657 |
1023 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs1401488251 CA388858892 |
1025 | H>Q | No |
ClinGen gnomAD |
|
|
CA7089656 rs373781982 |
1026 | S>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs749689647 CA7089655 |
1027 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs756636080 COSM1368962 CA7089653 |
1029 | R>C | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA7089652 rs748118048 |
1029 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA388858831 rs1381614412 |
1031 | S>F | No |
ClinGen gnomAD |
|
|
CA7089651 rs781334536 |
1033 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA7089650 rs150316403 |
1033 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA7089649 rs751795382 |
1034 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1256005421 CA388858792 |
1035 | S>C | No |
ClinGen gnomAD |
|
|
rs780473200 CA388858785 |
1036 | R>K | No |
ClinGen ExAC gnomAD |
|
|
rs780473200 CA7089648 |
1036 | R>T | No |
ClinGen ExAC gnomAD |
|
|
CA7089646 rs750278650 |
1037 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
CA7089644 rs200675076 |
1042 | P>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA388858712 rs1239770576 |
1042 | P>L | No |
ClinGen gnomAD |
|
|
CA388858713 rs1239770576 |
1042 | P>R | No |
ClinGen gnomAD |
|
|
CA388858717 rs200675076 |
1042 | P>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7089643 rs200675076 |
1042 | P>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 1043 | K>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 1043 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA257554511 rs200233088 |
1045 | K>R | No |
ClinGen TOPMed gnomAD |
1 associated diseases with Q9Y5B9
[MIM: 619480]: Neurodevelopmental disorder with dysmorphic facies and thin corpus callosum (NEDDFAC)
An autosomal dominant disorder characterized by global developmental delay, impaired intellectual development with poor or absent speech and language, and autistic-like behaviors. Corpus callosum anomalies are visible on brain imaging. Most patients have dysmorphic features including tall forehead, down-slanting palpebral fissures, ear anomalies and broad nasal bridge. Other variably present clinical features include seizures, sleeping difficulties and precocious puberty. {ECO:0000269|PubMed:31924697}. Note=The disease may be caused by variants affecting the gene represented in this entry.
Without disease ID
- An autosomal dominant disorder characterized by global developmental delay, impaired intellectual development with poor or absent speech and language, and autistic-like behaviors. Corpus callosum anomalies are visible on brain imaging. Most patients have dysmorphic features including tall forehead, down-slanting palpebral fissures, ear anomalies and broad nasal bridge. Other variably present clinical features include seizures, sleeping difficulties and precocious puberty. {ECO:0000269|PubMed:31924697}. Note=The disease may be caused by variants affecting the gene represented in this entry.
5 regional properties for Q9Y5B9
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Peptidase M24 | 182 - 411 | IPR000994 |
| domain | Histone chaperone RTT106/FACT complex subunit SPT16-like, middle domain | 806 - 896 | IPR013719 |
| domain | FACT complex subunit Spt16 domain | 529 - 689 | IPR013953 |
| domain | FACT complex subunit Spt16, N-terminal lobe domain | 5 - 168 | IPR029148 |
| domain | FACT complex subunit Spt16, peptidase M24-like domain | 180 - 420 | IPR033825 |
3 GO annotations of cellular component
| Name | Definition |
|---|---|
| FACT complex | A histone chaperone complex that facilitates nucleosome disassembly and reassembly upon DNA or RNA polymerase passage. |
| 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. |
2 GO annotations of molecular function
| Name | Definition |
|---|---|
| nucleosome binding | Binding to a nucleosome, a complex comprised of DNA wound around a multisubunit core and associated proteins, which forms the primary packing unit of DNA into higher order structures. |
| RNA binding | Binding to an RNA molecule or a portion thereof. |
8 GO annotations of biological process
| Name | Definition |
|---|---|
| DNA repair | The process of restoring DNA after damage. Genomes are subject to damage by chemical and physical agents in the environment (e.g. UV and ionizing radiations, chemical mutagens, fungal and bacterial toxins, etc.) and by free radicals or alkylating agents endogenously generated in metabolism. DNA is also damaged because of errors during its replication. A variety of different DNA repair pathways have been reported that include direct reversal, base excision repair, nucleotide excision repair, photoreactivation, bypass, double-strand break repair pathway, and mismatch repair pathway. |
| DNA replication | The cellular metabolic process in which a cell duplicates one or more molecules of DNA. DNA replication begins when specific sequences, known as origins of replication, are recognized and bound by initiation proteins, and ends when the original DNA molecule has been completely duplicated and the copies topologically separated. The unit of replication usually corresponds to the genome of the cell, an organelle, or a virus. The template for replication can either be an existing DNA molecule or RNA. |
| nucleosome assembly | The aggregation, arrangement and bonding together of a nucleosome, the beadlike structural units of eukaryotic chromatin composed of histones and DNA. |
| nucleosome disassembly | The controlled breakdown of nucleosomes, the beadlike structural units of eukaryotic chromatin composed of histones and DNA. |
| positive regulation of DNA-templated transcription, elongation | Any process that activates or increases the frequency, rate or extent of transcription elongation, the extension of an RNA molecule after transcription initiation and promoter clearance by the addition of ribonucleotides catalyzed by a DNA-dependent RNA polymerase. |
| positive regulation of transcription elongation by RNA polymerase II | Any process that activates or increases the frequency, rate or extent of transcription elongation, the extension of an RNA molecule after transcription initiation and promoter clearance by the addition of ribonucleotides, catalyzed by RNA polymerase II. |
| transcription by RNA polymerase II | The synthesis of RNA from a DNA template by RNA polymerase II (RNAP II), originating at an RNA polymerase II promoter. Includes transcription of messenger RNA (mRNA) and certain small nuclear RNAs (snRNAs). |
| transcription elongation by RNA polymerase II promoter | The extension of an RNA molecule after transcription initiation and promoter clearance at an RNA polymerase II promoter by the addition of ribonucleotides catalyzed by RNA polymerase II. |
4 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| P32558 | SPT16 | FACT complex subunit SPT16 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast) | PR |
| Q8H6B1 | SPT16 | FACT complex subunit SPT16 | Zea mays (Maize) | PR |
| Q7X923 | SPT16 | FACT complex subunit SPT16 | Oryza sativa subsp japonica (Rice) | PR |
| O82491 | SPT16 | FACT complex subunit SPT16 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MAVTLDKDAY | YRRVKRLYSN | WRKGEDEYAN | VDAIVVSVGV | DEEIVYAKST | ALQTWLFGYE |
| 70 | 80 | 90 | 100 | 110 | 120 |
| LTDTIMVFCD | DKIIFMASKK | KVEFLKQIAN | TKGNENANGA | PAITLLIREK | NESNKSSFDK |
| 130 | 140 | 150 | 160 | 170 | 180 |
| MIEAIKESKN | GKKIGVFSKD | KFPGEFMKSW | NDCLNKEGFD | KIDISAVVAY | TIAVKEDGEL |
| 190 | 200 | 210 | 220 | 230 | 240 |
| NLMKKAASIT | SEVFNKFFKE | RVMEIVDADE | KVRHSKLAES | VEKAIEEKKY | LAGADPSTVE |
| 250 | 260 | 270 | 280 | 290 | 300 |
| MCYPPIIQSG | GNYNLKFSVV | SDKNHMHFGA | ITCAMGIRFK | SYCSNLVRTL | MVDPSQEVQE |
| 310 | 320 | 330 | 340 | 350 | 360 |
| NYNFLLQLQE | ELLKELRHGV | KICDVYNAVM | DVVKKQKPEL | LNKITKNLGF | GMGIEFREGS |
| 370 | 380 | 390 | 400 | 410 | 420 |
| LVINSKNQYK | LKKGMVFSIN | LGFSDLTNKE | GKKPEEKTYA | LFIGDTVLVD | EDGPATVLTS |
| 430 | 440 | 450 | 460 | 470 | 480 |
| VKKKVKNVGI | FLKNEDEEEE | EEEKDEAEDL | LGRGSRAALL | TERTRNEMTA | EEKRRAHQKE |
| 490 | 500 | 510 | 520 | 530 | 540 |
| LAAQLNEEAK | RRLTEQKGEQ | QIQKARKSNV | SYKNPSLMPK | EPHIREMKIY | IDKKYETVIM |
| 550 | 560 | 570 | 580 | 590 | 600 |
| PVFGIATPFH | IATIKNISMS | VEGDYTYLRI | NFYCPGSALG | RNEGNIFPNP | EATFVKEITY |
| 610 | 620 | 630 | 640 | 650 | 660 |
| RASNIKAPGE | QTVPALNLQN | AFRIIKEVQK | RYKTREAEEK | EKEGIVKQDS | LVINLNRSNP |
| 670 | 680 | 690 | 700 | 710 | 720 |
| KLKDLYIRPN | IAQKRMQGSL | EAHVNGFRFT | SVRGDKVDIL | YNNIKHALFQ | PCDGEMIIVL |
| 730 | 740 | 750 | 760 | 770 | 780 |
| HFHLKNAIMF | GKKRHTDVQF | YTEVGEITTD | LGKHQHMHDR | DDLYAEQMER | EMRHKLKTAF |
| 790 | 800 | 810 | 820 | 830 | 840 |
| KNFIEKVEAL | TKEELEFEVP | FRDLGFNGAP | YRSTCLLQPT | SSALVNATEW | PPFVVTLDEV |
| 850 | 860 | 870 | 880 | 890 | 900 |
| ELIHFERVQF | HLKNFDMVIV | YKDYSKKVTM | INAIPVASLD | PIKEWLNSCD | LKYTEGVQSL |
| 910 | 920 | 930 | 940 | 950 | 960 |
| NWTKIMKTIV | DDPEGFFEQG | GWSFLEPEGE | GSDAEEGDSE | SEIEDETFNP | SEDDYEEEEE |
| 970 | 980 | 990 | 1000 | 1010 | 1020 |
| DSDEDYSSEA | EESDYSKESL | GSEEESGKDW | DELEEEARKA | DRESRYEEEE | EQSRSMSRKR |
| 1030 | 1040 | ||||
| KASVHSSGRG | SNRGSRHSSA | PPKKKRK |