Q15742
PR
Gene name |
NAB2 (MADER) |
Protein name |
NGFI-A-binding protein 2 |
Names |
EGR-1-binding protein 2, Melanoma-associated delayed early response protein, Protein MADER |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:4665 |
EC number |
|
Protein Class |
|
Descriptions
The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.
Autoinhibitory domains (AIDs)
Target domain |
|
Relief mechanism |
|
Assay |
cis-regPred |
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
1 structures for Q15742
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q15742-F1 | Predicted | AlphaFoldDB |
340 variants for Q15742
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA6640976 rs757719542 |
2 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs1181990343 CA385407869 |
2 | H>Y | No |
ClinGen gnomAD |
|
|
CA385407876 rs1163558128 |
3 | R>K | No |
ClinGen gnomAD |
|
|
CA6640978 rs750930935 |
4 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs750930935 CA385407881 |
4 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA385407883 rs1169706579 |
4 | A>V | No |
ClinGen TOPMed |
|
|
rs759042415 CA6640979 |
5 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1369926190 CA385407895 |
6 | S>F | No |
ClinGen gnomAD |
|
|
rs889494200 CA237743702 |
6 | S>P | No |
ClinGen Ensembl |
|
|
rs1448652297 CA385407898 |
7 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1448652297 CA385407897 |
7 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1381346167 CA385407907 |
8 | T>I | No |
ClinGen gnomAD |
|
|
rs1314574927 CA385407918 |
10 | E>G | No |
ClinGen gnomAD |
|
|
rs1314574927 CA385407919 |
10 | E>V | No |
ClinGen gnomAD |
|
|
rs749014314 CA6640984 |
12 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1343358442 CA385407932 |
12 | P>S | No |
ClinGen gnomAD |
|
|
CA6640986 rs774196087 |
13 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA6640987 rs745795741 |
14 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA6640989 rs775578240 |
15 | G>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs772013233 CA6640988 |
15 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA385407952 rs1248301061 |
16 | G>E | No |
ClinGen gnomAD |
|
|
rs1180953579 CA385407950 |
16 | G>R | No |
ClinGen gnomAD |
|
|
rs1166545065 CA385407959 |
17 | D>G | No |
ClinGen gnomAD |
|
|
CA385407955 rs983506370 |
17 | D>H | No |
ClinGen TOPMed gnomAD |
|
|
rs983506370 CA237743703 |
17 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs983506370 CA385407956 |
17 | D>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs760703430 CA6640990 |
18 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA6640991 rs764328499 |
20 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA385407979 rs1360992621 |
20 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
rs890037526 CA385407985 |
22 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1366263986 CA385407987 |
22 | T>I | No |
ClinGen gnomAD |
|
|
CA237743704 rs890037526 |
22 | T>P | No |
ClinGen TOPMed gnomAD |
|
|
CA237743705 rs890037526 |
22 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
rs765694548 CA6640994 |
24 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs367685577 CA6640995 |
25 | P>H | No |
ClinGen ESP ExAC gnomAD |
|
|
CA385408002 rs1365699952 |
25 | P>S | No |
ClinGen TOPMed |
|
|
rs1220334413 CA385408010 |
26 | R>T | No |
ClinGen gnomAD |
|
|
rs756839873 CA6641020 |
32 | R>* | No |
ClinGen ExAC gnomAD |
|
|
CA385409544 rs756839873 |
32 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs778572735 CA237743951 |
32 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6641021 rs778572735 COSM1493018 |
32 | R>Q | kidney [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs758106520 CA6641023 |
39 | T>M | No |
ClinGen ExAC gnomAD |
|
|
rs150272271 CA6641025 |
40 | L>V | No |
ClinGen ESP ExAC TOPMed |
|
|
CA6641026 rs768697928 |
47 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs748267573 CA6641028 |
50 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA385409658 COSM1363218 rs1229675750 |
51 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs763303343 CA6641031 |
53 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA385409706 rs1482018625 |
58 | Y>* | No |
ClinGen gnomAD |
|
|
rs1165160949 CA385409939 |
76 | G>C | No |
ClinGen gnomAD |
|
|
CA385410261 rs1592531833 |
91 | T>P | No |
ClinGen Ensembl |
|
| TCGA novel | 98 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs201549503 CA6641043 |
103 | L>M | No |
ClinGen 1000Genomes ExAC |
|
|
rs941575820 CA237743953 |
105 | E>Q | No |
ClinGen TOPMed |
|
|
CA385410722 rs1353976429 |
110 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1252752850 CA385410735 |
111 | G>R | No |
ClinGen TOPMed |
|
|
rs1282020351 CA385410765 |
112 | L>F | No |
ClinGen gnomAD |
|
| TCGA novel | 115 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA385410846 rs1227664011 |
115 | Q>L | No |
ClinGen TOPMed |
|
|
rs1276495659 CA385410859 |
116 | P>S | No |
ClinGen gnomAD |
|
|
rs1276495659 CA385410860 |
116 | P>T | No |
ClinGen gnomAD |
|
|
CA385410907 rs1195087636 |
118 | P>S | No |
ClinGen gnomAD |
|
|
CA385410941 rs1249926386 |
120 | V>L | No |
ClinGen gnomAD |
|
|
rs766054534 CA237743954 |
125 | I>M | No |
ClinGen Ensembl |
|
|
CA385411072 rs1419402398 |
126 | P>L | No |
ClinGen gnomAD |
|
|
rs749455586 CA6641048 |
127 | L>F | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 127 | L>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1167826053 CA385411203 |
131 | S>F | No |
ClinGen gnomAD |
|
|
CA6641050 rs774515609 |
131 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA237743955 rs138572618 |
134 | A>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA385411255 rs1164381974 |
134 | A>P | No |
ClinGen gnomAD |
|
|
CA6641051 rs138572618 |
134 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA385411318 rs1168743188 |
136 | T>I | No |
ClinGen TOPMed |
|
|
rs772413890 CA6641052 |
137 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1367546982 CA385411326 |
137 | R>W | No |
ClinGen gnomAD |
|
|
rs761211696 CA6641054 |
139 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1034137221 CA237743956 |
140 | S>G | No |
ClinGen Ensembl |
|
|
rs373483501 CA6641055 |
140 | S>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA237743957 COSM256086 rs200872269 |
141 | M>I | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs375356245 CA237743959 |
146 | G>A | No |
ClinGen Ensembl |
|
|
CA237743958 rs372063074 |
146 | G>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
| TCGA novel | 147 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA385411652 rs1346985062 |
149 | G>R | No |
ClinGen gnomAD |
|
| TCGA novel | 150 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs369702193 CA6641058 |
155 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs745816264 CA6641059 |
156 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6641060 rs140433833 |
156 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6641061 rs140433833 |
156 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs745816264 CA385411799 |
156 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA385411955 rs756174711 |
161 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 164 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs777939777 CA6641064 |
165 | E>V | No |
ClinGen ExAC gnomAD |
|
|
rs749387788 CA6641065 |
166 | L>I | No |
ClinGen ExAC gnomAD |
|
|
rs757384340 CA6641066 |
167 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 168 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA237743960 rs1021235753 |
172 | P>L | No |
ClinGen Ensembl |
|
|
CA385412301 rs1301656081 |
179 | A>V | No |
ClinGen gnomAD |
|
|
CA6641069 rs772399002 |
181 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs374092045 CA6641070 COSM132734 |
182 | P>S | central_nervous_system [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
| TCGA novel | 183 | R>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs747502132 CA6641071 |
183 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA385412365 rs1281525385 |
183 | R>W | No |
ClinGen gnomAD |
|
|
CA385412387 rs769165624 |
184 | I>N | No |
ClinGen ExAC gnomAD |
|
|
CA6641072 rs769165624 |
184 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA6641075 rs765855000 |
188 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6641074 rs375695749 |
188 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA385412486 rs1409441331 |
189 | S>N | No |
ClinGen TOPMed |
|
| TCGA novel | 189 | S>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs767403180 CA6641078 |
192 | E>K | No |
ClinGen ExAC |
|
|
rs1314988151 CA385412564 |
193 | S>A | No |
ClinGen TOPMed |
|
|
CA6641079 rs752550446 |
193 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754533258 CA237743962 |
195 | V>A | No |
ClinGen Ensembl |
|
|
rs145415310 CA6641082 |
195 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs145415310 CA6641083 |
195 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1392607180 CA385412626 |
197 | A>T | No |
ClinGen gnomAD |
|
|
rs148039313 CA6641086 |
197 | A>V | No |
ClinGen ESP ExAC TOPMed |
|
|
rs769100184 CA6641090 |
199 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
| rs757086139 | 199 | G>missing | Variant assessed as Somatic; 0.0002393 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1315358462 CA385412682 |
200 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
rs748642990 CA6641092 |
200 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs1238599251 CA385412691 |
201 | E>Q | No |
ClinGen gnomAD |
|
|
CA237743964 rs974519833 |
203 | A>G | No |
ClinGen gnomAD |
|
|
rs974519833 CA385412730 |
203 | A>V | No |
ClinGen gnomAD |
|
| TCGA novel | 205 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA385412763 rs1217988109 |
206 | P>S | No |
ClinGen TOPMed |
|
|
CA385412761 rs1217988109 |
206 | P>T | No |
ClinGen TOPMed |
|
|
rs1183732013 CA385412779 |
207 | P>A | No |
ClinGen gnomAD |
|
|
CA237743965 rs933012739 |
207 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA6641099 rs771851454 |
208 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA237743966 rs1047616691 |
209 | S>C | No |
ClinGen Ensembl |
|
|
rs907823345 CA237743967 |
210 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA385412824 rs2233271 |
211 | P>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1371106131 CA385412827 |
211 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA385412826 rs1371106131 |
211 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
rs2233271 CA6641102 RCV000960277 |
211 | P>S | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs2233271 CA6641103 |
211 | P>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 213 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA385412843 rs1471913257 |
214 | G>E | No |
ClinGen gnomAD |
|
|
CA385412850 rs1162786827 |
215 | G>A | No |
ClinGen gnomAD |
|
|
CA385412857 rs1397280441 |
216 | V>G | No |
ClinGen gnomAD |
|
|
CA6641107 rs542979510 |
217 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
rs758551205 CA6641108 |
220 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs371168386 CA6641109 |
222 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1387136018 CA385412896 |
223 | G>E | No |
ClinGen TOPMed |
|
| TCGA novel | 225 | L>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1343502972 CA385412905 |
225 | L>M | No |
ClinGen gnomAD |
|
| TCGA novel | 225 | L>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs748674945 CA6641113 |
226 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs141760771 CA6641117 |
230 | T>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1333206850 CA385412938 |
231 | G>R | No |
ClinGen gnomAD |
|
|
rs1442336450 CA385412945 |
232 | G>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1442336450 CA385412946 |
232 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1182761004 CA385412950 |
233 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1390559014 CA385412955 |
233 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
rs775610517 CA237743969 |
235 | D>E | No |
ClinGen Ensembl |
|
|
CA237743968 rs377076821 |
235 | D>H | No |
ClinGen ESP TOPMed |
|
|
rs1168208813 CA385412969 |
236 | R>* | No |
ClinGen gnomAD |
|
|
CA385412971 rs914361531 |
236 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
CA237743970 rs914361531 |
236 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1397862625 CA385412984 |
238 | E>D | No |
ClinGen gnomAD |
|
|
rs150590996 CA6641120 |
241 | M>L | No |
ClinGen ESP ExAC gnomAD |
|
|
CA385413014 COSM1728089 rs776347211 |
243 | R>C | liver [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs776347211 CA385413013 |
243 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761753728 CA6641123 |
243 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs761753728 CA6641122 |
243 | R>P | No |
ClinGen ExAC gnomAD |
|
|
rs776347211 CA6641121 |
243 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750478418 CA6641124 |
244 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs762996162 CA6641125 |
245 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA6641126 rs766484588 |
247 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA385413072 rs1445706404 |
248 | S>N | No |
ClinGen gnomAD |
|
|
CA385413155 rs1459756365 |
254 | R>Q | No |
ClinGen gnomAD |
|
|
rs200672078 COSM1216588 CA6641130 |
254 | R>W | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
CA237743971 rs756600654 |
258 | R>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 260 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1451065045 CA385413276 |
264 | V>I | No |
ClinGen gnomAD |
|
|
rs746650811 CA6641136 |
274 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1336292951 CA385413451 |
275 | A>S | No |
ClinGen gnomAD |
|
|
CA6641137 rs768207797 |
276 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6641138 rs776421700 |
277 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769724864 CA6641140 |
278 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs747927391 CA6641139 |
278 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs1242144283 CA385413550 |
280 | H>Y | No |
ClinGen gnomAD |
|
|
CA385413614 rs184597009 |
282 | F>L | No |
ClinGen 1000Genomes TOPMed |
|
|
rs766433018 CA6641143 |
285 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA6641144 rs774427328 |
286 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs1032470694 CA237743976 |
287 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1032470694 CA237743975 |
287 | N>T | No |
ClinGen TOPMed gnomAD |
|
|
rs894308944 CA237743977 |
295 | I>V | No |
ClinGen TOPMed |
|
|
rs756414831 CA6641148 |
298 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs754395904 CA6641150 |
304 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA6641151 rs757901352 |
304 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA6641153 rs779653210 |
305 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA385414173 rs1434282679 |
308 | K>R | No |
ClinGen TOPMed |
|
|
rs1305460082 CA385414195 |
309 | R>Q | No |
ClinGen gnomAD |
|
|
CA6641156 rs747873045 |
310 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs923066254 CA237743978 COSM331751 |
310 | R>W | lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs1592532388 CA385414238 |
311 | E>G | No |
ClinGen Ensembl |
|
|
CA385414303 rs1352401227 |
314 | Q>H | No |
ClinGen gnomAD |
|
|
rs749165097 CA6641159 |
316 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA6641160 rs770856125 |
316 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA385414346 rs770856125 |
316 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA6641161 rs774370192 |
318 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA6641163 rs767681676 |
319 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1478931559 CA385416199 |
322 | I>V | No |
ClinGen TOPMed |
|
|
rs1592532775 CA385416327 |
328 | Q>P | No |
ClinGen Ensembl |
|
|
rs772061153 CA6641199 CA6641198 |
331 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA6641201 rs768954384 |
332 | R>K | No |
ClinGen ExAC gnomAD |
|
|
rs1317883711 CA385416549 |
339 | R>Q | No |
ClinGen gnomAD |
|
|
CA6641206 rs763299566 |
348 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA385416757 rs1435572683 |
348 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 354 | S>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1324623638 CA385416898 |
356 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
CA6641211 rs369196466 |
363 | S>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs369196466 CA6641212 |
363 | S>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA385417038 rs1225623987 |
363 | S>P | No |
ClinGen gnomAD |
|
|
rs369196466 CA385417046 |
363 | S>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 364 | R>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA385417196 rs1592533142 |
366 | H>P | No |
ClinGen Ensembl |
|
|
rs778034252 CA6641240 |
372 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 375 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6641241 rs749512719 |
377 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA385417463 rs1238798167 |
381 | E>Q | No |
ClinGen gnomAD |
|
|
CA385417546 rs1244791633 |
383 | G>R | No |
ClinGen gnomAD |
|
|
CA6641263 rs772519321 |
386 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA385417629 rs1592533295 |
387 | H>P | No |
ClinGen Ensembl |
|
|
CA6641264 rs202106176 |
387 | H>Y | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA385417643 rs1352827060 |
388 | P>A | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 388 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA385417687 rs1565673829 |
390 | I>F | No |
ClinGen Ensembl |
|
|
rs145473405 CA6641265 |
390 | I>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1465348097 CA385417694 |
390 | I>T | No |
ClinGen gnomAD |
|
| TCGA novel | 395 | P>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs772658646 CA6641267 |
395 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs772658646 CA385417786 |
395 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA385417825 rs1216822207 |
397 | P>S | No |
ClinGen gnomAD |
|
|
rs774234247 CA6641270 |
398 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA6641272 rs147286767 |
400 | Y>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA385417917 rs1303975705 |
401 | V>A | No |
ClinGen gnomAD |
|
|
CA385417904 rs1406091664 |
401 | V>I | No |
ClinGen gnomAD |
|
|
rs752676964 CA6641273 |
402 | P>H | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 403 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs78436948 CA6641275 |
404 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA237744090 rs78436948 |
404 | Y>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753869142 COSM98350 CA6641276 |
405 | R>H | upper_aerodigestive_tract Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs1417506015 CA385417990 |
406 | P>L | No |
ClinGen gnomAD |
|
|
rs1177179936 CA385418014 |
407 | S>I | No |
ClinGen gnomAD |
|
|
CA237744091 rs1039809380 |
408 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs779130433 CA6641279 |
409 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA385418065 rs1346141346 |
410 | E>D | No |
ClinGen gnomAD |
|
| rs1431736910 | 410 | E>missing | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1157168029 CA385418096 |
412 | S>G | No |
ClinGen TOPMed |
|
|
rs750748959 CA6641281 |
412 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6641284 rs769045640 |
413 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6641282 rs780466637 |
413 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6641283 COSM296019 rs780466637 |
413 | A>T | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA385418145 rs1284572381 |
414 | S>R | No |
ClinGen gnomAD |
|
|
CA385418150 rs1321054920 |
415 | L>M | No |
ClinGen gnomAD |
|
|
CA385418159 rs1218265094 |
415 | L>P | No |
ClinGen gnomAD |
|
|
rs1241183131 CA385418196 |
418 | E>K | No |
ClinGen TOPMed |
|
|
CA385418218 rs1213334828 |
419 | S>R | No |
ClinGen gnomAD |
|
|
rs770610679 CA6641287 |
421 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA6641288 rs774115078 |
423 | H>P | No |
ClinGen ExAC gnomAD |
|
|
CA6641289 rs774115078 |
423 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA385418307 rs1592533443 |
426 | A>T | No |
ClinGen Ensembl |
|
|
CA385418407 rs1209326563 |
427 | V>M | No |
ClinGen gnomAD |
|
|
CA237744125 rs924608788 CA385418421 |
428 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA385418432 rs1592533640 |
429 | S>A | No |
ClinGen Ensembl |
|
|
CA385418444 rs1196960902 |
429 | S>L | No |
ClinGen gnomAD |
|
|
CA385418526 rs1185756914 |
434 | T>M | No |
ClinGen gnomAD |
|
|
CA237744127 rs1029066357 |
435 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA237744126 rs148773013 |
435 | P>S | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs746803778 CA6641310 |
437 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA385418560 rs1407904977 |
437 | P>S | No |
ClinGen gnomAD |
|
|
CA6641311 rs142426240 |
438 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA385418592 rs1454392004 |
438 | A>V | No |
ClinGen gnomAD |
|
|
rs776404465 CA6641312 |
439 | D>A | No |
ClinGen ExAC gnomAD |
|
|
CA237744128 rs761810425 |
439 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA385418634 rs1228053222 |
441 | P>L | No |
ClinGen gnomAD |
|
|
CA385418680 rs1441634187 |
444 | L>W | No |
ClinGen TOPMed |
|
|
rs1216833026 CA385418743 |
450 | W>* | No |
ClinGen gnomAD |
|
|
rs201857967 CA237744130 |
450 | W>G | No |
ClinGen gnomAD |
|
|
CA385418742 rs201857967 |
450 | W>R | No |
ClinGen gnomAD |
|
|
CA385418771 rs765290829 |
452 | R>* | No |
ClinGen ExAC gnomAD |
|
|
rs765290829 CA6641314 |
452 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA385418893 rs962032465 |
461 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
CA385418931 rs1194489158 |
465 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs113446279 CA6641317 |
467 | A>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA237744132 rs113446279 |
467 | A>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs898891468 CA237744133 |
468 | R>C | No |
ClinGen TOPMed |
|
|
CA385418978 rs1158764389 |
470 | V>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1025942841 CA237744135 |
471 | S>C | No |
ClinGen TOPMed |
|
|
CA237744134 rs995005854 |
471 | S>T | No |
ClinGen TOPMed |
|
|
rs1190224683 CA385419014 |
472 | H>P | No |
ClinGen TOPMed |
|
|
rs1190224683 CA385419016 |
472 | H>R | No |
ClinGen TOPMed |
|
|
CA385419056 rs1360300982 |
474 | R>C | No |
ClinGen gnomAD |
|
|
rs767990738 CA6641321 |
474 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767990738 CA385419063 |
474 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA385419052 rs1360300982 |
474 | R>S | No |
ClinGen gnomAD |
|
|
CA385419072 rs1382752841 |
475 | V>M | No |
ClinGen gnomAD |
|
|
CA385419091 rs1320247375 |
476 | G>D | No |
ClinGen gnomAD |
|
|
rs920868002 CA237744138 |
477 | R>H | No |
ClinGen gnomAD |
|
|
CA385419106 rs920868002 |
477 | R>P | No |
ClinGen gnomAD |
|
|
CA6641322 rs753131155 |
478 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA385419136 rs1487500540 |
479 | S>N | No |
ClinGen gnomAD |
|
|
CA237744139 rs1018853898 |
480 | P>L | No |
ClinGen TOPMed |
|
|
rs1277570607 CA385419154 |
480 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1324619190 CA385419182 |
481 | C>W | No |
ClinGen gnomAD |
|
|
CA237744140 rs930812370 |
481 | C>Y | No |
ClinGen TOPMed |
|
|
CA385419201 rs1225562667 |
482 | V>G | No |
ClinGen gnomAD |
|
|
rs992098461 CA385419207 |
483 | P>A | No |
ClinGen gnomAD |
|
|
CA237744141 rs992098461 |
483 | P>S | No |
ClinGen gnomAD |
|
|
rs375991040 CA6641324 |
484 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA385419238 rs1176416265 |
485 | K>E | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 487 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA385419272 rs1264504810 |
487 | P>S | No |
ClinGen gnomAD |
|
|
rs865949140 CA237744143 COSM1216587 |
489 | A>T | large_intestine [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
rs771078272 CA6641335 CA237744285 |
494 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774428672 CA6641336 |
495 | L>M | No |
ClinGen ExAC |
|
|
rs759859282 CA6641337 |
495 | L>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1459528631 CA385419637 |
496 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1310747836 CA385419639 |
497 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA385419649 rs1445050647 |
498 | R>K | No |
ClinGen TOPMed |
|
| TCGA novel | 498 | R>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA385419670 rs1291799313 |
501 | A>T | No |
ClinGen gnomAD |
|
|
rs1337642798 CA385419685 |
503 | G>E | No |
ClinGen TOPMed |
|
|
CA385419689 rs1392167899 |
504 | P>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1392167899 CA385419691 |
504 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA385419687 rs1390375918 |
504 | P>S | No |
ClinGen gnomAD |
|
|
rs1357629436 CA385419697 |
505 | H>L | No |
ClinGen TOPMed |
|
|
rs1375108249 CA385419706 |
507 | A>T | Variant assessed as Somatic; 6.569e-05 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs536132366 CA6641339 |
507 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1197155083 CA385419735 |
511 | G>D | No |
ClinGen gnomAD |
|
|
rs1480786283 CA385419730 |
511 | G>S | No |
ClinGen gnomAD |
|
|
rs757950689 CA6641343 |
516 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1387028145 CA385419787 |
519 | E>A | No |
ClinGen gnomAD |
|
|
CA6641344 rs779682448 |
521 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs1462724419 CA385419806 |
522 | A>T | No |
ClinGen gnomAD |
|
|
CA385419818 rs1333658731 |
523 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
rs377306225 CA6641345 |
524 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1398322552 CA385419820 |
524 | R>W | No |
ClinGen gnomAD |
|
|
CA385419833 rs1592535770 |
526 | Q>G | No |
ClinGen Ensembl |
No associated diseases with Q15742
No regional properties for Q15742
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| No domain, repeats, and functional sites for Q15742 | |||
2 GO annotations of cellular component
| Name | Definition |
|---|---|
| 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 |
|---|---|
| identical protein binding | Binding to an identical protein or proteins. |
| transcription coregulator activity | A transcription regulator activity that modulates the transcription of specific gene sets via binding to a DNA-bound DNA-binding transcription factor, either on its own or as part of a complex. Coregulators often act by altering chromatin structure and modifications. For example, one class of transcription coregulators modifies chromatin structure through covalent modification of histones. A second class remodels the conformation of chromatin in an ATP-dependent fashion. A third class modulates interactions of DNA-bound DNA-binding transcription factors with other transcription coregulators. |
| transcription corepressor activity | A transcription coregulator activity that represses or decreases the transcription of specific gene sets via binding to a DNA-bound DNA-binding transcription factor, either on its own or as part of a complex. Corepressors often act by altering chromatin structure and modifications. For example, one class of transcription corepressors modifies chromatin structure through covalent modification of histones. A second class remodels the conformation of chromatin in an ATP-dependent fashion. A third class modulates interactions of DNA-bound DNA-binding transcription factors with other transcription coregulators. |
7 GO annotations of biological process
| Name | Definition |
|---|---|
| endochondral ossification | Replacement ossification wherein bone tissue replaces cartilage. |
| myelination | The process in which myelin sheaths are formed and maintained around neurons. Oligodendrocytes in the brain and spinal cord and Schwann cells in the peripheral nervous system wrap axons with compact layers of their plasma membrane. Adjacent myelin segments are separated by a non-myelinated stretch of axon called a node of Ranvier. |
| negative regulation of transcription by RNA polymerase III | Any process that stops, prevents, or reduces the frequency, rate or extent of transcription mediated by RNA polymerase III. |
| positive regulation of tau-protein kinase activity | Any process that activates or increases the frequency, rate or extent of tau-protein kinase activity. |
| regulation of DNA-templated transcription | Any process that modulates the frequency, rate or extent of cellular DNA-templated transcription. |
| regulation of epidermis development | Any process that modulates the frequency, rate or extent of epidermis development. |
| Schwann cell differentiation | The process in which a relatively unspecialized cell acquires the specialized features of a Schwann cell. Schwann cells are found in the peripheral nervous system, where they insulate neurons and axons, and regulate the environment in which neurons function. |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MHRAPSPTAE | QPPGGGDSAR | RTLQPRLKPS | ARAMALPRTL | GELQLYRVLQ | RANLLSYYET |
| 70 | 80 | 90 | 100 | 110 | 120 |
| FIQQGGDDVQ | QLCEAGEEEF | LEIMALVGMA | TKPLHVRRLQ | KALREWATNP | GLFSQPVPAV |
| 130 | 140 | 150 | 160 | 170 | 180 |
| PVSSIPLFKI | SETAGTRKGS | MSNGHGSPGE | KAGSARSFSP | KSPLELGEKL | SPLPGGPGAG |
| 190 | 200 | 210 | 220 | 230 | 240 |
| DPRIWPGRST | PESDVGAGGE | EEAGSPPFSP | PAGGGVPEGT | GAGGLAAGGT | GGGPDRLEPE |
| 250 | 260 | 270 | 280 | 290 | 300 |
| MVRMVVESVE | RIFRSFPRGD | AGEVTSLLKL | NKKLARSVGH | IFEMDDNDSQ | KEEEIRKYSI |
| 310 | 320 | 330 | 340 | 350 | 360 |
| IYGRFDSKRR | EGKQLSLHEL | TINEAAAQFC | MRDNTLLLRR | VELFSLSRQV | ARESTYLSSL |
| 370 | 380 | 390 | 400 | 410 | 420 |
| KGSRLHPEEL | GGPPLKKLKQ | EVGEQSHPEI | QQPPPGPESY | VPPYRPSLEE | DSASLSGESL |
| 430 | 440 | 450 | 460 | 470 | 480 |
| DGHLQAVGSC | PRLTPPPADL | PLALPAHGLW | SRHILQQTLM | DEGLRLARLV | SHDRVGRLSP |
| 490 | 500 | 510 | 520 | ||
| CVPAKPPLAE | FEEGLLDRCP | APGPHPALVE | GRRSSVKVEA | EASRQ |