Q5BKZ1
PR
Gene name |
ZNF326 (ZIRD) |
Protein name |
DBIRD complex subunit ZNF326 |
Names |
Zinc finger protein 326, Zinc finger protein interacting with mRNPs and DBC1 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:284695 |
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 Q5BKZ1
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q5BKZ1-F1 | Predicted | AlphaFoldDB |
411 variants for Q5BKZ1
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs1208547717 CA341031881 |
2 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
CA341031876 rs1463813441 |
2 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
CA341031877 rs1463813441 |
2 | D>V | No |
ClinGen TOPMed gnomAD |
|
|
CA341031874 rs1270647207 |
2 | D>Y | No |
ClinGen gnomAD |
|
|
rs866008598 CA26602365 |
3 | F>L | No |
ClinGen gnomAD |
|
|
CA943955 rs753655528 |
3 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs1367912502 CA341032385 |
4 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
CA943956 rs754887412 |
4 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201232871 CA943973 |
6 | D>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA26602370 rs868202155 |
6 | D>Y | No |
ClinGen Ensembl |
|
| TCGA novel | 9 | H>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA943978 rs567038811 |
11 | A>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
COSM3689879 CA943979 rs567038811 |
11 | A>T | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
CA341034030 rs1254746603 |
13 | R>G | No |
ClinGen TOPMed |
|
|
CA943980 rs750518508 |
14 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA341034077 rs1195156282 |
15 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs187261775 CA943982 |
18 | G>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA943983 rs754244582 |
20 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA341035126 rs1295645732 |
22 | M>V | No |
ClinGen gnomAD |
|
| TCGA novel | 23 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs780713777 CA944010 COSM3806083 |
24 | R>C | breast [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs1030290951 CA26609231 |
24 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs886435165 CA26609234 |
25 | D>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1314878689 CA341035197 |
26 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1314878689 CA341035200 |
26 | Y>F | No |
ClinGen TOPMed gnomAD |
|
|
rs745476018 CA944011 |
26 | Y>H | No |
ClinGen ExAC |
|
|
CA944013 rs775325111 |
27 | G>D | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs142189388 CA944012 |
27 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA26609293 rs758459389 |
28 | P>H | No |
ClinGen Ensembl |
|
|
CA26609298 rs758459389 |
28 | P>L | No |
ClinGen Ensembl |
|
|
rs762726888 CA944014 |
28 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA944016 rs774099889 |
29 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs768273024 CA944033 |
34 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs979400006 COSM913086 CA26609458 |
36 | R>H | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA944034 rs774229543 |
39 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA944036 rs772180572 |
40 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1158813733 CA341035467 |
41 | G>A | No |
ClinGen Ensembl |
|
|
CA944037 rs138323304 |
43 | Y>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1234133348 CA341035481 |
43 | Y>N | No |
ClinGen gnomAD |
|
|
CA341035504 rs1186471009 |
44 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1260604937 CA341035496 |
44 | G>R | No |
ClinGen TOPMed |
|
|
CA944038 rs759755917 |
45 | G>C | No |
ClinGen ExAC gnomAD |
|
|
rs759755917 CA341035507 |
45 | G>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 46 | Q>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA944039 rs538103200 |
49 | M>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1178494848 CA341035595 |
50 | D>E | No |
ClinGen gnomAD |
|
|
CA26609486 rs925283275 |
53 | L>R | No |
ClinGen Ensembl |
|
|
rs1462357835 CA341035666 |
55 | Q>H | No |
ClinGen gnomAD |
|
|
CA26609498 rs932852842 |
55 | Q>R | No |
ClinGen Ensembl |
|
|
rs763239926 CA944041 |
56 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs1308676620 CA341035700 COSM682767 |
57 | Y>C | lung Variant assessed as Somatic; 4.62e-05 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA944042 rs764318569 |
59 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA341035805 rs1411524105 |
60 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
CA26609523 rs201147468 |
60 | D>N | No |
ClinGen 1000Genomes TOPMed |
|
|
CA341035828 rs1286384836 |
61 | N>S | No |
ClinGen gnomAD |
|
|
CA944043 rs752006166 |
62 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA341035874 rs1280257817 |
63 | S>T | No |
ClinGen gnomAD |
|
|
rs757731170 CA944044 |
64 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs891281401 CA26609532 |
65 | G>D | No |
ClinGen TOPMed |
|
|
rs1344704263 CA341035904 |
65 | G>R | No |
ClinGen TOPMed |
|
|
rs1209737529 CA341035939 |
67 | G>R | No |
ClinGen gnomAD |
|
|
rs768079748 CA944046 |
68 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs1483750402 CA341035985 |
69 | S>G | No |
ClinGen gnomAD |
|
|
CA944061 rs775662477 |
74 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs1313198621 CA341037291 |
74 | Y>H | No |
ClinGen TOPMed |
|
|
rs763065241 CA341037384 |
77 | Y>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA341037421 rs1447698642 |
80 | R>G | No |
ClinGen gnomAD |
|
|
CA944065 rs762226274 |
86 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs767885564 CA944066 |
88 | L>P | No |
ClinGen ExAC |
|
|
CA944067 rs750865828 |
90 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761205397 CA944068 |
92 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA341037704 rs1413399900 |
93 | Y>H | No |
ClinGen TOPMed |
|
|
CA944069 rs139710910 |
93 | Y>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA341037726 rs1320782617 |
94 | G>C | No |
ClinGen gnomAD |
|
|
rs753434426 CA944070 |
94 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA944071 rs754551067 |
95 | F>C | No |
ClinGen ExAC gnomAD |
|
|
rs139757891 CA944072 |
98 | P>L | No |
ClinGen ESP ExAC TOPMed |
|
|
rs1474011999 CA341037818 |
98 | P>S | No |
ClinGen TOPMed |
|
|
COSM1344807 CA341037838 rs1356457768 |
99 | E>K | large_intestine Variant assessed as Somatic; 4.621e-05 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs1196045367 CA341037908 |
101 | S>R | No |
ClinGen gnomAD |
|
|
rs758210031 CA944074 |
102 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs147602076 COSM394223 CA944075 |
102 | R>H | lung Variant assessed as Somatic; 4.62e-05 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1209805856 CA341037966 |
104 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs746902124 CA944076 |
105 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA26611438 rs866112227 |
110 | R>* | No |
ClinGen gnomAD |
|
|
CA341038094 rs201031234 |
110 | R>P | No |
ClinGen gnomAD |
|
|
CA26611439 COSM198144 rs201031234 |
110 | R>Q | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA341038106 rs1440243778 |
111 | F>S | No |
ClinGen gnomAD |
|
|
CA341038122 rs1164913080 |
112 | E>D | No |
ClinGen gnomAD |
|
|
rs1311638851 CA341038136 |
113 | S>N | No |
ClinGen TOPMed |
|
|
CA944078 rs779968951 |
116 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA341038190 rs1226267048 |
117 | N>S | No |
ClinGen TOPMed |
|
|
rs573552332 CA26611440 |
120 | D>N | No |
ClinGen Ensembl |
|
|
CA26611443 rs142094932 |
122 | F>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1460702961 CA341038265 |
122 | F>S | No |
ClinGen gnomAD |
|
|
rs1390596480 CA341038274 |
123 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA26611453 rs768749263 |
124 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs768749263 CA944080 |
124 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs762031358 COSM1196303 CA944082 |
129 | G>R | lung [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs772388825 CA944083 |
132 | W>* | No |
ClinGen ExAC gnomAD |
|
|
CA341038424 rs1368687035 |
134 | A>T | No |
ClinGen TOPMed |
|
|
CA341038434 rs1291955442 |
134 | A>V | No |
ClinGen gnomAD |
|
|
COSM1344808 rs773591916 CA944084 |
136 | Y>C | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs773591916 CA341038452 |
136 | Y>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761061308 CA944085 |
137 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs761061308 CA944086 |
137 | S>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA944087 rs753280517 |
138 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA944088 rs201312408 |
138 | R>H | Variant assessed as Somatic; 0.0009725 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs764851124 CA944089 |
140 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754268076 CA26611521 |
142 | R>G | No |
ClinGen Ensembl |
|
|
CA341038552 rs1407300899 |
144 | G>E | No |
ClinGen TOPMed |
|
| TCGA novel | 150 | G>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 161 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1181936742 CA341038816 |
161 | S>P | No |
ClinGen TOPMed |
|
|
CA944090 rs752331348 |
163 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1254675767 CA341038877 |
164 | H>R | No |
ClinGen TOPMed |
|
|
rs758154916 CA944091 |
165 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs777690314 CA944092 |
166 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA26611545 rs888435221 |
169 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
rs751440525 CA944093 |
170 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA944094 rs757139940 |
172 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs757139940 CA341039042 |
172 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs1310490257 CA341039054 |
173 | R>Q | No |
ClinGen gnomAD |
|
|
CA944095 rs781249686 |
173 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA341039074 rs1354282944 |
174 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1218685819 CA341039062 |
174 | G>R | No |
ClinGen TOPMed |
|
|
CA341039080 rs1354282944 |
174 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
rs369992456 CA944096 |
177 | T>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1334333548 CA341039152 |
178 | P>S | No |
ClinGen gnomAD |
|
|
CA341039176 rs1238839931 |
179 | A>V | No |
ClinGen gnomAD |
|
|
CA944098 rs373571182 |
180 | Y>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs373571182 CA341039189 |
180 | Y>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1209026719 CA341039382 |
189 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs772325997 CA944101 |
190 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA944100 rs772325997 |
190 | Y>S | No |
ClinGen ExAC gnomAD |
|
|
CA341039426 rs1483427940 |
191 | D>G | No |
ClinGen gnomAD |
|
|
rs894692489 CA26611597 |
197 | S>* | No |
ClinGen Ensembl |
|
|
CA341039617 rs1433011353 |
202 | R>Q | No |
ClinGen gnomAD |
|
|
rs199602348 CA26611613 |
204 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs146881632 CA944116 |
212 | S>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1195169427 CA341040930 |
215 | R>T | No |
ClinGen gnomAD |
|
|
CA341040941 rs1267704356 |
216 | P>S | No |
ClinGen gnomAD |
|
|
CA341041013 rs1466286275 |
221 | D>G | No |
ClinGen TOPMed |
|
|
rs748264340 CA944118 |
221 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA944119 rs758611505 |
222 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs778024951 CA944120 |
223 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs1169891794 CA341041047 |
223 | Q>R | No |
ClinGen gnomAD |
|
|
rs747208223 CA944121 |
228 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs140692940 CA944122 |
230 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA341041194 rs1557521218 |
233 | A>V | No |
ClinGen Ensembl |
|
|
CA341041197 rs1570304186 |
234 | A>T | No |
ClinGen Ensembl |
|
|
CA341041238 rs1415134385 |
236 | G>V | No |
ClinGen TOPMed |
|
|
CA341041257 rs1439234891 |
237 | I>R | No |
ClinGen gnomAD |
|
|
CA341041248 rs1271627038 |
237 | I>V | No |
ClinGen gnomAD |
|
|
rs746336511 CA944124 |
239 | R>T | No |
ClinGen ExAC gnomAD |
|
|
rs1570304244 CA341041294 |
240 | K>E | No |
ClinGen Ensembl |
|
|
CA944125 rs770465305 |
240 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775135591 CA944126 |
242 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs114754820 CA944127 |
244 | P>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 246 | N>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA341041395 rs1230884200 |
247 | K>E | No |
ClinGen TOPMed |
|
|
rs148323819 CA944128 |
249 | S>G | No |
ClinGen ESP ExAC |
|
|
CA944129 rs773989977 |
249 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA944131 rs768374630 |
250 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761406715 CA944130 |
250 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs141436368 CA944132 |
251 | T>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1465028139 CA341041513 |
254 | K>R | No |
ClinGen gnomAD |
|
|
CA944133 rs756010740 |
255 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA341041568 rs1258979236 |
257 | K>R | No |
ClinGen gnomAD |
|
|
rs752758127 CA944137 |
261 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA26613662 rs745672410 |
262 | M>T | No |
ClinGen Ensembl |
|
|
CA944138 rs758412419 |
266 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA341041746 rs1164612556 |
268 | S>N | No |
ClinGen gnomAD |
|
|
rs1570308193 CA341042128 |
275 | D>E | No |
ClinGen Ensembl |
|
|
CA26616067 rs199600438 |
275 | D>G | No |
ClinGen 1000Genomes |
|
|
rs1157303424 CA341042117 |
275 | D>H | No |
ClinGen TOPMed |
|
|
CA341042133 rs1471362795 |
276 | P>T | No |
ClinGen TOPMed |
|
|
rs1364680996 CA341042152 |
277 | K>R | No |
ClinGen TOPMed |
|
|
CA944155 rs759498851 |
280 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs1395799048 CA341042210 |
281 | E>K | No |
ClinGen gnomAD |
|
|
rs143700412 CA341042261 |
284 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs143700412 CA944158 |
284 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs143700412 CA944157 |
284 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs913906096 CA26616108 |
284 | R>W | No |
ClinGen Ensembl |
|
|
rs781327217 COSM913096 CA944159 |
285 | R>* | endometrium Variant assessed as Somatic; 4.626e-05 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA341042280 rs1281773617 |
286 | I>T | No |
ClinGen gnomAD |
|
|
rs750689581 CA944160 |
288 | A>S | No |
ClinGen ExAC gnomAD |
|
|
COSM1233893 CA341042308 rs1266200270 |
288 | A>V | large_intestine [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
rs867995270 CA26616118 |
289 | R>W | No |
ClinGen gnomAD |
|
|
rs1490427761 CA341042322 |
290 | R>* | No |
ClinGen TOPMed |
|
|
CA944162 rs201648896 |
290 | R>Q | No |
ClinGen 1000Genomes ESP ExAC gnomAD |
|
|
rs200742612 CA944163 |
291 | E>* | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1433926135 CA341042383 |
294 | R>K | No |
ClinGen TOPMed gnomAD |
|
|
CA944164 rs370289698 |
294 | R>W | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1202943341 CA341042393 |
295 | R>C | No |
ClinGen TOPMed |
|
|
CA944165 rs181139290 |
295 | R>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs747674459 CA944166 |
296 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA341042471 rs1371131759 |
300 | N>I | No |
ClinGen gnomAD |
|
| rs770970244 | 300 | N>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA341042484 rs1382649038 |
301 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
CA341042502 rs1232499298 |
302 | E>G | No |
ClinGen TOPMed |
|
|
CA944169 rs140726228 |
305 | G>R | No |
ClinGen ESP ExAC TOPMed |
|
| TCGA novel | 307 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 310 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA944192 rs770619077 |
313 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA26619794 rs1012229228 |
314 | C>F | No |
ClinGen Ensembl |
|
|
CA341043101 rs1243852818 |
314 | C>S | No |
ClinGen gnomAD |
|
| TCGA novel | 315 | S>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA341043139 rs1264325733 |
319 | F>L | No |
ClinGen gnomAD |
|
|
COSM286825 rs1175498087 CA341043147 |
320 | R>* | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
rs745722042 CA944194 |
320 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA341043148 rs745722042 |
320 | R>Q | Variant assessed as Somatic; 4.66e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA341043151 rs1418758438 |
321 | T>A | No |
ClinGen gnomAD |
|
|
CA944196 rs141069411 |
322 | F>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs200135118 CA26619814 |
323 | E>K | No |
ClinGen Ensembl |
|
|
CA944197 rs762982089 |
323 | E>V | No |
ClinGen ExAC gnomAD |
|
|
rs1439619363 CA341043172 |
324 | E>G | No |
ClinGen gnomAD |
|
|
rs200781563 CA26619822 |
324 | E>K | No |
ClinGen Ensembl |
|
|
CA944200 rs773477819 |
327 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs377475016 CA944199 |
327 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA26619839 rs996259268 |
328 | E>A | No |
ClinGen gnomAD |
|
|
CA341043198 rs1262728573 |
328 | E>Q | No |
ClinGen TOPMed |
|
|
rs766778561 CA944202 |
332 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA944201 rs200399673 |
332 | E>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA26619845 rs990434890 |
332 | E>Q | No |
ClinGen TOPMed |
|
|
rs754238369 CA944203 |
333 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 335 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA341043241 rs1271600220 |
335 | S>P | No |
ClinGen TOPMed gnomAD |
|
|
CA944204 rs755236549 |
338 | E>A | No |
ClinGen ExAC gnomAD |
|
|
CA341043270 rs1268877482 |
339 | T>A | No |
ClinGen TOPMed |
|
|
rs1224641254 CA341043285 |
341 | D>A | No |
ClinGen TOPMed |
|
|
CA944205 rs765635985 |
342 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1413392638 CA341043298 |
343 | I>V | No |
ClinGen Ensembl |
|
|
CA341043308 rs1192507754 |
344 | Q>R | No |
ClinGen gnomAD |
|
|
CA944208 rs371185703 |
347 | T>I | No |
ClinGen ESP ExAC gnomAD |
|
|
CA944209 rs768280134 |
348 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs1373464600 CA341043365 |
352 | V>I | No |
ClinGen TOPMed |
|
|
rs1460779427 CA341043381 |
354 | M>I | No |
ClinGen gnomAD |
|
|
rs756897558 CA944210 |
354 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1189987295 CA341043377 |
354 | M>V | No |
ClinGen gnomAD |
|
|
CA944211 rs780765235 |
356 | F>I | No |
ClinGen ExAC gnomAD |
|
|
CA944231 rs749996454 COSM1344812 |
359 | E>A | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs749996454 CA341043433 |
359 | E>V | No |
ClinGen ExAC gnomAD |
|
|
CA341043453 rs755848042 |
362 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs755848042 CA944232 |
362 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs565838827 CA944233 |
366 | K>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA944234 rs749178022 |
370 | I>V | No |
ClinGen ExAC gnomAD |
|
|
COSM1240736 CA944235 rs768705120 |
371 | R>C | Variant assessed as Somatic; 0.0 impact. oesophagus [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs1196326794 CA341043529 |
373 | Q>E | No |
ClinGen gnomAD |
|
|
rs778932149 CA944236 |
376 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs368152496 CA26620867 |
379 | T>I | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA341043577 rs368152496 |
379 | T>R | No |
ClinGen ESP TOPMed gnomAD |
|
| TCGA novel | 380 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1455329724 CA341043607 |
384 | I>L | No |
ClinGen gnomAD |
|
|
CA944239 rs138813655 |
384 | I>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1455329724 CA341043609 |
384 | I>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA944241 rs748888855 |
386 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 387 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1394764008 CA341043638 |
388 | D>G | No |
ClinGen gnomAD |
|
|
rs1391227698 CA341043643 |
389 | V>I | No |
ClinGen gnomAD |
|
|
rs548176510 CA944242 |
390 | M>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs753450224 CA944258 |
393 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1384047083 CA341043704 |
396 | D>V | No |
ClinGen gnomAD |
|
|
rs778878971 CA944260 |
397 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754749522 CA341043711 |
397 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA944259 rs754749522 |
397 | D>V | No |
ClinGen ExAC gnomAD |
|
|
rs965710988 CA26622493 |
398 | H>Q | No |
ClinGen Ensembl |
|
|
CA944261 rs550259481 |
398 | H>Y | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1378837965 CA341043727 |
399 | M>I | No |
ClinGen Ensembl |
|
|
rs1273505279 CA341043732 |
400 | M>T | No |
ClinGen gnomAD |
|
|
CA944262 rs772182512 |
401 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA341043756 CA944263 rs781099364 |
403 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 404 | T>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA944264 rs746025410 |
405 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs540602790 CA26622518 |
406 | H>D | No |
ClinGen Ensembl |
|
|
CA26622535 rs775715302 |
409 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA944266 rs775715302 |
409 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1487826931 CA341043799 |
410 | C>S | No |
ClinGen TOPMed |
|
|
CA944269 rs774747789 |
412 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs374793285 CA944272 |
414 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA944274 rs765807939 |
416 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA944276 rs754696628 |
418 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs147231898 CA944275 |
418 | H>Y | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1557528254 CA341043855 |
419 | S>G | No |
ClinGen Ensembl |
|
|
rs1447823593 CA341043857 |
419 | S>N | No |
ClinGen TOPMed |
|
|
CA944278 rs752578696 |
428 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1399315527 CA341043929 |
429 | D>G | No |
ClinGen gnomAD |
|
|
CA26622629 rs1049044396 |
431 | I>T | No |
ClinGen TOPMed |
|
|
CA341043942 rs1293894114 |
431 | I>V | No |
ClinGen gnomAD |
|
|
rs1284464426 CA341043948 |
432 | K>E | No |
ClinGen TOPMed |
|
|
rs758404686 CA944279 |
432 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA341043951 rs1218611881 |
432 | K>R | No |
ClinGen TOPMed |
|
|
rs777823003 CA944280 |
433 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA944281 rs746934126 |
435 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA341044007 rs1384429962 |
438 | K>N | No |
ClinGen TOPMed |
|
|
CA341044017 rs1281885345 |
440 | Q>E | No |
ClinGen gnomAD |
|
|
rs150759616 CA944300 |
441 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 443 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs757189264 CA944301 |
446 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA944302 rs780149353 |
447 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA341044086 rs1352492841 |
450 | T>A | No |
ClinGen TOPMed |
|
|
CA26624011 rs1025287857 |
453 | L>* | No |
ClinGen Ensembl |
|
|
rs906452176 CA26624019 |
457 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
COSM278289 rs572409353 CA944303 |
460 | A>V | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA341044221 rs1175544219 COSM1344813 |
461 | R>* | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
| TCGA novel | 461 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs779045342 CA944305 |
462 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA341044245 rs1446497209 |
463 | E>A | No |
ClinGen TOPMed |
|
|
CA26624035 rs1032326684 |
464 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA341044259 rs1412620628 |
464 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1412620628 CA341044261 |
464 | R>L | No |
ClinGen gnomAD |
|
|
rs1175359639 CA341044285 |
466 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1354885658 CA341044290 |
467 | K>E | No |
ClinGen gnomAD |
|
|
CA341044896 rs1327568447 |
469 | E>A | No |
ClinGen gnomAD |
|
|
CA341044908 rs1260651178 |
470 | N>K | No |
ClinGen TOPMed |
|
|
rs778991749 CA944326 |
474 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA944327 rs752872448 |
476 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs778171369 CA944329 |
478 | S>A | No |
ClinGen ExAC gnomAD |
|
|
CA944331 rs771458193 |
482 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
CA26628355 rs912482843 |
483 | I>T | No |
ClinGen TOPMed |
|
|
rs781742457 CA944334 |
484 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs746382929 CA944336 |
485 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA944335 rs746382929 |
485 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA341045016 rs1451081555 |
486 | D>G | No |
ClinGen gnomAD |
|
|
CA341045041 rs1342867371 |
489 | D>G | No |
ClinGen TOPMed |
|
|
rs775188551 CA944338 |
489 | D>Y | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 490 | E>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA341045055 rs1276380842 |
491 | E>G | No |
ClinGen TOPMed |
|
|
CA944340 rs762634277 |
491 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1422635780 CA341045060 |
492 | K>E | No |
ClinGen gnomAD |
|
|
rs768258746 CA341045063 |
492 | K>M | No |
ClinGen ExAC gnomAD |
|
|
rs768258746 CA944341 |
492 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA26628398 rs999042600 |
493 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
CA341045067 rs1166606069 |
493 | I>V | No |
ClinGen gnomAD |
|
|
CA26628405 rs562861314 |
495 | E>* | No |
ClinGen Ensembl |
|
|
CA341045091 rs1404420460 |
496 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA944342 rs774180779 |
496 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA944343 rs761454055 |
497 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA944345 rs767300359 |
501 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs10922744 CA341045159 |
505 | E>D | No |
ClinGen 1000Genomes ESP TOPMed gnomAD |
|
| TCGA novel | 506 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs535814299 CA26628446 |
507 | E>K | No |
ClinGen 1000Genomes gnomAD |
|
|
rs750316946 CA944351 |
508 | E>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1235578445 CA341045176 |
508 | E>K | No |
ClinGen gnomAD |
|
|
CA944353 rs765282664 |
509 | A>E | No |
ClinGen ExAC TOPMed |
|
|
CA944352 rs760633053 |
509 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1205961925 CA341045187 |
510 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA944354 rs752763172 |
511 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs758645249 CA944355 |
512 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs1214328440 CA341045210 |
513 | G>E | No |
ClinGen gnomAD |
|
| TCGA novel | 514 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA944357 rs777916895 |
514 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA944358 rs751821921 |
515 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA341045220 rs1485975896 |
515 | V>I | No |
ClinGen gnomAD |
|
| TCGA novel | 516 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA944361 rs74973117 |
519 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs140505111 CA341045262 |
521 | V>I | No |
ClinGen gnomAD |
|
|
CA26628587 rs140505111 |
521 | V>L | No |
ClinGen gnomAD |
|
|
CA341045270 rs1417188593 |
522 | E>A | No |
ClinGen gnomAD |
|
|
CA26628597 rs975911908 |
522 | E>D | No |
ClinGen Ensembl |
|
| TCGA novel | 522 | E>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA944364 rs770463393 |
525 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA341045298 rs1292738856 |
526 | E>G | No |
ClinGen TOPMed |
|
| TCGA novel | 528 | G>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA341045316 rs1340312083 |
529 | I>L | No |
ClinGen gnomAD |
|
|
rs147693443 CA944366 |
532 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1281537898 CA341045344 |
533 | G>R | No |
ClinGen gnomAD |
|
|
CA341045351 rs1351556631 |
534 | N>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA341045361 rs1281154684 |
535 | I>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA341045360 rs547577801 |
535 | I>R | No |
ClinGen gnomAD |
|
|
CA26628640 rs547577801 |
535 | I>T | No |
ClinGen gnomAD |
|
|
rs768223629 CA944367 |
538 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1393999934 CA341045381 |
539 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA341045395 rs1182057490 |
541 | G>R | No |
ClinGen gnomAD |
|
|
rs1162095051 CA341045420 |
544 | V>G | No |
ClinGen TOPMed |
|
|
rs1395177746 CA341045437 |
547 | V>A | No |
ClinGen gnomAD |
|
|
rs1239082715 CA341045441 |
548 | G>E | No |
ClinGen TOPMed |
|
|
COSM305427 rs747863291 CA944370 |
548 | G>R | central_nervous_system [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
| TCGA novel | 550 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA944371 rs771802449 |
551 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA26628700 rs867732494 |
552 | G>E | No |
ClinGen Ensembl |
|
|
CA26628691 rs372653166 |
552 | G>R | No |
ClinGen Ensembl |
|
|
CA341045473 rs1401910745 |
553 | V>A | No |
ClinGen gnomAD |
|
|
CA944372 rs773045220 |
554 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA944374 rs760578156 |
555 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA944376 rs775629417 |
556 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA26628815 rs909300698 |
557 | E>G | No |
ClinGen TOPMed |
|
|
CA944377 rs762886539 |
558 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA341045511 rs1235310332 |
559 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
rs751693631 CA944379 |
562 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1285232012 CA341045534 |
563 | E>K | No |
ClinGen TOPMed |
|
|
rs138644355 CA944381 |
564 | E>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 565 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 565 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs750883715 CA944382 |
567 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA944384 rs780365345 |
569 | E>A | No |
ClinGen ExAC gnomAD |
|
|
rs749803574 CA944385 |
569 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA341045582 rs1462963116 |
570 | E>K | No |
ClinGen gnomAD |
|
|
CA944386 rs754401771 |
572 | A>P | No |
ClinGen ExAC gnomAD |
|
|
CA26628894 rs1055082008 |
572 | A>V | No |
ClinGen Ensembl |
|
|
rs1333760755 CA341045602 |
573 | D>N | No |
ClinGen TOPMed |
|
|
CA944387 rs778504217 |
573 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA341045609 rs1465295403 |
574 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
CA944388 rs747781397 |
574 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA944389 rs771755674 |
576 | V>F | No |
ClinGen ExAC gnomAD |
|
|
CA341045632 rs1300718766 |
577 | E>D | No |
ClinGen gnomAD |
|
|
rs918163871 CA26628926 |
579 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA944390 rs772990206 |
580 | E>A | No |
ClinGen ExAC gnomAD |
|
|
CA26628928 rs949658558 |
580 | E>Q | No |
ClinGen TOPMed |
|
|
rs375568133 CA944391 |
581 | E>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs770727657 CA944392 |
582 | N>T | No |
ClinGen ExAC TOPMed gnomAD |
No associated diseases with Q5BKZ1
5 GO annotations of cellular component
| Name | Definition |
|---|---|
| DBIRD complex | A protein complex that associates with mRNP particles and RNA polymerase II and is proposed to integrate transcript elongation with the regulation of alternative splicing. In humans it is composed of the proteins KIAA1967/DBC1 and ZNF326/ZIRD. |
| intracellular membrane-bounded organelle | Organized structure of distinctive morphology and function, bounded by a single or double lipid bilayer membrane and occurring within the cell. Includes the nucleus, mitochondria, plastids, vacuoles, and vesicles. Excludes the plasma membrane. |
| nuclear matrix | The dense fibrillar network lying on the inner side of the nuclear membrane. |
| 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. |
4 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). |
| metal ion binding | Binding to a metal ion. |
| RNA binding | Binding to an RNA molecule or a portion thereof. |
| RNA polymerase II complex binding | Binding to an RNA polymerase II core enzyme, a multisubunit eukaryotic nuclear RNA polymerase typically composed of twelve subunits. |
4 GO annotations of biological process
| Name | Definition |
|---|---|
| mRNA processing | Any process involved in the conversion of a primary mRNA transcript into one or more mature mRNA(s) prior to translation into polypeptide. |
| regulation of DNA-templated transcription elongation | Any process that modulates 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. |
| regulation of RNA splicing | Any process that modulates the frequency, rate or extent of RNA splicing, the process of removing sections of the primary RNA transcript to remove sequences not present in the mature form of the RNA and joining the remaining sections to form the mature form of the RNA. |
| RNA splicing | The process of removing sections of the primary RNA transcript to remove sequences not present in the mature form of the RNA and joining the remaining sections to form the mature form of the RNA. |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MDFEDDYTHS | ACRNTYQGFN | GMDRDYGPGS | YGGMDRDYGH | GSYGGQRSMD | SYLNQSYGMD |
| 70 | 80 | 90 | 100 | 110 | 120 |
| NHSGGGGGSR | FGPYESYDSR | SSLGGRDLYR | SGYGFNEPEQ | SRFGGSYGGR | FESSYRNSLD |
| 130 | 140 | 150 | 160 | 170 | 180 |
| SFGGRNQGGS | SWEAPYSRSK | LRPGFMEDRG | RENYSSYSSF | SSPHMKPAPV | GSRGRGTPAY |
| 190 | 200 | 210 | 220 | 230 | 240 |
| PESTFGSRNY | DAFGGPSTGR | GRGRGHMGDF | GSIHRPGIVV | DYQNKSTNVT | VAAARGIKRK |
| 250 | 260 | 270 | 280 | 290 | 300 |
| MMQPFNKPSG | TFIKKPKLAK | PMEKISLSKS | PTKTDPKNEE | EEKRRIEARR | EKQRRRREKN |
| 310 | 320 | 330 | 340 | 350 | 360 |
| SEKYGDGYRM | AFTCSFCKFR | TFEEKDIELH | LESSSHQETL | DHIQKQTKFD | KVVMEFLHEC |
| 370 | 380 | 390 | 400 | 410 | 420 |
| MVNKFKKTSI | RKQQTNNQTE | VVKIIEKDVM | EGVTVDDHMM | KVETVHCSAC | SVYIPALHSS |
| 430 | 440 | 450 | 460 | 470 | 480 |
| VQQHLKSPDH | IKGKQAYKEQ | IKRESVLTAT | SILNNPIVKA | RYERFVKGEN | PFEIQDHSQD |
| 490 | 500 | 510 | 520 | 530 | 540 |
| QQIEGDEEDE | EKIDEPIEEE | EDEDEEEEAE | EVGEVEEVEE | VEEVREGGIE | GEGNIQGVGE |
| 550 | 560 | 570 | 580 | ||
| GGEVGVVGEV | EGVGEVEEVE | ELEEETAKEE | PADFPVEQPE | EN |