Q16649
PR
Gene name |
NFIL3 (E4BP4, IL3BP1) |
Protein name |
Nuclear factor interleukin-3-regulated protein |
Names |
E4 promoter-binding protein 4, Interleukin-3 promoter transcriptional activator, Interleukin-3-binding protein 1, Transcriptional activator NF-IL3A |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:4783 |
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 Q16649
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q16649-F1 | Predicted | AlphaFoldDB |
289 variants for Q16649
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs199647996 CA195936770 |
4 | R>K | No |
ClinGen Ensembl |
|
|
rs146293258 RCV000894095 CA5120171 |
9 | V>I | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs766419575 CA5120170 |
10 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA373840254 rs1159915070 |
13 | Q>* | No |
ClinGen gnomAD |
|
|
CA5120169 rs201655156 |
14 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA5120167 rs764265413 |
15 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1587961451 CA373840240 |
15 | S>P | No |
ClinGen Ensembl |
|
|
rs1256484997 CA373840226 |
17 | D>G | No |
ClinGen gnomAD |
|
|
rs775527698 CA5120165 |
18 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA373840216 rs1269486267 |
19 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
CA5120164 rs372066345 |
21 | N>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5120163 rs759828961 |
22 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs774904912 CA5120162 |
23 | D>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs771414117 CA5120161 |
24 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs748844812 CA5120160 |
25 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs777304490 CA5120159 |
26 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs953152814 CA195936768 |
26 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
CA195936767 rs773522463 |
28 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA373840123 rs1321365858 |
32 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA5120157 rs747854683 |
32 | L>S | No |
ClinGen ExAC gnomAD |
|
|
rs780645794 CA5120156 |
33 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1165490017 CA373840110 |
34 | E>D | No |
ClinGen gnomAD |
|
|
rs751389323 CA5120154 |
35 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA373840078 rs1159555118 |
39 | S>C | No |
ClinGen gnomAD |
|
|
rs780192764 CA5120153 |
39 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA5120152 rs758380282 |
40 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA373840073 rs758380282 |
40 | T>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1444938234 CA373840066 |
41 | T>I | No |
ClinGen gnomAD |
|
|
CA5120151 rs199607212 |
42 | G>S | No |
ClinGen 1000Genomes ExAC |
|
|
rs764256859 CA5120150 |
43 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA195936765 rs764256859 |
43 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1208881478 CA373840040 |
46 | L>I | No |
ClinGen gnomAD |
|
|
CA373840030 rs1411865182 |
47 | L>R | No |
ClinGen TOPMed gnomAD |
|
|
CA373840006 rs1356876685 |
50 | G>V | No |
ClinGen gnomAD |
|
|
rs1269389754 CA373840005 |
51 | S>R | No |
ClinGen gnomAD |
|
|
rs1224945605 CA373839997 |
52 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
rs965706116 CA195936763 |
54 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
rs774674177 CA5120145 |
58 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs774674177 CA5120146 |
58 | S>Y | No |
ClinGen ExAC gnomAD |
|
|
rs370737152 CA5120143 |
62 | R>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1406469306 CA373839918 |
64 | R>W | No |
ClinGen gnomAD |
|
|
CA195936761 rs770099404 |
71 | K>N | No |
ClinGen Ensembl |
|
|
rs773539463 CA5120142 |
75 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA373839839 rs1381951292 |
75 | M>V | No |
ClinGen TOPMed |
|
|
CA373839828 rs1188826852 |
76 | Y>C | No |
ClinGen gnomAD |
|
|
rs1327196433 CA373839803 |
79 | K>R | No |
ClinGen TOPMed |
|
|
rs1223050044 CA373839739 |
88 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1191612433 CA373839720 |
91 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA373839704 rs1272192744 |
93 | K>R | No |
ClinGen gnomAD |
|
|
rs1193894365 CA373839700 |
94 | R>S | No |
ClinGen gnomAD |
|
|
CA373839693 rs1430064381 |
95 | R>* | No |
ClinGen Ensembl |
|
| TCGA novel | 95 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA195936760 rs533495773 |
96 | L>R | No |
ClinGen 1000Genomes |
|
|
CA373839626 rs1233887899 |
105 | L>V | No |
ClinGen gnomAD |
|
|
CA373839601 rs1335756572 |
109 | G>A | No |
ClinGen gnomAD |
|
|
CA373839598 rs1432114616 |
110 | E>K | No |
ClinGen gnomAD |
|
|
CA373839590 rs1371592173 |
111 | E>K | No |
ClinGen gnomAD |
|
| TCGA novel | 111 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs778649196 CA5120131 |
113 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA5120132 rs368413458 |
113 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1320345631 CA373839566 |
114 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
CA5120129 rs201907085 |
125 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs1478049325 CA373839498 |
125 | K>Q | No |
ClinGen gnomAD |
|
| TCGA novel | 126 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs767774348 CA5120128 |
130 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs755160396 CA5120127 |
132 | T>A | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA373839437 rs1310725601 |
134 | Y>H | No |
ClinGen TOPMed gnomAD |
|
|
rs763165316 CA5120124 |
135 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1219928640 CA373839415 |
137 | E>A | No |
ClinGen gnomAD |
|
|
rs773840348 CA5120123 |
138 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs113357777 CA195936757 |
139 | Q>* | No |
ClinGen Ensembl |
|
|
rs1277811315 CA373839387 |
141 | L>F | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 142 | S>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 143 | N>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1351576742 CA373839371 |
143 | N>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1351576742 CA373839372 |
143 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
CA5120122 rs765652947 |
143 | N>Y | No |
ClinGen ExAC gnomAD |
|
|
CA195936756 rs905266085 |
144 | S>F | No |
ClinGen TOPMed |
|
|
rs149322631 CA195936755 |
145 | T>K | No |
ClinGen ESP TOPMed |
|
|
rs776252677 CA5120120 |
146 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5120121 rs138611038 |
146 | A>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1393150420 CA373839347 |
148 | Y>H | No |
ClinGen TOPMed |
|
|
CA5120116 rs771905983 |
154 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs1564154858 CA373839288 |
156 | K>E | No |
ClinGen Ensembl |
|
|
CA5120113 rs757117768 |
156 | K>I | No |
ClinGen ExAC gnomAD |
|
|
rs757117768 CA373839286 |
156 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA5120114 rs757117768 |
156 | K>T | No |
ClinGen ExAC gnomAD |
|
|
rs917895790 CA195936754 |
158 | N>I | No |
ClinGen TOPMed |
|
|
CA195936753 rs923229927 |
160 | S>N | No |
ClinGen Ensembl |
|
|
CA5120111 rs781278617 |
162 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs754999202 CA5120110 |
162 | F>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767889385 CA195936751 |
163 | V>M | No |
ClinGen Ensembl |
|
|
rs1230286238 CA373839232 |
165 | E>K | No |
ClinGen gnomAD |
|
|
rs1249434898 CA373839221 |
166 | H>R | No |
ClinGen TOPMed |
|
|
rs1052443585 CA195936750 |
166 | H>Y | No |
ClinGen TOPMed |
|
|
rs1189168389 CA373839215 |
167 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs142259863 CA5120104 |
170 | M>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA373839176 rs1303755489 |
173 | S>G | No |
ClinGen gnomAD |
|
|
CA5120102 rs763712232 |
173 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs760196823 CA5120101 |
174 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA373839150 rs1587960992 |
176 | I>M | No |
ClinGen Ensembl |
|
|
rs775350563 CA5120100 |
176 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA5120098 rs745725185 |
180 | K>T | No |
ClinGen ExAC gnomAD |
|
|
rs773984957 CA5120097 |
181 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA5120096 rs770718343 |
183 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 183 | P>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA373839094 rs1182173308 |
185 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
CA5120094 rs200263217 |
186 | S>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA5120092 rs747084399 |
187 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA5120089 rs750621708 |
189 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA5120090 rs758519888 |
189 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1323963477 CA373839056 |
192 | E>K | No |
ClinGen gnomAD |
|
|
rs1214340798 CA373839044 |
193 | V>G | No |
ClinGen gnomAD |
|
|
CA5120088 rs779168857 |
193 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5120086 rs745956029 |
199 | T>M | No |
ClinGen ExAC gnomAD |
|
|
rs1388762110 CA373838987 |
202 | S>G | No |
ClinGen gnomAD |
|
|
CA5120084 rs764695451 |
203 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5120083 rs760319301 |
205 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
CA373838966 rs1351532240 |
205 | Q>R | No |
ClinGen gnomAD |
|
|
rs1485831335 CA373838959 |
206 | G>E | No |
ClinGen TOPMed |
|
|
rs1024567823 CA195936749 |
207 | S>G | No |
ClinGen Ensembl |
|
|
CA5120082 rs752231634 |
208 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
CA373838942 rs1168616978 |
209 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
rs921665727 CA195936748 |
210 | S>R | No |
ClinGen TOPMed |
|
|
rs767237838 CA5120081 |
211 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1388600424 CA373838923 |
212 | E>K | No |
ClinGen gnomAD |
|
|
CA373838908 rs1190774719 |
213 | N>K | No |
ClinGen TOPMed gnomAD |
|
|
CA5120080 rs759140356 |
214 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA373838894 rs1252457676 |
215 | F>L | No |
ClinGen gnomAD |
|
|
rs1430787692 CA373838841 |
222 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA373838835 rs1204316094 |
223 | M>K | No |
ClinGen TOPMed gnomAD |
|
|
CA5120076 rs773196789 |
224 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA373838796 rs1230201560 |
228 | Y>F | No |
ClinGen gnomAD |
|
|
CA373838787 rs1587960835 |
230 | R>G | No |
ClinGen Ensembl |
|
|
rs1435358465 CA373838781 |
230 | R>S | No |
ClinGen TOPMed |
|
|
rs1315037606 CA373838770 |
232 | P>S | No |
ClinGen TOPMed |
|
|
CA195936747 rs965778388 |
235 | D>A | No |
ClinGen TOPMed gnomAD |
|
|
rs557006515 CA5120075 |
236 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA373838736 rs1214725318 |
237 | G>A | No |
ClinGen gnomAD |
|
| TCGA novel | 237 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 240 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5120073 rs780032094 |
241 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1428971129 CA373838704 |
242 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
CA373838706 rs1428971129 |
242 | S>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs746092420 CA5120071 |
244 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs1430663087 CA373838669 |
247 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
CA195936746 rs868717626 |
248 | M>I | No |
ClinGen Ensembl |
|
| TCGA novel | 252 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 253 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1564154584 CA373838617 |
255 | Y>N | No |
ClinGen Ensembl |
|
|
CA5120068 rs754242741 |
256 | S>L | No |
ClinGen ExAC |
|
|
CA5120067 rs756657356 |
257 | H>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756657356 CA5120066 |
257 | H>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA373838602 rs1434950331 |
257 | H>Y | No |
ClinGen gnomAD |
|
|
CA373838594 rs1308693858 |
258 | S>C | No |
ClinGen gnomAD |
|
|
CA195936744 rs200413160 |
259 | P>A | No |
ClinGen gnomAD |
|
|
CA373838591 rs200413160 |
259 | P>S | No |
ClinGen gnomAD |
|
|
CA5120064 rs370930633 |
260 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs370930633 CA373838583 |
260 | P>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs370930633 CA373838584 |
260 | P>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs376487292 CA5120063 |
261 | L>P | No |
ClinGen ESP ExAC gnomAD |
|
|
CA373838577 rs1230497616 |
262 | L>V | No |
ClinGen gnomAD |
|
|
CA5120061 rs369521634 |
263 | Q>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs769543332 CA5120058 |
265 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5120057 rs140209964 |
266 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA373838541 rs1327653967 |
268 | S>A | No |
ClinGen gnomAD |
|
| TCGA novel | 268 | S>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA373838510 rs1401821645 |
272 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA5120054 rs138527025 |
274 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA373838492 rs1463742754 |
275 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA5120051 rs749708607 |
277 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs777874308 CA195936740 |
277 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs905338036 CA195936739 |
278 | D>V | No |
ClinGen TOPMed |
|
|
rs1442515782 CA373838453 |
281 | V>G | No |
ClinGen TOPMed |
|
|
CA373838429 rs1346773169 |
285 | S>L | No |
ClinGen TOPMed |
|
|
CA373838422 rs377617724 |
286 | S>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5120050 rs377617724 |
286 | S>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5120048 rs748612574 |
288 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1483988907 CA373838392 |
291 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA5120045 rs751063464 |
293 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA195936738 rs145367933 |
300 | H>R | No |
ClinGen ESP TOPMed |
|
|
rs758080805 CA5120043 |
302 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1228831645 CA373838309 |
303 | V>A | No |
ClinGen gnomAD |
|
|
rs750032628 CA5120042 |
305 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA5120041 rs765033487 |
305 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA373838288 rs1398011705 |
306 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
CA5120040 rs761530553 |
307 | H>D | No |
ClinGen ExAC gnomAD |
|
|
rs776499326 CA5120039 |
308 | V>G | No |
ClinGen ExAC gnomAD |
|
|
rs1052444105 CA195936737 |
308 | V>M | No |
ClinGen TOPMed |
|
|
CA195936736 rs563677195 |
309 | H>R | No |
ClinGen Ensembl |
|
|
CA195936735 rs150028386 |
312 | V>M | No |
ClinGen ESP gnomAD |
|
|
CA373838236 rs1391531109 |
315 | V>I | No |
ClinGen gnomAD |
|
|
CA373838237 rs1391531109 |
315 | V>L | No |
ClinGen gnomAD |
|
|
rs1472731528 CA373838212 |
318 | V>G | No |
ClinGen gnomAD |
|
|
CA373838207 rs1367089646 |
319 | N>S | No |
ClinGen gnomAD |
|
|
rs935362729 CA195936733 |
320 | S>A | No |
ClinGen TOPMed |
|
|
rs1020391456 CA195936732 |
331 | A>T | No |
ClinGen Ensembl |
|
|
rs1256420042 CA373838120 |
332 | K>N | No |
ClinGen gnomAD |
|
|
CA195936731 rs998307588 |
332 | K>R | No |
ClinGen TOPMed |
|
|
rs749543865 CA5120034 |
333 | A>T | No |
ClinGen ExAC |
|
|
CA195936730 rs752544316 |
334 | M>T | No |
ClinGen gnomAD |
|
|
rs773510240 CA5120033 |
335 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA373838101 rs1462936313 |
335 | Q>H | No |
ClinGen TOPMed |
|
|
rs1209313730 CA373838070 |
340 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1236752514 CA373838065 |
340 | A>V | No |
ClinGen gnomAD |
|
|
CA373838048 rs1193673593 |
343 | N>H | No |
ClinGen gnomAD |
|
|
CA195936729 rs1040134254 CA373838018 |
346 | E>D | No |
ClinGen Ensembl |
|
|
CA5120031 rs748537740 |
348 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA5120030 rs567150726 |
348 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs1280961777 CA373838006 |
349 | Q>E | No |
ClinGen TOPMed |
|
|
rs1370686768 CA373837994 |
350 | K>T | No |
ClinGen TOPMed |
|
|
CA5120028 rs747437129 |
351 | L>H | No |
ClinGen ExAC gnomAD |
|
|
CA373837979 rs1433106443 |
353 | S>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1390960598 CA373837971 |
354 | P>R | No |
ClinGen gnomAD |
|
|
CA5120027 rs779564338 |
355 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs750082020 CA373837951 |
357 | M>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5120025 rs750082020 |
357 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs371766156 CA5120026 |
357 | M>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 358 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5120024 rs773230504 |
358 | T>K | No |
ClinGen ExAC gnomAD |
|
|
rs147892473 CA5120023 |
359 | S>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA373837931 rs1385535022 |
360 | K>N | No |
ClinGen gnomAD |
|
|
rs34945709 CA5120021 |
364 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA5120019 rs200055387 |
366 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs766580057 CA5120018 |
368 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs1287602311 CA373837868 |
369 | S>N | No |
ClinGen gnomAD |
|
|
rs763056421 CA5120017 |
373 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs770125900 CA5120015 |
374 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs773631235 CA5120016 |
374 | V>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed |
|
CA5120014 rs748508094 |
375 | H>L | No |
ClinGen ExAC gnomAD |
|
|
CA373837827 rs748508094 |
375 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs1397504547 CA373837817 |
377 | S>P | No |
ClinGen gnomAD |
|
|
rs1564154222 CA373837801 |
379 | T>I | No |
ClinGen Ensembl |
|
|
CA373837769 rs1564154213 |
384 | Q>L | No |
ClinGen Ensembl |
|
| TCGA novel | 387 | N>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5120012 rs777088006 |
390 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
rs983126510 CA195936725 |
391 | W>* | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 392 | S>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA373837704 rs1427438303 |
393 | L>R | No |
ClinGen TOPMed gnomAD |
|
|
CA373837700 rs1391619698 |
394 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
CA373837699 rs1391619698 |
394 | K>T | No |
ClinGen TOPMed gnomAD |
|
|
rs747568975 CA5120010 |
395 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs771637370 CA5120008 |
399 | H>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1356220840 CA373837654 |
400 | Q>R | No |
ClinGen TOPMed |
|
|
CA5120007 rs745369279 |
401 | K>E | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 402 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA195936724 rs916907441 |
402 | E>A | No |
ClinGen Ensembl |
|
|
CA5120006 rs778587445 |
403 | L>M | No |
ClinGen ExAC gnomAD |
|
|
rs756904118 CA5120005 |
404 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs753390947 CA5120004 |
405 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs112655896 CA5120003 |
406 | K>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1027341552 CA195936723 |
409 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
CA373837589 rs1174759012 |
410 | S>N | No |
ClinGen gnomAD |
|
|
CA373837592 rs1342995471 |
410 | S>R | No |
ClinGen gnomAD |
|
|
rs1439651643 CA373837580 |
411 | F>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1198084146 CA373837578 |
411 | F>L | No |
ClinGen Ensembl |
|
|
CA195936722 rs757700919 |
413 | T>I | No |
ClinGen Ensembl |
|
|
CA5120001 rs529292945 |
414 | G>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1204708402 CA373837549 |
416 | V>A | No |
ClinGen TOPMed |
|
|
rs767554303 CA5120000 |
417 | E>A | No |
ClinGen ExAC gnomAD |
|
|
CA5119998 rs750505884 |
418 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs763179095 CA373837535 |
418 | M>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5119999 rs763179095 |
418 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA373837505 rs1329153704 |
422 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
rs762121147 CA5119996 |
423 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
CA373837497 rs1367869813 |
423 | Y>D | No |
ClinGen TOPMed |
|
|
CA5119994 rs769073928 |
425 | V>D | No |
ClinGen ExAC |
|
|
CA5119995 rs776663076 |
425 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776663076 CA195936721 |
425 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5119992 rs776035677 |
426 | S>F | No |
ClinGen ExAC |
|
|
CA5119993 rs760944357 |
426 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA5119991 rs772547716 |
427 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA5119990 rs745424263 |
428 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778423887 CA5119989 |
429 | E>V | No |
ClinGen ExAC gnomAD |
|
|
rs770296531 CA5119988 |
431 | L>S | No |
ClinGen ExAC gnomAD |
|
|
rs978889146 CA195936719 |
432 | Y>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA5119986 rs777223711 |
438 | A>P | No |
ClinGen ExAC gnomAD |
|
|
CA373837394 rs1313139113 |
439 | N>Y | No |
ClinGen TOPMed |
|
|
rs1420489934 CA373837377 |
441 | S>F | No |
ClinGen gnomAD |
|
|
CA5119984 rs150612041 |
441 | S>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA373837360 rs1329152438 |
444 | V>F | No |
ClinGen gnomAD |
|
|
rs1587960219 CA373837357 |
444 | V>G | No |
ClinGen Ensembl |
|
|
CA373837355 rs1250876908 |
445 | V>L | No |
ClinGen gnomAD |
|
|
CA373837337 rs1230721504 |
448 | K>E | No |
ClinGen gnomAD |
|
|
rs754932388 CA5119982 |
448 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs368078755 CA195936717 |
450 | L>F | No |
ClinGen ESP TOPMed |
|
|
CA195936716 rs189560102 |
451 | I>L | No |
ClinGen 1000Genomes |
|
|
rs374204202 CA5119980 |
451 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1473511596 CA373837261 |
460 | D>Y | No |
ClinGen gnomAD |
No associated diseases with Q16649
10 regional properties for Q16649
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | SH3 domain | 125 - 184 | IPR001452-1 |
| domain | SH3 domain | 187 - 252 | IPR001452-2 |
| domain | SH3 domain | 382 - 443 | IPR001452-3 |
| domain | Zinc finger, RING-type | 12 - 53 | IPR001841 |
| conserved_site | Zinc finger, RING-type, conserved site | 28 - 37 | IPR017907 |
| domain | Zinc finger, C3HC4 RING-type | 12 - 52 | IPR018957 |
| domain | E3 ubiquitin-protein ligase SH3RF2, RING finger, HC subclass | 11 - 55 | IPR028511 |
| domain | E3 ubiquitin-protein ligase SH3RF2, first SH3 domain | 128 - 181 | IPR035792 |
| domain | E3 ubiquitin-protein ligase SH3RF2, second SH3 domain | 191 - 247 | IPR035794 |
| domain | SH3RF2, third SH3 domain | 386 - 440 | IPR035822 |
3 GO annotations of cellular component
| Name | Definition |
|---|---|
| chromatin | The ordered and organized complex of DNA, protein, and sometimes RNA, that forms the chromosome. |
| 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. |
| RNA polymerase II transcription regulator complex | A transcription factor complex that acts at a regulatory region of a gene transcribed by RNA polymerase II. |
6 GO annotations of molecular function
| Name | Definition |
|---|---|
| DNA-binding transcription factor activity | A transcription regulator activity that modulates transcription of gene sets via selective and non-covalent binding to a specific double-stranded genomic DNA sequence (sometimes referred to as a motif) within a cis-regulatory region. Regulatory regions include promoters (proximal and distal) and enhancers. Genes are transcriptional units, and include bacterial operons. |
| DNA-binding transcription factor activity, RNA polymerase II-specific | A DNA-binding transcription factor activity that modulates the transcription of specific gene sets transcribed by RNA polymerase II. |
| DNA-binding transcription repressor activity, RNA polymerase II-specific | A DNA-binding transcription factor activity that represses or decreases the transcription of specific gene sets transcribed by RNA polymerase II. |
| identical protein binding | Binding to an identical protein or proteins. |
| RNA polymerase II cis-regulatory region sequence-specific DNA binding | Binding to a specific upstream regulatory DNA sequence (transcription factor recognition sequence or binding site) located in cis relative to the transcription start site (i.e., on the same strand of DNA) of a gene transcribed by RNA polymerase II. |
| RNA polymerase II transcription regulatory region sequence-specific DNA binding | Binding to a specific sequence of DNA that is part of a regulatory region that controls the transcription of a gene or cistron by RNA polymerase II. |
11 GO annotations of biological process
| Name | Definition |
|---|---|
| cellular response to interleukin-4 | Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an interleukin-4 stimulus. |
| circadian rhythm | Any biological process in an organism that recurs with a regularity of approximately 24 hours. |
| immune response | Any immune system process that functions in the calibrated response of an organism to a potential internal or invasive threat. |
| natural killer cell differentiation | The process in which a relatively unspecialized cell acquires the specialized features of a natural killer cell. |
| negative regulation of DNA-templated transcription | Any process that stops, prevents, or reduces the frequency, rate or extent of cellular DNA-templated transcription. |
| negative regulation of transcription by RNA polymerase II | Any process that stops, prevents, or reduces the frequency, rate or extent of transcription mediated by RNA polymerase II. |
| positive regulation of DNA-templated transcription | Any process that activates or increases the frequency, rate or extent of cellular DNA-templated transcription. |
| positive regulation of gene expression | Any process that increases the frequency, rate or extent of gene expression. Gene expression is the process in which a gene's coding sequence is converted into a mature gene product (protein or RNA). |
| regulation of DNA-templated transcription | Any process that modulates the frequency, rate or extent of cellular DNA-templated transcription. |
| regulation of transcription by RNA polymerase II | Any process that modulates the frequency, rate or extent of transcription mediated 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). |
6 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q90Z72 | NFIL3 | Nuclear factor interleukin-3-regulated protein | Gallus gallus (Chicken) | PR |
| P17676 | CEBPB | CCAAT/enhancer-binding protein beta | Homo sapiens (Human) | EV |
| P28033 | Cebpb | CCAAT/enhancer-binding protein beta | Mus musculus (Mouse) | SS |
| O08750 | Nfil3 | Nuclear factor interleukin-3-regulated protein | Mus musculus (Mouse) | PR |
| P21272 | Cebpb | CCAAT/enhancer-binding protein beta | Rattus norvegicus (Rat) | SS |
| Q6IMZ0 | Nfil3 | Nuclear factor interleukin-3-regulated protein | Rattus norvegicus (Rat) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MQLRKMQTVK | KEQASLDASS | NVDKMMVLNS | ALTEVSEDST | TGEELLLSEG | SVGKNKSSAC |
| 70 | 80 | 90 | 100 | 110 | 120 |
| RRKREFIPDE | KKDAMYWEKR | RKNNEAAKRS | REKRRLNDLV | LENKLIALGE | ENATLKAELL |
| 130 | 140 | 150 | 160 | 170 | 180 |
| SLKLKFGLIS | STAYAQEIQK | LSNSTAVYFQ | DYQTSKSNVS | SFVDEHEPSM | VSSSCISVIK |
| 190 | 200 | 210 | 220 | 230 | 240 |
| HSPQSSLSDV | SEVSSVEHTQ | ESSVQGSCRS | PENKFQIIKQ | EPMELESYTR | EPRDDRGSYT |
| 250 | 260 | 270 | 280 | 290 | 300 |
| ASIYQNYMGN | SFSGYSHSPP | LLQVNRSSSN | SPRTSETDDG | VVGKSSDGED | EQQVPKGPIH |
| 310 | 320 | 330 | 340 | 350 | 360 |
| SPVELKHVHA | TVVKVPEVNS | SALPHKLRIK | AKAMQIKVEA | FDNEFEATQK | LSSPIDMTSK |
| 370 | 380 | 390 | 400 | 410 | 420 |
| RHFELEKHSA | PSMVHSSLTP | FSVQVTNIQD | WSLKSEHWHQ | KELSGKTQNS | FKTGVVEMKD |
| 430 | 440 | 450 | 460 | ||
| SGYKVSDPEN | LYLKQGIANL | SAEVVSLKRL | IATQPISASD | SG |