Q00978
PR
Gene name |
IRF9 (ISGF3G) |
Protein name |
Interferon regulatory factor 9 |
Names |
IRF-9, IFN-alpha-responsive transcription factor subunit, ISGF3 p48 subunit, Interferon-stimulated gene factor 3 gamma, ISGF-3 gamma, Transcriptional regulator ISGF3 subunit gamma |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:10379 |
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 Q00978
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q00978-F1 | Predicted | AlphaFoldDB |
270 variants for Q00978
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
RCV000855435 CA389211141 rs1594390415 |
331 | D>N | Immunodeficiency 65, susceptibility to viral infections [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
| TCGA novel | 2 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs757387116 CA7126323 |
3 | S>A | No |
ExAC gnomAD ClinGen |
|
|
rs367862499 CA7126324 |
3 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ESP ExAC TOPMed gnomAD ClinGen NCI-TCGA |
|
rs1447858243 CA389198796 |
7 | R>C | No |
gnomAD ClinGen |
|
|
CA389198800 rs1166537329 |
7 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
gnomAD ClinGen NCI-TCGA |
|
CA7126326 rs754802950 |
8 | C>G | No |
ExAC ClinGen |
|
|
CA257864815 rs888832533 |
9 | T>N | No |
ClinGen TOPMed gnomAD |
|
|
CA7126330 rs769270505 |
10 | R>P | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs769270505 COSM954927 CA7126329 |
10 | R>Q | Variant assessed as Somatic; 0.0 impact. endometrium urinary_tract [NCI-TCGA, Cosmic] | No |
ExAC TOPMed gnomAD ClinGen cosmic curated NCI-TCGA |
|
rs755603822 CA257864828 |
11 | K>E | No |
ClinGen Ensembl |
|
|
rs748710424 CA7126331 |
12 | L>P | No |
ExAC gnomAD ClinGen |
|
|
CA7126333 rs774818911 |
13 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA389198944 rs774818911 |
13 | R>P | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs774818911 CA389198942 |
13 | R>Q | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA257864836 rs943150166 |
13 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
TOPMed gnomAD ClinGen NCI-TCGA |
|
rs760093681 CA7126334 |
14 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA257864840 rs1032420132 |
14 | N>Y | No |
Ensembl ClinGen |
|
| TCGA novel | 20 | V>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1377923513 CA389199100 |
21 | E>G | No |
TOPMed ClinGen |
|
|
CA7126336 rs374715921 |
22 | S>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs761048297 CA7126337 |
23 | G>R | No |
ExAC ClinGen |
|
|
CA7126338 rs764179752 |
24 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs1416463495 CA389199163 |
26 | P>H | No |
ClinGen TOPMed |
|
| TCGA novel | 26 | P>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1375821921 CA389199166 |
27 | G>R | No |
ClinGen TOPMed |
|
|
CA7126341 rs765412160 |
28 | V>A | No |
ExAC gnomAD ClinGen |
|
|
CA389199172 rs1307390686 |
28 | V>M | No |
TOPMed ClinGen |
|
|
rs1245111601 CA389199198 |
31 | D>A | No |
ClinGen gnomAD |
|
|
CA7126344 rs767572661 |
33 | T>R | No |
ExAC gnomAD ClinGen |
|
|
CA7126347 rs755970537 |
34 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756709007 CA7126350 |
37 | M>T | No |
ExAC gnomAD ClinGen |
|
|
rs778462458 CA7126351 |
39 | R>Q | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs1190315859 CA389199306 |
39 | R>W | No |
ClinGen TOPMed |
|
|
CA389199376 rs1450674262 |
44 | H>R | No |
gnomAD ClinGen |
|
|
rs772511123 CA7126353 |
45 | A>S | No |
ExAC gnomAD ClinGen |
|
|
rs529525046 CA7126354 |
48 | Q>H | No |
1000Genomes ExAC gnomAD ClinGen |
|
|
rs201638725 CA7126357 |
51 | R>L | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
| TCGA novel | 51 | R>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs201638725 COSM223677 CA7126356 |
51 | R>Q | Variant assessed as Somatic; 0.0 impact. skin [NCI-TCGA, Cosmic] | No |
ESP ExAC TOPMed gnomAD ClinGen cosmic curated NCI-TCGA |
|
rs1189415573 COSM432938 CA389199490 |
53 | D>Y | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
gnomAD ClinGen cosmic curated NCI-TCGA |
|
CA7126361 rs763144499 |
54 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs368018498 CA7126362 |
56 | A>G | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA389199575 rs1455207730 |
57 | A>D | No |
ClinGen gnomAD |
|
|
CA7126365 rs764012274 |
59 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs1430830711 CA389199862 |
61 | A>S | No |
ClinGen gnomAD |
|
|
rs763943916 CA7126385 |
63 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs578020463 CA7126387 |
67 | G>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs764836318 CA7126388 |
69 | Y>H | No |
ExAC gnomAD ClinGen |
|
|
CA257865211 rs1030228619 |
72 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA257865217 rs926909686 |
73 | D>H | No |
ClinGen gnomAD |
|
|
CA7126389 rs371863503 |
73 | D>V | No |
ESP ExAC gnomAD ClinGen |
|
| TCGA novel | 76 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA389201424 rs1274507545 |
76 | G>S | No |
gnomAD ClinGen |
|
|
CA7126390 rs542171718 |
79 | V>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA7126391 rs779605281 |
80 | W>* | No |
ExAC ClinGen |
|
|
rs751031207 CA7126392 |
83 | R>C | No |
ExAC gnomAD ClinGen |
|
|
CA7126393 rs755452055 |
83 | R>H | No |
ExAC gnomAD ClinGen |
|
|
CA7126395 rs748503040 |
85 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA7126396 rs770324555 |
85 | R>H | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs778122593 CA7126397 |
86 | C>R | No |
ClinGen ExAC gnomAD |
|
|
rs749583001 CA7126398 |
89 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1438162875 CA389201884 |
90 | K>* | No |
TOPMed ClinGen |
|
|
rs771133989 CA7126399 |
90 | K>N | No |
ExAC gnomAD ClinGen |
|
|
rs1449671030 CA389201898 |
90 | K>R | No |
ClinGen gnomAD |
|
|
rs1429435759 CA389202117 |
97 | V>F | No |
ClinGen gnomAD |
|
|
CA7126401 rs759549489 |
102 | R>C | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs370001528 COSM275588 CA7126402 |
102 | R>H | large_intestine [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA389202323 rs370001528 |
102 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 103 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs925633194 CA257865249 |
106 | A>V | No |
TOPMed ClinGen |
|
|
rs761571684 CA7126404 |
107 | E>D | No |
ExAC gnomAD ClinGen |
|
|
rs1366260197 CA389202663 |
109 | Y>* | No |
ClinGen gnomAD |
|
|
rs1343247020 CA389202638 |
109 | Y>F | No |
TOPMed ClinGen |
|
|
CA257865253 rs955762978 |
118 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
CA389202952 rs955762978 |
118 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
rs377127138 CA7126406 |
120 | V>I | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA389203150 rs1265662520 |
122 | G>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
TOPMed gnomAD ClinGen NCI-TCGA |
|
rs1160687846 CA389203161 |
123 | Q>R | No |
ClinGen Ensembl |
|
|
CA7126427 rs759067809 |
124 | P>T | No |
ExAC gnomAD ClinGen |
|
|
rs145480303 VAR_083496 RCV000908209 CA7126428 |
127 | Q>H | does not affect transcriptional activation in response to type I interferon stimulation; does not affect anti-viral immunity [UniProt] | No |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA257865374 rs147268325 |
128 | K>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7126431 rs756626683 |
130 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7126430 rs756626683 |
130 | P>Q | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs866768910 CA257865380 |
130 | P>T | No |
Ensembl ClinGen |
|
|
rs1566620067 CA389203393 |
131 | S>* | No |
ClinGen Ensembl |
|
|
rs374217831 CA257865390 |
131 | S>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7126432 rs374217831 |
131 | S>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA389203417 rs1413232897 |
133 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
gnomAD ClinGen NCI-TCGA |
|
CA7126433 rs368719985 |
133 | R>Q | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA7126434 rs779171817 |
134 | Q>P | No |
ClinGen ExAC |
|
|
CA389203460 rs1157264870 |
135 | H>Y | No |
gnomAD ClinGen |
|
|
CA7126435 rs746133496 |
136 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758499770 CA7126436 |
137 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA7126437 rs571189247 |
138 | V>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs571189247 CA389203541 |
138 | V>M | No |
1000Genomes ExAC TOPMed gnomAD ClinGen |
|
| TCGA novel | 141 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1381252128 CA389203670 |
142 | R>K | No |
ClinGen gnomAD |
|
|
rs1171704848 CA389203781 |
147 | D>G | No |
TOPMed ClinGen |
|
|
rs747100945 CA7126438 |
147 | D>N | No |
ExAC gnomAD ClinGen |
|
|
rs1388317494 CA389203837 |
149 | M>I | No |
ClinGen gnomAD |
|
|
CA7126439 rs769667066 |
149 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs1292427886 CA389203813 |
149 | M>V | No |
gnomAD ClinGen |
|
|
rs773161779 CA7126440 |
151 | N>I | No |
ExAC gnomAD ClinGen |
|
|
rs1461081228 CA389203928 |
152 | C>F | No |
ClinGen TOPMed |
|
|
CA389203919 rs1265879565 |
152 | C>R | No |
gnomAD ClinGen |
|
|
CA7126441 rs749049284 |
153 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA389203955 rs1416172409 |
153 | T>S | No |
ClinGen TOPMed |
|
|
rs979934277 CA257865424 |
159 | L>P | No |
TOPMed gnomAD ClinGen |
|
|
CA257865421 rs971569333 |
159 | L>V | No |
ClinGen TOPMed |
|
|
CA389204164 rs1283644006 |
160 | Q>* | No |
gnomAD ClinGen |
|
|
CA7126443 rs774042114 |
161 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA389204220 rs1175966082 |
161 | D>V | No |
ClinGen TOPMed |
|
|
rs1328403960 CA389204271 |
162 | S>F | No |
ClinGen gnomAD |
|
|
rs759181149 CA7126444 |
164 | N>S | No |
ExAC gnomAD ClinGen |
|
|
rs1473792230 CA389204322 |
165 | N>H | No |
gnomAD ClinGen |
|
|
CA7126460 rs751598576 |
166 | E>D | No |
ExAC gnomAD ClinGen |
|
|
rs755088930 CA7126461 |
167 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1270925231 CA389204574 COSM3744280 |
168 | E>D | liver [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
rs777662554 CA7126462 |
171 | S>G | No |
ExAC gnomAD ClinGen |
|
|
CA389204691 rs1193188177 |
171 | S>N | No |
gnomAD ClinGen |
|
|
CA7126465 rs778506067 |
172 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA389204730 rs201838285 CA7126464 |
172 | G>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA389204723 rs201838285 |
172 | G>W | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs771580188 CA7126467 |
173 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA7126466 rs745688708 |
173 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs1294955435 CA389204860 |
176 | H>Y | No |
gnomAD ClinGen |
|
|
CA7126468 rs775317611 |
177 | S>A | No |
ClinGen ExAC gnomAD |
|
|
CA389204918 rs1439533647 |
177 | S>L | No |
ClinGen gnomAD |
|
|
CA389205010 rs1594389647 |
179 | I>M | No |
ClinGen Ensembl |
|
|
CA389205005 rs1409572967 |
179 | I>T | No |
TOPMed gnomAD ClinGen |
|
|
CA7126472 rs199740615 |
181 | S>N | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA389205195 rs1000222186 |
184 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
rs768337516 CA389205212 |
185 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs768337516 CA7126473 |
185 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA7126474 rs777271237 |
185 | S>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ExAC gnomAD ClinGen NCI-TCGA |
|
CA389205235 rs1223992422 |
186 | S>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1448536650 CA389205303 |
187 | S>R | No |
ClinGen TOPMed |
|
|
CA7126475 rs762156958 |
190 | P>S | No |
ExAC gnomAD ClinGen |
|
| TCGA novel | 191 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1594389699 CA389205441 |
192 | E>G | No |
ClinGen Ensembl |
|
|
CA7126476 rs765783196 |
192 | E>K | No |
ExAC gnomAD ClinGen |
|
|
CA7126500 rs375398359 |
193 | V>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7126477 rs750703757 |
193 | V>I | No |
ExAC gnomAD ClinGen |
|
|
CA389205600 rs1400046248 |
194 | T>I | No |
ClinGen TOPMed |
|
| TCGA novel | 195 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1355267181 CA389205669 |
197 | T>A | No |
gnomAD ClinGen |
|
|
CA257865711 rs558777953 |
197 | T>I | No |
1000Genomes ClinGen |
|
|
rs1290464808 CA389205719 |
198 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1160369224 CA389205692 |
198 | E>K | No |
TOPMed ClinGen |
|
|
CA7126501 rs756253044 |
198 | E>V | No |
ExAC gnomAD ClinGen |
|
|
CA257865719 rs1025449839 |
199 | A>G | No |
TOPMed gnomAD ClinGen |
|
|
CA389205737 rs1025449839 |
199 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA7126502 rs149763750 |
200 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA389205756 rs1327090738 |
200 | P>S | No |
ClinGen gnomAD |
|
|
rs369645997 CA7126505 CA7126506 |
203 | G>R | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA389205908 rs1594389820 |
204 | D>H | No |
Ensembl ClinGen |
|
|
CA257865749 rs3181983 |
206 | R>S | No |
ClinGen Ensembl |
|
|
rs983796509 CA257865753 |
207 | S>C | No |
ClinGen Ensembl |
|
|
rs1594389830 CA389205981 |
207 | S>T | No |
ClinGen Ensembl |
|
|
rs1474772460 CA389206040 |
209 | E>Q | No |
gnomAD ClinGen |
|
|
CA7126508 rs780928294 |
213 | P>L | No |
ExAC gnomAD ClinGen |
|
|
CA7126509 rs200167126 |
214 | P>L | No |
1000Genomes ExAC TOPMed gnomAD ClinGen |
|
|
rs1413722270 CA389206182 |
214 | P>S | No |
TOPMed gnomAD ClinGen |
|
|
rs189704574 CA257865764 |
216 | P>Q | No |
ClinGen 1000Genomes |
|
|
rs569115226 CA7126539 |
218 | Y>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
1000Genomes ExAC TOPMed gnomAD ClinGen NCI-TCGA |
|
CA389206846 rs1450609382 |
219 | S>* | No |
gnomAD ClinGen |
|
|
rs766387218 CA7126540 |
223 | T>I | No |
ClinGen ExAC gnomAD |
|
|
COSM4150758 CA7126542 rs759390875 |
226 | Y>C | kidney [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs1460125657 CA389207116 |
229 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
gnomAD ClinGen NCI-TCGA |
|
rs767411496 CA7126543 |
229 | R>H | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA7126545 rs148996083 |
230 | V>M | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA7126547 rs753305915 |
233 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA389207220 rs1226421682 |
234 | A>T | No |
ClinGen gnomAD |
|
|
rs995214538 CA257866119 |
234 | A>V | No |
TOPMed ClinGen |
|
|
CA7126548 rs756805161 |
235 | Q>H | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 235 | Q>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs779374557 CA7126549 |
237 | Q>R | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs746434989 CA7126550 |
238 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1489191526 CA389207477 |
240 | D>H | No |
TOPMed ClinGen |
|
|
rs1190999746 CA389207533 |
241 | C>Y | No |
ClinGen gnomAD |
|
|
CA389207558 rs1260270671 |
242 | R>C | No |
ClinGen gnomAD |
|
|
CA7126552 rs780404947 |
242 | R>H | No |
ExAC gnomAD ClinGen |
|
|
CA389207935 rs1291097316 |
248 | S>* | No |
Ensembl ClinGen |
|
|
CA7126556 rs370632116 |
249 | G>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs375151820 CA257866139 |
249 | G>R | No |
ClinGen Ensembl |
|
|
CA389208029 rs1275470109 |
250 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
CA7126557 rs770056592 |
250 | S>P | No |
ExAC gnomAD ClinGen |
|
| TCGA novel | 250 | S>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 253 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7126558 rs774424140 |
253 | S>T | No |
ExAC gnomAD ClinGen |
|
|
rs1566620713 CA389208191 |
254 | M>I | No |
Ensembl ClinGen |
|
| TCGA novel | 264 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs759450642 CA7126559 |
268 | T>M | No |
ExAC gnomAD ClinGen |
|
|
rs1594390263 CA389208710 |
268 | T>P | No |
Ensembl ClinGen |
|
|
rs752489944 CA7126561 |
269 | Q>E | No |
ClinGen ExAC |
|
|
rs146649804 CA7126562 |
270 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1231026384 CA389208929 |
273 | S>R | No |
gnomAD ClinGen |
|
|
rs377714819 CA7126564 |
275 | L>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1292312991 CA389209052 |
275 | L>V | No |
TOPMed gnomAD ClinGen |
|
|
rs964289527 CA257866202 |
277 | R>K | No |
ClinGen TOPMed gnomAD |
|
|
rs964289527 CA389209126 |
277 | R>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1258496904 CA389209266 |
280 | L>V | No |
ClinGen gnomAD |
|
|
rs1323828844 CA389209370 |
282 | A>D | No |
Ensembl ClinGen |
|
|
rs778464495 CA7126566 |
283 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs1594390309 CA389209444 |
284 | N>H | No |
Ensembl ClinGen |
|
|
rs749942766 CA7126567 |
285 | P>S | No |
ExAC gnomAD ClinGen |
|
|
rs1413464198 CA389209524 |
286 | R>* | No |
TOPMed ClinGen |
|
| TCGA novel | 286 | R>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs758888030 CA7126568 |
286 | R>Q | No |
ExAC gnomAD ClinGen |
|
|
CA7126569 rs780453610 |
287 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA389209653 rs551629868 |
289 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7126571 rs768949925 |
290 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs768949925 CA389209670 |
290 | V>M | No |
ExAC gnomAD ClinGen |
|
|
rs1452927917 VAR_083497 CA389209763 |
292 | R>C | decreased transcriptional activation in response to type I interferon stimulation [UniProt] | No |
TOPMed gnomAD ClinGen UniProt dbSNP |
|
CA7126573 rs769929577 |
295 | P>S | No |
ExAC gnomAD ClinGen |
|
|
CA389209915 rs1412710792 |
297 | P>S | No |
ClinGen gnomAD |
|
|
CA389209933 rs1350718013 |
298 | I>V | No |
ClinGen gnomAD |
|
|
rs200364726 CA7126575 |
301 | N>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA257866226 rs571046558 |
305 | A>D | No |
ClinGen gnomAD |
|
|
CA389210231 rs571046558 |
305 | A>V | No |
ClinGen gnomAD |
|
|
CA389210271 rs1484856778 |
307 | P>S | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 308 | G>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA257866235 rs935057971 |
310 | G>D | No |
gnomAD ClinGen |
|
|
CA7126578 rs371047710 |
311 | P>L | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA389210449 rs1201257927 |
312 | H>P | No |
ClinGen TOPMed |
|
|
rs776263874 CA7126581 |
316 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7126583 rs201942001 |
318 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA257866252 rs201942001 |
318 | E>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1371911703 CA389210925 |
325 | T>I | No |
gnomAD ClinGen |
|
|
CA7126588 rs755364562 |
326 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7126590 rs145127396 |
327 | Y>C | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs145127396 CA7126589 |
327 | Y>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA389211029 rs1424017635 |
329 | C>R | No |
ClinGen TOPMed |
|
|
CA7126639 rs137918879 |
336 | F>L | No |
ESP ExAC TOPMed ClinGen |
|
|
rs774094988 CA7126640 |
337 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7126643 rs140928070 |
342 | P>A | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
| TCGA novel | 342 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7126644 rs761199171 |
343 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA257866807 rs932407842 |
343 | P>S | No |
ClinGen TOPMed |
|
|
rs1371616001 CA389215085 |
345 | F>L | No |
ClinGen gnomAD |
|
|
rs1277880212 TCGA novel CA389215240 |
351 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
gnomAD NCI-TCGA ClinGen |
|
rs1242529996 CA389215357 |
354 | E>D | No |
gnomAD ClinGen |
|
|
CA7126647 rs762274646 |
355 | S>G | No |
ExAC gnomAD ClinGen |
|
|
CA7126648 rs765350851 |
355 | S>I | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs1274683720 CA389215424 |
357 | G>C | No |
gnomAD ClinGen |
|
|
rs750700239 CA7126649 |
358 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs758465581 CA7126650 |
359 | S>R | No |
ExAC gnomAD ClinGen |
|
|
CA7126651 rs780040956 |
359 | S>T | No |
ExAC gnomAD ClinGen |
|
|
rs150075869 CA7126652 |
360 | H>R | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA257866863 rs11555173 |
364 | N>D | No |
Ensembl ClinGen |
|
|
rs755956458 CA7126653 |
366 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA389215747 rs1192337518 |
366 | I>V | No |
gnomAD ClinGen |
|
|
CA389215830 rs1169801775 |
369 | K>E | No |
gnomAD ClinGen |
|
|
rs1486463518 CA389216127 |
372 | Q>H | No |
ClinGen gnomAD |
|
|
CA389216114 rs1201080325 |
372 | Q>L | No |
ClinGen TOPMed |
|
|
CA7126672 rs753872905 |
376 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ExAC gnomAD ClinGen NCI-TCGA |
| TCGA novel | 376 | R>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA389216333 rs1260032383 |
376 | R>Q | No |
gnomAD ClinGen |
|
|
CA7126673 rs756999147 |
377 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA389216544 rs1284111993 |
380 | E>A | No |
ClinGen TOPMed |
|
|
CA7126676 rs758079377 |
384 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA389216788 rs1164272870 |
385 | Q>E | No |
ClinGen gnomAD |
|
|
rs1364498756 CA389216893 |
387 | A>T | No |
gnomAD ClinGen |
|
|
CA7126677 rs779888120 |
387 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA389216927 rs1290580672 |
388 | A>P | No |
gnomAD ClinGen |
|
|
COSM183501 CA389216926 rs1290580672 |
388 | A>T | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
gnomAD ClinGen cosmic curated NCI-TCGA |
|
CA7126678 rs746476293 |
390 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs1316758122 CA389217174 |
392 | L>P | No |
ClinGen TOPMed |
|
|
CA389217316 rs1399276814 |
394 | V>W | No |
ClinGen TOPMed |
1 associated diseases with Q00978
[MIM: 618648]: Immunodeficiency 65 (IMD65)
An autosomal recessive immunologic disorder characterized by recurrent viral infections from early infancy. Clinical consequences are pneumonia, bronchiectasis, and septic shock. Affected individuals have lymphopenia or hypogammaglobulinemia, particularly during infection, and impaired cellular type I interferon response. Patients may have adverse response to vaccination with live attenuated vaccines. {ECO:0000269|PubMed:30143481, ECO:0000269|PubMed:30826365}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- An autosomal recessive immunologic disorder characterized by recurrent viral infections from early infancy. Clinical consequences are pneumonia, bronchiectasis, and septic shock. Affected individuals have lymphopenia or hypogammaglobulinemia, particularly during infection, and impaired cellular type I interferon response. Patients may have adverse response to vaccination with live attenuated vaccines. {ECO:0000269|PubMed:30143481, ECO:0000269|PubMed:30826365}. Note=The disease is caused by variants affecting the gene represented in this entry.
6 GO annotations of cellular component
| Name | Definition |
|---|---|
| chromatin | The ordered and organized complex of DNA, protein, and sometimes RNA, that forms the chromosome. |
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| ISGF3 complex | A transcription factor complex that consists of a Stat1-Stat2 heterodimer and the IRF9 protein. |
| 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 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. |
| 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. |
| sequence-specific double-stranded DNA binding | Binding to double-stranded DNA of a specific nucleotide composition, e.g. GC-rich DNA binding, or with a specific sequence motif or type of DNA, e.g. promotor binding or rDNA binding. |
6 GO annotations of biological process
| Name | Definition |
|---|---|
| cell surface receptor signaling pathway | The series of molecular signals initiated by activation of a receptor on the surface of a cell. The pathway begins with binding of an extracellular ligand to a cell surface receptor, or for receptors that signal in the absence of a ligand, by ligand-withdrawal or the activity of a constitutively active receptor. The pathway ends with regulation of a downstream cellular process, e.g. transcription. |
| defense response to virus | Reactions triggered in response to the presence of a virus that act to protect the cell or organism. |
| immune system process | Any process involved in the development or functioning of the immune system, an organismal system for calibrated responses to potential internal or invasive threats. |
| positive regulation of transcription by RNA polymerase II | Any process that activates or increases the frequency, rate or extent of transcription from an RNA polymerase II promoter. |
| 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 |
|---|---|---|---|---|
| Q13568 | IRF5 | Interferon regulatory factor 5 | Homo sapiens (Human) | EV |
| Q15306 | IRF4 | Interferon regulatory factor 4 | Homo sapiens (Human) | SS |
| Q14653 | IRF3 | Interferon regulatory factor 3 | Homo sapiens (Human) | EV |
| Q92985 | IRF7 | Interferon regulatory factor 7 | Homo sapiens (Human) | EV |
| Q02556 | IRF8 | Interferon regulatory factor 8 | Homo sapiens (Human) | PR |
| Q61179 | Irf9 | Interferon regulatory factor 9 | Mus musculus (Mouse) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MASGRARCTR | KLRNWVVEQV | ESGQFPGVCW | DDTAKTMFRI | PWKHAGKQDF | REDQDAAFFK |
| 70 | 80 | 90 | 100 | 110 | 120 |
| AWAIFKGKYK | EGDTGGPAVW | KTRLRCALNK | SSEFKEVPER | GRMDVAEPYK | VYQLLPPGIV |
| 130 | 140 | 150 | 160 | 170 | 180 |
| SGQPGTQKVP | SKRQHSSVSS | ERKEEEDAMQ | NCTLSPSVLQ | DSLNNEEEGA | SGGAVHSDIG |
| 190 | 200 | 210 | 220 | 230 | 240 |
| SSSSSSSPEP | QEVTDTTEAP | FQGDQRSLEF | LLPPEPDYSL | LLTFIYNGRV | VGEAQVQSLD |
| 250 | 260 | 270 | 280 | 290 | 300 |
| CRLVAEPSGS | ESSMEQVLFP | KPGPLEPTQR | LLSQLERGIL | VASNPRGLFV | QRLCPIPISW |
| 310 | 320 | 330 | 340 | 350 | 360 |
| NAPQAPPGPG | PHLLPSNECV | ELFRTAYFCR | DLVRYFQGLG | PPPKFQVTLN | FWEESHGSSH |
| 370 | 380 | 390 | |||
| TPQNLITVKM | EQAFARYLLE | QTPEQQAAIL | SLV |