O43707
SS
Gene name |
ACTN4 |
Protein name |
Alpha-actinin-4 |
Names |
Non-muscle alpha-actinin 4 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:81 |
EC number |
|
Protein Class |
|
Descriptions
ACTN2 is a major F-actin cross-linking protein in both muscle and non-muscle cells and a major multivalent platform mediating interactions with many cytoskeletal or regulatory proteins. An interaction between the C-terminal region of ACTN2 and the Z-repeat motifs of Titin protein targets ACTN2 to the Z-disk. Full-length ACTN2 does not bind Z-repeats. ACTN2 has a region that acts as a pseudo-Z-repeat between the actin-binding domain (ABD) and the spectrin-like repeats (R1), and this region prevents ACTN2 from binding to the Z-repeat of Titin protein. This autoinhibition is relieved upon binding of the Z-disk lipid phosphatidylinositol-bisphosphate to the ABD of ACTN2.
Autoinhibitory domains (AIDs)
Target domain |
759-911 (EF-hand domain) |
Relief mechanism |
Ligand binding |
Assay |
|
Accessory elements
No accessory elements
References
548 variants for O43707
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
RCV001328112 CA9417170 RCV001370037 RCV002537717 rs572451257 |
22 | A>V | Nephrotic syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001329330 rs1968240092 VAR_079797 |
59 | W>R | Focal segmental glomerulosclerosis 1 FSGS1 [ClinVar, UniProt] | Yes |
ClinVar dbSNP UniProt |
|
CA405685092 RCV001195748 rs1478339393 |
64 | L>V | Focal segmental glomerulosclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
| VAR_079798 | 72 | E>Q | FSGS1 [UniProt] | Yes | UniProt |
|
RCV001029934 CA9417206 rs759055242 |
79 | R>Q | Variant assessed as Somatic; 0.0 impact. Focal segmental glomerulosclerosis 1 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA dbSNP gnomAD |
| VAR_079799 | 153 | F>L | FSGS1; unknown pathological significance [UniProt] | Yes | UniProt |
|
RCV000735729 rs1568723797 CA405689858 |
153 | F>S | Focal segmental glomerulosclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000722653 RCV002477674 rs754477143 RCV002535037 CA308130382 |
166 | K>R | Focal segmental glomerulosclerosis 1 Inborn genetic diseases [ClinVar] | Yes |
TOPMed ClinGen ClinVar dbSNP |
|
RCV000735654 rs1568725026 |
171 | L>missing | Focal segmental glomerulosclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000253054 RCV001514252 RCV002253329 rs149027682 RCV002294160 CA9417301 |
179 | P>L | Focal segmental glomerulosclerosis 1 [ClinVar] | Yes |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen ClinVar dbSNP |
|
RCV000224984 CA10581475 rs878853159 |
195 | G>D | Focal segmental glomerulosclerosis 1 Focal segmental glomerulosclerosis 1 (fsgs1) [ClinVar, Ensembl] | Yes |
Ensembl ClinGen ClinVar dbSNP |
|
CA405696096 RCV000490712 RCV001755729 rs1114167420 |
240 | M>T | Focal segmental glomerulosclerosis 1 [ClinVar] | Yes |
Ensembl ClinGen ClinVar dbSNP |
|
RCV001385888 rs121908415 RCV000005753 VAR_010378 |
255 | K>E | Focal segmental glomerulosclerosis 1 Focal segmental glomerulosclerosis 1 (fsgs1) FSGS1; no effect on protein abundance; no effect on homodimerization; loss of localization to the nucleus; prevents nuclear localization of the wild-type protein; decreased interaction with PPARG and RARA; loss of transcriptional coactivator activity; dominant negative effect on nuclear receptors-mediated transcription; increased actin-binding affinity [ClinVar, Ensembl, UniProt] | Yes |
ClinVar UniProt dbSNP TOPMed |
|
VAR_010379 rs121908416 RCV000991481 RCV000005754 |
259 | T>I | Focal segmental glomerulosclerosis 1 (fsgs1) Focal segmental glomerulosclerosis 1 FSGS1; no effect on protein abundance; no effect on homodimerization; loss of localization to the nucleus; prevents nuclear localization of the wild-type protein; decreased interaction with PPARG and RARA; loss of transcriptional coactivator activity; dominant negative effect on nuclear receptors-mediated transcription; increased actin-binding affinity [Ensembl, ClinVar, UniProt] | Yes |
Ensembl ClinVar UniProt dbSNP |
| VAR_072115 | 262 | S>F | FSGS1 [UniProt] | Yes | UniProt |
|
VAR_010380 RCV000005755 rs121908417 |
262 | S>P | Focal segmental glomerulosclerosis 1 Focal segmental glomerulosclerosis 1 (fsgs1) FSGS1; no effect on protein abundance; no effect on homodimerization; loss of localization to the nucleus; prevents nuclear localization of the wild-type protein; decreased interaction with PPARG and RARA; loss of transcriptional coactivator activity; dominant negative effect on nuclear receptors-mediated transcription; increased actin-binding affinity [ClinVar, Ensembl, UniProt] | Yes |
ClinVar UniProt dbSNP Ensembl |
|
RCV000786904 rs779765397 CA9417460 RCV002535745 |
278 | A>T | Focal segmental glomerulosclerosis 1 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001258270 CA9417495 RCV002253330 rs112545413 RCV000710417 RCV002294161 RCV000242813 VAR_079800 |
310 | R>Q | Focal segmental glomerulosclerosis 1 Intellectual disability, autosomal dominant 14 FSGS1; unknown pathological significance [ClinVar, UniProt] | Yes |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen ClinVar UniProt dbSNP |
|
RCV002483935 rs756003995 CA9417494 RCV001171359 |
310 | R>W | Focal segmental glomerulosclerosis 1 [ClinVar] | Yes |
ExAC TOPMed gnomAD ClinGen ClinVar dbSNP |
|
rs201128110 CA9417563 RCV000735721 RCV002294377 VAR_072116 RCV002225721 |
427 | A>T | Focal segmental glomerulosclerosis 1 FSGS1 [ClinVar, UniProt] | Yes |
ESP ExAC TOPMed gnomAD ClinGen ClinVar UniProt dbSNP |
|
rs1388506902 CA405694674 RCV001336750 |
536 | R>H | Focal segmental glomerulosclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA9417789 RCV001029837 rs777000965 |
609 | N>S | Focal segmental glomerulosclerosis 1 [ClinVar] | Yes |
ExAC gnomAD ClinGen ClinVar dbSNP |
|
CA9417792 rs564122319 RCV002493736 RCV001337921 |
614 | V>I | Focal segmental glomerulosclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs368256210 RCV000517416 RCV001851421 RCV002476035 CA9417797 |
623 | W>L | Focal segmental glomerulosclerosis 1 [ClinVar] | Yes |
ESP ExAC TOPMed gnomAD ClinGen ClinVar dbSNP |
| VAR_072117 | 748 | N>D | FSGS1 [UniProt] | Yes | UniProt |
|
VAR_072124 rs141727248 RCV000252414 RCV002253324 RCV001573663 RCV002294156 |
801 | V>M | Focal segmental glomerulosclerosis 1 [ClinVar] | Yes |
ClinVar UniProt dbSNP 1000Genomes ESP ExAC TOPMed gnomAD |
|
RCV002488920 CA9418125 rs148628123 RCV000428929 |
881 | A>T | Focal segmental glomerulosclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002253326 RCV002294158 CA308125813 rs113969422 CA9418132 RCV000253544 RCV000959550 |
890 | D>E | Focal segmental glomerulosclerosis 1 [ClinVar] | Yes |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen ClinVar dbSNP |
|
rs1599749535 CA405713232 |
5 | H>D | No |
Ensembl ClinGen |
|
|
rs762788580 CA9417161 |
5 | H>Q | No |
ExAC gnomAD ClinGen |
|
|
rs1450919982 CA405713235 |
5 | H>R | No |
gnomAD ClinGen |
|
|
CA405713243 rs1270704151 |
6 | A>V | No |
gnomAD ClinGen |
|
|
CA9417162 rs764029233 |
9 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA405713285 rs1476421189 |
12 | Q>H | No |
gnomAD ClinGen |
|
|
CA405713283 rs1424679106 |
12 | Q>L | No |
ClinGen gnomAD |
|
|
rs751141233 CA9417163 |
13 | Y>H | No |
ExAC gnomAD ClinGen |
|
|
rs1390151911 CA405713297 |
14 | G>D | No |
ClinGen gnomAD |
|
|
rs1466830263 CA405713294 |
14 | G>S | No |
ClinGen TOPMed |
|
|
rs866140319 CA308128820 |
15 | P>H | No |
gnomAD ClinGen |
|
|
rs866140319 CA405713304 |
15 | P>L | No |
gnomAD ClinGen |
|
|
CA405713320 rs1599749619 |
17 | S>R | No |
Ensembl ClinGen |
|
|
CA405713322 rs756999888 |
18 | A>S | No |
ExAC gnomAD ClinGen |
|
|
rs756999888 CA9417164 |
18 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs766921770 CA9417165 |
18 | A>V | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs372129305 CA9417166 |
19 | G>C | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs541285079 CA9417167 |
20 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9417168 rs779348202 |
21 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1245134349 CA405713342 |
22 | A>T | No |
TOPMed ClinGen |
|
|
CA9417171 rs778269534 |
24 | G>A | No |
ExAC gnomAD ClinGen |
|
|
rs1483429816 CA405713369 |
26 | G>D | No |
TOPMed ClinGen |
|
|
rs998300210 CA308128868 |
27 | S>G | No |
ClinGen TOPMed |
|
|
rs1029739250 CA405713373 |
27 | S>I | No |
TOPMed ClinGen |
|
|
rs1029739250 CA308128872 |
27 | S>N | No |
ClinGen TOPMed |
|
|
CA9417172 rs747188715 |
28 | M>V | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs1448918842 CA405713396 |
29 | G>D | No |
ClinGen gnomAD |
|
|
CA9417173 rs771131095 |
29 | G>S | No |
ExAC gnomAD ClinGen |
|
|
rs776722855 CA9417174 |
30 | D>N | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA9417175 rs745921454 |
31 | Y>C | No |
ClinGen ExAC |
|
|
CA9417176 rs770018559 |
34 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs1244533525 CA405713684 |
46 | P>L | No |
TOPMed ClinGen |
|
|
rs775546978 CA9417177 |
46 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1356676348 CA405713768 |
50 | K>R | No |
ClinGen TOPMed |
|
|
rs763023552 CA9417178 |
53 | R>L | No |
ExAC gnomAD ClinGen |
|
| TCGA novel | 54 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 55 | T>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9417197 rs768656011 RCV002537620 RCV001261429 |
57 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ExAC TOPMed gnomAD ClinGen ClinVar NCI-TCGA dbSNP |
|
rs1010342401 CA308126849 |
61 | N>S | No |
Ensembl ClinGen |
|
|
CA405685115 rs1307627747 |
65 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
gnomAD ClinGen NCI-TCGA |
|
CA9417202 rs146499679 |
71 | I>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA405685449 rs1324483523 |
74 | I>T | No |
ClinGen gnomAD |
|
|
rs1205829234 CA405685561 |
77 | D>H | No |
ClinGen gnomAD |
|
|
CA405685741 rs1198648412 |
84 | L>V | No |
ClinGen gnomAD |
|
|
rs550398621 RCV001315506 CA9417209 |
86 | L>V | No |
1000Genomes ExAC gnomAD ClinGen ClinVar dbSNP |
|
|
CA405685855 rs1178163492 |
87 | L>F | No |
ClinGen gnomAD |
|
|
rs1298670306 CA405686014 |
93 | G>R | No |
ClinGen gnomAD |
|
|
CA9417234 rs778896506 |
94 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA405686276 rs1253941922 |
95 | R>P | No |
TOPMed ClinGen |
|
|
rs771850037 COSM1393444 CA9417236 |
95 | R>W | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA308127200 rs200919223 |
99 | P>L | No |
Ensembl ClinGen |
|
|
CA9417239 rs138769040 |
101 | R>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1426283378 CA405686421 |
101 | R>W | No |
gnomAD ClinGen |
|
| rs1568719056 | 103 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs915840495 CA308127215 |
105 | R>K | No |
TOPMed ClinGen |
|
|
CA308127224 rs1026877719 |
113 | N>S | No |
Ensembl ClinGen |
|
|
RCV001337356 rs1968257465 |
115 | A>T | No |
ClinVar dbSNP |
|
|
CA405686891 rs1377064169 |
115 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 118 | F>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs368384089 CA9417244 |
118 | F>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 120 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1285681878 CA405687060 |
120 | A>T | No |
gnomAD ClinGen |
|
|
CA308127243 rs951386376 |
120 | A>V | No |
TOPMed ClinGen |
|
|
CA308127249 rs1046044885 |
122 | K>N | No |
TOPMed ClinGen |
|
|
CA405687140 rs1216058614 |
124 | V>I | No |
TOPMed gnomAD ClinGen |
|
|
rs146287869 CA9417246 |
125 | K>R | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA9417247 rs761068296 |
129 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 133 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9417273 rs375921941 COSM188846 |
137 | G>S | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ESP ExAC TOPMed gnomAD ClinGen cosmic curated NCI-TCGA |
|
rs1568723743 CA405689458 |
139 | A>G | No |
ClinGen Ensembl |
|
|
rs1200412339 CA405689445 |
139 | A>T | No |
TOPMed gnomAD ClinGen |
|
|
rs1476870804 CA405689570 |
144 | G>R | No |
gnomAD ClinGen |
|
|
rs1420356916 CA405689739 |
149 | I>V | No |
ClinGen gnomAD |
|
| TCGA novel | 154 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA308129658 rs745581636 |
157 | D>E | No |
ExAC TOPMed gnomAD ClinGen |
|
| TCGA novel | 164 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA405691121 rs1383573246 |
175 | R>G | No |
ClinGen gnomAD |
|
|
rs149027682 CA9417302 |
179 | P>Q | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA405691281 COSM439432 rs149027682 |
179 | P>R | breast [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1228110457 CA405691271 |
179 | P>T | No |
ClinGen TOPMed |
|
|
CA308130416 rs994626689 |
180 | Y>C | No |
ClinGen TOPMed |
|
|
CA308130417 rs1020179411 |
181 | K>E | No |
Ensembl ClinGen |
|
|
CA9417305 rs571812757 |
183 | V>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA405691418 rs571812757 |
183 | V>L | No |
1000Genomes ExAC TOPMed gnomAD ClinGen |
|
|
CA9417306 rs202126611 |
184 | N>S | No |
1000Genomes ExAC TOPMed gnomAD ClinGen |
|
| TCGA novel | 195 | G>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9417325 rs771095541 |
204 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs915950010 CA308131513 |
204 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs201844915 CA308131522 |
209 | L>V | No |
Ensembl ClinGen |
|
|
CA405693509 rs1208012770 |
211 | E>D | No |
TOPMed ClinGen |
|
|
CA405693504 rs1173830876 |
211 | E>V | No |
gnomAD ClinGen |
|
|
CA405693622 rs1599832681 |
216 | R>W | No |
ClinGen Ensembl |
|
|
CA405695034 rs575966776 |
218 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA405695019 rs1293443129 |
218 | D>G | No |
gnomAD ClinGen |
|
|
CA405695093 rs1228776619 |
219 | D>H | No |
TOPMed gnomAD ClinGen |
|
|
CA405695091 rs1228776619 |
219 | D>N | No |
TOPMed gnomAD ClinGen |
|
|
rs1033018062 CA308132347 |
222 | T>S | No |
TOPMed gnomAD ClinGen |
|
|
rs1968567859 RCV001340423 |
225 | N>K | No |
ClinVar dbSNP |
|
|
CA405695311 rs1432259087 |
225 | N>S | No |
ClinGen TOPMed |
|
|
CA9417356 rs762661647 |
226 | N>S | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA405695447 rs763051766 |
229 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
TOPMed ClinGen NCI-TCGA |
|
rs763051766 CA308132360 |
229 | E>Q | No |
ClinGen TOPMed |
|
|
CA405695717 rs1599834798 |
234 | Y>S | No |
Ensembl ClinGen |
|
|
CA308132387 rs999373899 |
235 | L>I | No |
ClinGen gnomAD |
|
| TCGA novel | 246 | I>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs34491236 RCV000434975 |
246 | I>M | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinVar dbSNP |
|
| rs745905696 | 247 | V>M | No |
ExAC gnomAD |
|
| rs561181666 | 251 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ExAC gnomAD NCI-TCGA |
| rs898478281 | 251 | R>W | No | gnomAD | |
| rs781479830 | 253 | D>N | No | gnomAD | |
| rs1004686336 | 254 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
TOPMed gnomAD NCI-TCGA |
| rs373971998 | 257 | I>V | No |
ESP ExAC TOPMed gnomAD |
|
| rs1599836074 | 259 | T>P | No | Ensembl | |
| TCGA novel | 266 | H>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1568729634 | 267 | A>G | No | Ensembl | |
| TCGA novel | 268 | F>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 269 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1013711568 | 271 | A>V | No |
TOPMed gnomAD |
|
| rs1175215252 | 272 | Q>R | No | gnomAD | |
|
CA405700745 rs1285757011 |
274 | A>V | No |
ClinGen gnomAD |
|
| TCGA novel | 278 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs772640514 CA9417462 |
279 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs748817377 CA9417461 |
279 | N>S | No |
ExAC TOPMed gnomAD ClinGen |
|
| TCGA novel | 280 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs760897447 CA9417464 |
281 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA9417467 rs370529230 |
286 | A>T | No |
ESP ExAC TOPMed ClinGen |
|
|
CA308135154 rs374345646 |
288 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9417468 rs374345646 |
288 | N>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1425695707 CA405700960 |
290 | E>D | No |
ClinGen TOPMed |
|
|
CA9417469 rs200355599 |
290 | E>K | No |
1000Genomes ExAC gnomAD ClinGen |
|
|
CA308135166 rs777311779 |
293 | H>Q | No |
TOPMed ClinGen |
|
|
CA405701020 rs1458395941 |
294 | L>R | No |
ClinGen gnomAD |
|
|
CA9417471 rs763975122 |
296 | E>G | No |
ExAC gnomAD ClinGen |
|
| TCGA novel | 302 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1335861068 CA405701210 |
303 | S>T | No |
gnomAD ClinGen |
|
|
CA405701255 rs1289292396 |
304 | D>E | No |
TOPMed gnomAD ClinGen |
|
|
rs1238584452 CA405701243 |
304 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA405702126 rs1483795091 |
305 | L>F | No |
gnomAD ClinGen |
|
|
CA405702226 rs1178103660 |
311 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs559700598 CA9417496 |
311 | R>H | Variant assessed as Somatic; 4.67e-05 impact. [NCI-TCGA] | No |
ExAC TOPMed gnomAD ClinGen NCI-TCGA |
| TCGA novel | 311 | R>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA405702238 rs1599845558 |
312 | T>P | No |
ClinGen Ensembl |
|
|
rs267605467 CA308135966 |
314 | P>S | No |
Ensembl ClinGen |
|
|
CA405702384 rs1368362182 |
319 | R>H | No |
gnomAD ClinGen |
|
| TCGA novel | 322 | Q>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1326318461 CA405702433 |
322 | Q>R | No |
gnomAD ClinGen |
|
| TCGA novel | 325 | I>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1599845636 CA405702551 |
327 | E>A | No |
Ensembl ClinGen |
|
|
rs774429535 CA9417507 |
336 | R>C | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA9417509 rs767446241 |
337 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1314016062 CA405702740 |
337 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
COSM1181736 CA308135990 rs974806018 |
339 | R>W | large_intestine [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs760523958 CA9417511 |
340 | R>C | No |
ExAC gnomAD ClinGen |
|
|
rs1241712861 CA405702836 |
341 | V>A | No |
ClinGen TOPMed |
|
|
rs766315573 CA9417512 COSM1393446 |
344 | P>L | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA405702964 rs1599845716 |
347 | V>G | No |
Ensembl ClinGen |
|
|
CA308136003 rs575151706 |
356 | N>S | No |
gnomAD ClinGen |
|
|
rs754620971 CA9417514 |
357 | F>C | No |
ClinGen ExAC gnomAD |
|
|
CA405703207 rs1214407317 |
357 | F>L | No |
ClinGen gnomAD |
|
|
CA308136012 rs976930584 |
363 | K>R | No |
ClinGen TOPMed |
|
|
CA9417516 COSM3822983 rs752211925 |
365 | R>C | Variant assessed as Somatic; 9.24e-05 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs781711805 CA9417518 |
366 | L>F | No |
ExAC gnomAD ClinGen |
|
|
CA405703482 rs1252156542 |
368 | N>Y | No |
ClinGen TOPMed |
|
|
CA405703508 rs1568736737 |
369 | R>Q | No |
Ensembl ClinGen |
|
|
CA405703513 rs1357492399 |
370 | P>T | No |
ClinGen TOPMed |
|
|
rs930283839 CA308136030 |
371 | A>D | No |
ClinGen TOPMed gnomAD |
|
|
CA9417521 rs147553733 |
371 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs112568603 CA308136035 |
373 | M>I | No |
Ensembl ClinGen |
|
|
CA308136040 rs984771969 |
376 | E>K | No |
TOPMed ClinGen |
|
|
rs1249878077 CA405703732 |
378 | K>E | No |
ClinGen gnomAD |
|
|
rs779031271 CA9417524 |
381 | S>L | No |
ClinGen ExAC gnomAD |
|
|
rs755318100 CA9417543 |
383 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs779173708 CA9417544 |
385 | N>S | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA405704166 rs1279291145 |
387 | W>* | No |
gnomAD ClinGen |
|
|
CA405704186 rs1313713766 |
388 | Q>R | No |
ClinGen gnomAD |
|
|
CA9417546 rs772186055 |
389 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
CA9417545 rs748358981 |
389 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9417548 rs143174736 |
392 | Q>E | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA9417549 rs374458190 |
393 | A>T | No |
ExAC gnomAD ClinGen |
|
|
CA405704434 rs1371576343 |
398 | E>D | No |
gnomAD ClinGen |
|
|
CA9417551 rs759384679 |
398 | E>K | No |
ExAC gnomAD ClinGen |
|
|
CA308136311 rs988264051 |
399 | E>K | No |
TOPMed ClinGen |
|
|
rs78679563 CA9417552 |
402 | L>V | No |
ExAC gnomAD ClinGen |
|
|
rs368725797 CA9417553 |
406 | R>C | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
| TCGA novel | 406 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs762573515 CA9417554 |
406 | R>L | No |
ExAC gnomAD ClinGen |
|
|
rs1212741857 CA405704604 |
407 | R>S | No |
gnomAD ClinGen |
|
|
CA405704625 rs1273575948 |
409 | E>K | No |
gnomAD ClinGen |
|
|
CA405704655 rs1207553410 |
410 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs751000446 CA9417556 |
410 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs766819959 CA9417558 |
412 | D>A | No |
ClinGen ExAC gnomAD |
|
|
rs754390440 CA9417559 |
412 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9417557 rs761342349 |
412 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA405704698 rs1474682610 |
413 | H>N | No |
ClinGen gnomAD |
|
|
CA308136344 rs202151136 |
414 | L>P | No |
Ensembl ClinGen |
|
| TCGA novel | 418 | F>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1452788789 CA405704812 |
418 | F>L | No |
ClinGen TOPMed |
|
|
CA405704819 rs1451759321 |
419 | R>Q | No |
gnomAD ClinGen |
|
| TCGA novel | 423 | S>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1170068378 CA405704894 |
423 | S>P | No |
TOPMed gnomAD ClinGen |
|
|
rs1170068378 CA405704891 |
423 | S>T | No |
ClinGen TOPMed gnomAD |
|
|
CA405704948 rs779211830 |
425 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752949932 CA9417562 |
426 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA405704979 rs1466886597 |
427 | A>V | No |
TOPMed gnomAD ClinGen |
|
| TCGA novel | 430 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA405705028 rs1186360472 |
430 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
TOPMed ClinGen NCI-TCGA |
|
CA9417565 rs747039049 |
431 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs751821067 CA9417604 |
432 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs1349928854 CA405687816 |
435 | M>T | No |
ClinGen TOPMed |
|
|
rs376694630 CA9417606 |
439 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs757500483 CA9417605 |
439 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA405687932 rs1352378241 |
440 | D>E | No |
gnomAD ClinGen |
|
|
CA405687953 rs750426834 |
441 | Y>C | No |
ExAC gnomAD ClinGen |
|
|
CA9417607 rs750426834 |
441 | Y>S | No |
ClinGen ExAC gnomAD |
|
|
rs138868674 CA9417609 |
442 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs753850428 CA9417610 |
443 | T>M | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA9417612 rs778736414 |
444 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs1400515936 CA405688086 |
446 | L>P | No |
ClinGen TOPMed |
|
|
RCV001323824 rs140271107 CA9417616 |
447 | S>L | No |
1000Genomes ExAC TOPMed gnomAD ClinGen ClinVar dbSNP |
|
|
rs775858826 CA9417618 |
448 | D>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763615967 CA9417619 |
449 | I>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA308117911 rs763615967 |
449 | I>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA405688209 rs1448687566 |
453 | I>M | No |
gnomAD ClinGen |
|
|
rs1372587096 CA405688283 |
457 | E>K | No |
TOPMed gnomAD ClinGen |
|
|
CA405688368 rs754159018 |
459 | F>L | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA9417623 COSM996128 rs767795519 |
460 | E>K | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ExAC gnomAD ClinGen cosmic curated NCI-TCGA |
|
rs1599852875 CA405688442 |
462 | D>A | No |
Ensembl ClinGen |
|
|
CA9417625 rs760636941 |
462 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs1364900733 CA405688505 |
464 | A>V | No |
gnomAD ClinGen |
|
|
rs753703237 CA9417627 |
465 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1599852909 CA405688569 |
466 | H>P | No |
Ensembl ClinGen |
|
|
CA9417630 rs752441330 |
469 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ExAC gnomAD ClinGen NCI-TCGA |
|
CA405688643 rs1264331949 |
469 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
rs369701421 CA9417632 |
470 | V>M | No |
ExAC ClinGen |
|
|
rs867651547 CA308117974 |
471 | E>K | No |
ClinGen gnomAD |
|
|
CA405689916 rs1464402991 |
474 | A>T | No |
ClinGen gnomAD |
|
|
CA405690445 rs1429512562 |
474 | A>V | No |
ClinGen TOPMed |
|
|
CA308117991 rs201279145 |
475 | A>T | No |
1000Genomes TOPMed gnomAD ClinGen |
|
|
rs1184503433 CA405692791 |
482 | E>K | No |
ClinGen gnomAD |
|
|
CA405692796 rs1184503433 |
482 | E>Q | No |
ClinGen gnomAD |
|
|
CA405692870 rs1225837894 |
484 | D>N | No |
TOPMed gnomAD ClinGen |
|
|
rs1225837894 CA405692875 |
484 | D>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs1216563661 CA405693019 |
486 | Y>C | No |
gnomAD ClinGen |
|
|
CA405693006 rs1343056778 |
486 | Y>H | No |
ClinGen gnomAD |
|
|
CA405693031 rs1451150160 |
487 | D>N | No |
gnomAD ClinGen |
|
|
rs746148734 CA9417680 |
489 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9417681 rs770017988 |
490 | N>D | No |
ExAC gnomAD ClinGen |
|
|
CA9417682 rs556555602 |
490 | N>S | No |
1000Genomes ExAC TOPMed gnomAD ClinGen |
|
|
CA405693194 rs1475531948 |
492 | N>H | No |
ClinGen gnomAD |
|
|
CA9417686 rs369886738 |
494 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs148781306 CA9417685 RCV001261428 |
494 | R>W | No |
ESP ExAC gnomAD ClinGen ClinVar dbSNP |
|
|
CA9417687 rs144831680 |
497 | K>T | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA405693513 rs1319575908 |
501 | Q>* | No |
gnomAD ClinGen |
|
|
rs1433117986 CA405693602 |
504 | A>T | No |
TOPMed gnomAD ClinGen |
|
|
CA405693619 rs1282695037 |
504 | A>V | No |
gnomAD ClinGen |
|
|
CA405693656 rs1462357411 |
505 | L>F | No |
ClinGen TOPMed |
|
|
CA405693665 rs1599856308 |
505 | L>R | No |
ClinGen Ensembl |
|
|
rs753348354 CA9417691 |
506 | G>S | No |
ExAC TOPMed gnomAD ClinGen |
|
| TCGA novel | 506 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1280650958 CA405693717 |
507 | S>F | No |
TOPMed ClinGen |
|
|
CA405693706 rs1327635060 |
507 | S>T | No |
gnomAD ClinGen |
|
|
CA405693791 rs1215605858 |
510 | H>R | No |
ClinGen TOPMed |
|
|
CA308119521 rs971205250 |
510 | H>Y | No |
Ensembl ClinGen |
|
|
rs778312331 CA9417693 |
512 | R>C | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA9417694 rs752074337 |
512 | R>H | No |
ExAC gnomAD ClinGen |
|
|
CA9417695 rs752074337 |
512 | R>L | No |
ClinGen ExAC gnomAD |
|
|
rs1235334766 CA405693845 |
513 | R>G | No |
gnomAD ClinGen |
|
|
rs1282495634 CA405693871 |
514 | E>K | No |
TOPMed ClinGen |
|
| rs1274615294 | 521 | K>A | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 524 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9417721 rs768765128 |
526 | I>T | No |
ExAC gnomAD ClinGen |
|
|
rs748261969 CA405694369 |
527 | D>H | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs748261969 CA9417723 |
527 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA405694489 rs1432971651 |
530 | H>L | No |
ClinGen TOPMed |
|
|
rs773303919 CA9417725 |
532 | E>Q | No |
ExAC gnomAD ClinGen |
|
|
rs1265692291 CA405694592 |
534 | A>T | No |
TOPMed ClinGen |
|
|
CA9417726 rs372902386 |
536 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA gnomAD |
|
rs372902386 CA308119776 |
536 | R>S | No |
ClinGen ESP ExAC gnomAD |
|
| TCGA novel | 537 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs776334675 CA9417728 |
537 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1486868317 CA405694726 |
538 | A>V | No |
TOPMed ClinGen |
|
|
rs778403713 CA308119797 |
544 | M>T | No |
ClinGen Ensembl |
|
|
rs1372390160 CA405695130 |
546 | S>N | No |
gnomAD ClinGen |
|
|
CA9417732 RCV001346144 rs762475438 |
547 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs922107679 CA308119798 |
547 | A>V | No |
ClinGen Ensembl |
|
|
CA308119802 rs879003954 |
548 | M>T | No |
gnomAD ClinGen |
|
| TCGA novel | 553 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 556 | I>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA405695531 rs1340918440 |
557 | V>I | No |
gnomAD ClinGen |
|
|
CA405695620 rs1252241652 |
558 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
CA9417734 rs750972461 |
559 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 559 | T>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA405695688 rs1383689475 |
560 | I>V | No |
ClinGen gnomAD |
|
|
rs1568745157 CA405695729 |
561 | E>G | No |
Ensembl ClinGen |
|
|
CA9417737 rs200829552 |
561 | E>K | No |
1000Genomes ExAC TOPMed gnomAD ClinGen |
|
|
CA9417758 rs753008254 |
565 | G>D | No |
ExAC gnomAD ClinGen |
|
|
rs1286433993 CA405696189 |
566 | L>Q | No |
ClinGen gnomAD |
|
|
rs1216159494 CA405696319 |
569 | A>V | No |
ClinGen gnomAD |
|
|
rs1262285587 CA405696321 |
570 | H>Y | No |
ClinGen gnomAD |
|
|
CA9417760 rs367745869 |
571 | D>G | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs999914810 CA308119973 |
572 | Q>H | No |
TOPMed ClinGen |
|
|
CA9417763 rs781208908 |
576 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs1031037100 CA308120015 COSM1494280 |
578 | P>L | kidney Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
| TCGA novel | 578 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs773787763 CA405696824 |
581 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9417768 rs768314562 |
581 | D>N | No |
ExAC gnomAD ClinGen |
|
|
rs376144793 CA9417771 |
584 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs777245485 CA9417772 |
584 | R>H | No |
ExAC gnomAD ClinGen |
|
|
rs759789993 CA9417773 |
585 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ExAC TOPMed gnomAD ClinGen NCI-TCGA |
|
CA9417774 rs765699518 |
586 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA9417775 rs576448550 |
587 | I>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1599857525 CA405697064 |
588 | L>R | No |
ClinGen Ensembl |
|
|
rs964691290 CA308120089 |
590 | I>N | No |
ClinGen TOPMed gnomAD |
|
|
CA308120086 rs865815931 |
590 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs751639072 CA9417778 |
594 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs780958051 CA405697465 |
597 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9417779 rs757405069 |
597 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA405697469 rs750438589 COSM1750874 |
598 | A>P | urinary_tract [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs750438589 CA9417781 |
598 | A>S | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs750438589 CA9417782 |
598 | A>T | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA9417783 rs779771134 |
600 | S>N | No |
ExAC gnomAD ClinGen |
|
|
CA308120111 rs928323358 |
600 | S>R | No |
Ensembl ClinGen |
|
|
CA9417785 rs768261237 |
603 | I>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9417787 rs747590691 |
606 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs983048229 CA308120153 |
607 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
CA9417791 rs770206677 |
612 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs1599857658 CA405697960 |
613 | T>P | No |
ClinGen Ensembl |
|
|
rs1316738834 CA405698041 |
615 | T>S | No |
TOPMed ClinGen |
|
|
rs763430701 CA9417793 |
616 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ExAC TOPMed gnomAD ClinGen NCI-TCGA |
|
rs1207220190 CA405698050 |
616 | P>S | No |
gnomAD ClinGen |
|
|
CA405698085 rs1194593558 |
618 | I>V | No |
gnomAD ClinGen |
|
|
rs1412176228 CA405698140 |
620 | N>S | No |
ClinGen TOPMed |
|
|
rs1397859742 CA405698154 |
621 | S>P | No |
ClinGen TOPMed |
|
|
rs750486023 CA9417798 |
624 | E>G | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs756865484 CA9417826 |
626 | V>M | No |
ExAC gnomAD ClinGen |
|
|
CA9417827 rs780698414 |
627 | Q>L | No |
ExAC gnomAD ClinGen |
|
|
rs1468539433 CA405698456 |
630 | V>L | No |
ClinGen gnomAD |
|
|
CA405698470 rs1157769270 |
631 | P>S | No |
ClinGen gnomAD |
|
|
CA405698489 rs769295669 |
632 | K>E | No |
ExAC TOPMed ClinGen |
|
|
CA9417829 rs769295669 |
632 | K>Q | No |
ClinGen ExAC TOPMed |
|
|
rs748496051 CA9417832 |
635 | H>D | No |
ExAC gnomAD ClinGen |
|
|
CA405698573 rs1375091805 |
635 | H>R | No |
ClinGen gnomAD |
|
|
CA9417831 rs748496051 |
635 | H>Y | No |
ExAC gnomAD ClinGen |
|
|
rs900312681 CA308120353 |
636 | A>S | No |
TOPMed ClinGen |
|
| TCGA novel | 639 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA405698746 rs773357692 |
641 | Q>H | No |
ExAC TOPMed gnomAD ClinGen |
|
| TCGA novel | 641 | Q>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1343453434 CA405698761 |
642 | S>N | No |
ClinGen TOPMed |
|
|
CA405698872 rs1353344072 |
645 | Q>E | No |
gnomAD ClinGen |
|
|
rs145636219 CA9417835 |
646 | S>C | No |
ClinGen ESP ExAC gnomAD |
|
|
rs776537961 CA9417836 |
648 | E>K | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA405698993 rs1385448134 |
649 | H>D | No |
ClinGen TOPMed |
|
|
rs1210892780 CA405698998 |
649 | H>P | No |
ClinGen gnomAD |
|
|
rs1259022812 CA405699056 |
651 | R>H | No |
ClinGen gnomAD |
|
|
CA9417837 rs759411096 |
652 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ExAC TOPMed gnomAD ClinGen NCI-TCGA |
|
rs1181047009 CA405699073 |
652 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA9417838 rs765190661 |
653 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs752487743 CA9417839 |
654 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758175736 CA9417840 |
655 | A>P | No |
ExAC gnomAD ClinGen |
|
|
CA405699243 rs1394630659 |
656 | S>R | No |
ClinGen gnomAD |
|
|
CA405699342 rs1435582633 |
659 | N>S | No |
ClinGen gnomAD |
|
|
rs1394512098 CA405699423 |
660 | V>A | No |
ClinGen gnomAD |
|
|
rs1217584300 CA405699394 |
660 | V>I | No |
ClinGen TOPMed |
|
|
CA405699451 rs531405161 |
661 | V>L | No |
1000Genomes ExAC TOPMed gnomAD ClinGen |
|
|
CA9417842 rs531405161 |
661 | V>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1338073001 CA405699560 |
664 | W>* | No |
gnomAD ClinGen |
|
|
CA405699690 rs1326017804 |
667 | T>I | No |
ClinGen TOPMed |
|
|
rs753213013 CA9417866 COSM324633 |
674 | R>C | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ExAC TOPMed gnomAD ClinGen cosmic curated NCI-TCGA |
|
rs758778538 CA9417867 |
674 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ExAC TOPMed gnomAD ClinGen NCI-TCGA |
|
CA405701209 rs1382246597 |
677 | I>F | No |
ClinGen TOPMed gnomAD |
|
|
CA405701208 rs1382246597 |
677 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1599860054 CA405701242 |
678 | E>G | No |
Ensembl ClinGen |
|
|
CA405701301 rs1295663002 |
681 | G>E | No |
gnomAD ClinGen |
|
|
CA9417871 rs577123101 |
685 | D>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs771091576 CA9417870 |
685 | D>N | No |
ExAC gnomAD ClinGen |
|
|
rs1231361045 CA405701355 |
685 | D>V | No |
ClinGen gnomAD |
|
|
CA308121449 rs949944891 |
692 | Q>L | No |
TOPMed ClinGen |
|
|
rs769829818 CA9417873 |
695 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA9417874 rs140627564 |
695 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1206014802 CA405701485 |
698 | V>M | No |
gnomAD ClinGen |
|
|
CA9417876 rs768638669 |
699 | D>E | No |
ExAC gnomAD ClinGen |
|
|
rs145678230 CA9417878 |
701 | K>R | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA405701525 rs1414849138 |
703 | N>K | No |
ClinGen TOPMed |
|
|
rs750143718 CA9417880 |
703 | N>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 717 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1213024698 CA405701706 |
718 | L>F | No |
TOPMed gnomAD ClinGen |
|
|
rs765865158 CA405701728 |
719 | I>M | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA308121488 rs1054232957 |
719 | I>T | No |
TOPMed ClinGen |
|
|
rs1568747969 CA405701749 |
721 | D>H | No |
Ensembl ClinGen |
|
|
CA9417885 rs764617545 |
722 | N>H | No |
ClinGen ExAC gnomAD |
|
|
rs757657905 CA9417887 |
722 | N>K | No |
ExAC gnomAD ClinGen |
|
|
rs751899053 CA9417886 |
722 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA405701789 rs1179634269 |
723 | K>N | No |
ClinGen gnomAD |
|
|
rs781387793 CA9417888 |
725 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs1599861794 CA405702873 |
733 | R>C | No |
ClinGen Ensembl |
|
|
CA405702886 rs755098237 |
734 | V>L | No |
ExAC gnomAD ClinGen |
|
|
rs755098237 CA9417928 |
734 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA9417929 rs148099235 |
735 | G>A | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs148099235 CA308122337 |
735 | G>V | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA405703007 rs1271628674 |
738 | Q>H | No |
gnomAD ClinGen |
|
|
rs1468358063 CA405703049 |
740 | L>P | No |
gnomAD ClinGen |
|
|
CA308122350 rs200658507 |
741 | T>A | No |
1000Genomes ClinGen |
|
|
rs1236380837 CA405703082 |
741 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs758371545 CA9417931 |
744 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs777789927 CA9417932 |
745 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs1184245271 CA405703152 |
745 | R>H | No |
ClinGen gnomAD |
|
|
rs1172790414 CA405703227 |
749 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
gnomAD ClinGen NCI-TCGA |
|
CA405703284 rs1568749451 |
751 | E>K | No |
Ensembl ClinGen |
|
|
CA405703369 rs1392233142 |
754 | I>V | No |
gnomAD ClinGen |
|
|
rs1599861908 CA405703424 |
756 | T>P | No |
ClinGen Ensembl |
|
|
CA405703455 rs1323978140 |
757 | R>C | No |
ClinGen gnomAD |
|
|
CA405703473 rs1207330928 |
758 | D>N | No |
TOPMed gnomAD ClinGen |
|
|
rs774937453 CA405703502 |
759 | A>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs774937453 CA9417938 |
759 | A>T | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA405703529 rs1599861951 |
760 | K>E | No |
Ensembl ClinGen |
|
|
rs1183101397 CA405703687 |
766 | Q>E | No |
ClinGen TOPMed |
|
|
rs557057679 CA9417940 |
767 | M>V | No |
1000Genomes ExAC gnomAD ClinGen |
|
|
CA405703830 rs1204248889 |
770 | F>L | No |
gnomAD ClinGen |
|
|
rs773812055 CA9417941 |
771 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1234222656 CA405703837 COSM238674 |
771 | R>W | Variant assessed as Somatic; 0.0 impact. prostate [NCI-TCGA, Cosmic] | No |
TOPMed gnomAD ClinGen cosmic curated NCI-TCGA |
|
CA9417942 rs760946329 |
772 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA405704023 rs1599862032 |
778 | D>E | No |
Ensembl ClinGen |
|
| TCGA novel | 778 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs952714063 | 781 | H>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
NCI-TCGA Ensembl |
| rs778422858 | 783 | G>R | No |
ExAC TOPMed gnomAD |
|
|
VAR_072118 rs771421233 |
784 | A>V | rare variant found in patients with IgA nephropathy; unknown pathological significance [UniProt] | No |
UniProt ExAC TOPMed dbSNP gnomAD |
| VAR_072119 | 786 | G>R | No | UniProt | |
| rs1599863714 | 787 | P>A | No | Ensembl | |
| VAR_072120 | 787 | P>L | No | UniProt | |
| VAR_072121 | 787 | P>S | No | UniProt | |
| rs1599863734 | 788 | E>A | No | Ensembl | |
| rs1237849524 | 788 | E>D | No | gnomAD | |
| TCGA novel | 788 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1599863749 | 790 | F>V | No | Ensembl | |
| rs1238632930 | 791 | K>E | No | gnomAD | |
|
rs141835608 RCV001308806 |
792 | A>T | No |
ESP ClinVar dbSNP |
|
| VAR_072122 | 793 | C>Y | rare variant found in patients with IgA nephropathy; unknown pathological significance [UniProt] | No | UniProt |
| VAR_072123 | 798 | G>D | rare variant found in patients with IgA nephropathy; unknown pathological significance [UniProt] | No | UniProt |
| rs764253245 | 800 | D>H | No |
ExAC TOPMed gnomAD |
|
| rs764253245 | 800 | D>N | No |
ExAC TOPMed gnomAD |
|
|
RCV000722578 rs1568751181 |
801 | V>M | No |
ClinVar dbSNP Ensembl |
|
| rs755892336 | 804 | D>E | No |
ExAC gnomAD |
|
| rs750429771 | 804 | D>N | No |
ExAC TOPMed gnomAD |
|
| rs753638235 | 805 | R>Q | No |
ExAC TOPMed gnomAD |
|
| rs138945157 | 805 | R>W | No |
ESP ExAC TOPMed gnomAD |
|
|
CA405705261 rs1467577164 |
807 | G>S | No |
ClinGen gnomAD |
|
|
rs1399330938 CA405705315 |
810 | E>D | No |
ClinGen gnomAD |
|
|
CA405706057 rs1447269650 |
811 | F>C | No |
gnomAD ClinGen |
|
|
rs755524840 CA9418049 |
813 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1362647366 CA405706098 |
817 | L>V | No |
TOPMed ClinGen |
|
|
CA405706125 rs1302138941 |
821 | N>T | No |
ClinGen gnomAD |
|
|
rs778018950 CA9418053 |
823 | S>G | No |
ExAC gnomAD ClinGen |
|
|
rs771066917 CA9418055 |
824 | G>S | No |
ExAC gnomAD ClinGen |
|
|
rs776619026 CA9418056 |
826 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA405706161 rs1394441917 |
827 | T>S | No |
TOPMed ClinGen |
|
|
rs147519672 CA9418058 |
832 | I>V | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs761391018 CA9418063 |
835 | M>I | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs774210864 CA9418062 |
835 | M>V | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs766882748 CA9418064 COSM3692730 |
836 | S>L | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA405706233 rs368563044 |
837 | R>P | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs368563044 COSM1393447 CA9418067 |
837 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA9418066 rs755404040 |
837 | R>W | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA405706245 rs752982119 |
839 | T>I | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs752982119 CA9418068 |
839 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777969252 CA9418070 |
842 | T>M | No |
ClinGen ExAC gnomAD |
|
|
CA405706298 rs1401214011 |
847 | Q>R | No |
TOPMed ClinGen |
|
|
rs745982264 CA9418074 |
848 | V>F | No |
ExAC gnomAD ClinGen |
|
|
CA405706313 rs775533574 |
849 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9418078 rs376869655 |
850 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed |
| TCGA novel | 853 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1489150311 CA405706337 |
853 | K>R | No |
gnomAD ClinGen |
|
|
rs1187338705 CA405706374 |
859 | K>Q | No |
TOPMed gnomAD ClinGen |
|
|
rs1218205417 CA405706463 |
860 | N>S | No |
ClinGen gnomAD |
|
|
CA405706496 rs1599868117 |
862 | I>S | No |
Ensembl ClinGen |
|
|
rs767624808 CA9418110 |
862 | I>V | No |
ExAC gnomAD ClinGen |
|
|
CA405706508 rs1271129045 |
863 | T>I | No |
ClinGen gnomAD |
|
|
CA405706512 rs1271129045 |
863 | T>K | No |
ClinGen gnomAD |
|
|
CA405706519 rs1378969805 |
864 | A>S | No |
ClinGen TOPMed |
|
|
CA405706515 rs1378969805 |
864 | A>T | No |
ClinGen TOPMed |
|
|
CA308125686 rs974205204 |
864 | A>V | No |
TOPMed ClinGen |
|
|
CA9418113 rs369988035 |
868 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9418112 rs756300540 |
868 | R>W | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs1380087524 CA405706599 |
870 | E>K | No |
ClinGen TOPMed |
|
|
rs754917308 CA9418115 |
872 | P>A | No |
ExAC gnomAD ClinGen |
|
|
rs1555841351 CA405706633 |
872 | P>H | No |
ClinGen Ensembl |
|
|
CA9418116 rs754917308 |
872 | P>S | No |
ExAC gnomAD ClinGen |
|
|
rs771969423 CA9418118 |
873 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9418119 rs143948203 |
873 | P>L | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA405706643 rs143948203 |
873 | P>R | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs771969423 CA405706639 |
873 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9418120 rs753091185 |
874 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
| rs869292397 | 874 | D>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| rs869292397 | 874 | D>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs945344270 CA308125755 |
877 | E>G | No |
TOPMed gnomAD ClinGen |
|
|
rs527335986 CA9418121 |
877 | E>K | No |
1000Genomes ExAC TOPMed gnomAD ClinGen |
|
| TCGA novel | 879 | C>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs565687082 CA405706777 |
880 | I>M | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA9418123 rs759094284 RCV001338692 |
880 | I>V | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
rs373484898 CA9418126 |
882 | R>C | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA405706808 rs1197782546 |
882 | R>H | No |
gnomAD ClinGen |
|
|
CA9418127 rs767861850 |
884 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ExAC gnomAD ClinGen NCI-TCGA |
|
rs766733463 CA9418130 |
886 | Y>F | No |
ExAC gnomAD ClinGen |
|
|
CA9418131 rs142064046 |
888 | G>S | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
| TCGA novel | 889 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs370231267 CA9418134 |
891 | A>T | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs144140192 CA9418136 |
892 | V>M | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1448598062 CA405707045 |
893 | P>A | No |
ClinGen gnomAD |
|
|
CA405707073 rs1568754170 COSM418277 |
894 | G>D | Variant assessed as Somatic; impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
RCV002294451 RCV001288422 rs141002044 CA9418140 |
894 | G>S | No |
ESP ExAC TOPMed gnomAD ClinGen ClinVar dbSNP |
|
|
COSM3388965 rs774994665 CA9418142 |
897 | D>N | pancreas [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs748619848 CA9418143 |
900 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA405707199 rs1599868498 |
900 | S>Y | No |
ClinGen Ensembl |
|
|
RCV001304836 rs1969394542 |
901 | F>L | No |
ClinVar dbSNP |
|
|
CA405707208 rs1217770292 |
901 | F>S | No |
ClinGen gnomAD |
|
|
rs150439937 CA9418145 |
903 | T>M | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA405707375 rs1171830471 |
909 | S>N | No |
ClinGen gnomAD |
|
|
CA405707392 rs189577008 |
910 | D>N | No |
1000Genomes TOPMed gnomAD ClinGen |
|
|
CA308125853 rs189577008 |
910 | D>Y | No |
1000Genomes TOPMed gnomAD ClinGen |
|
|
CA308125855 rs768544485 |
911 | L>P | No |
Ensembl ClinGen |
|
|
rs138223953 CA9418152 |
911 | L>V | No |
ESP ExAC TOPMed gnomAD ClinGen |
No associated diseases with O43707
Functions
18 GO annotations of cellular component
| Name | Definition |
|---|---|
| actin cytoskeleton | The part of the cytoskeleton (the internal framework of a cell) composed of actin and associated proteins. Includes actin cytoskeleton-associated complexes. |
| cell junction | A cellular component that forms a specialized region of connection between two or more cells, or between a cell and the extracellular matrix, or between two membrane-bound components of a cell, such as flagella. |
| cell projection | A prolongation or process extending from a cell, e.g. a flagellum or axon. |
| cortical actin cytoskeleton | The portion of the actin cytoskeleton, comprising filamentous actin and associated proteins, that lies just beneath the plasma membrane. |
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| extracellular exosome | A vesicle that is released into the extracellular region by fusion of the limiting endosomal membrane of a multivesicular body with the plasma membrane. Extracellular exosomes, also simply called exosomes, have a diameter of about 40-100 nm. |
| extracellular region | The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite. |
| extracellular space | That part of a multicellular organism outside the cells proper, usually taken to be outside the plasma membranes, and occupied by fluid. |
| focal adhesion | A cell-substrate junction that anchors the cell to the extracellular matrix and that forms a point of termination of actin filaments. In insects focal adhesion has also been referred to as hemi-adherens junction (HAJ). |
| 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. |
| perinuclear region of cytoplasm | Cytoplasm situated near, or occurring around, the nucleus. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
| platelet alpha granule lumen | The volume enclosed by the membrane of the platelet alpha granule. |
| protein-containing complex | A stable assembly of two or more macromolecules, i.e. proteins, nucleic acids, carbohydrates or lipids, in which at least one component is a protein and the constituent parts function together. |
| pseudopodium | A temporary protrusion or retractile process of a cell, associated with flowing movements of the protoplasm, and serving for locomotion and feeding. |
| ribonucleoprotein complex | A macromolecular complex that contains both RNA and protein molecules. |
| stress fiber | A contractile actin filament bundle that consists of short actin filaments with alternating polarity, cross-linked by alpha-actinin and possibly other actin bundling proteins, and with myosin present in a periodic distribution along the fiber. |
| Z disc | Platelike region of a muscle sarcomere to which the plus ends of actin filaments are attached. |
14 GO annotations of molecular function
| Name | Definition |
|---|---|
| actin binding | Binding to monomeric or multimeric forms of actin, including actin filaments. |
| actin filament binding | Binding to an actin filament, also known as F-actin, a helical filamentous polymer of globular G-actin subunits. |
| calcium ion binding | Binding to a calcium ion (Ca2+). |
| chromatin DNA binding | Binding to DNA that is assembled into chromatin. |
| integrin binding | Binding to an integrin. |
| nuclear receptor binding | Binding to a nuclear receptor protein. Nuclear receptor proteins are DNA-binding transcription factors which are regulated by binding to a ligand. |
| nuclear receptor coactivator activity | A transcription coactivator activity that activates or increases the transcription of specific gene sets via binding to a DNA-bound nuclear receptor, either on its own or as part of a complex. Coactivators often act by altering chromatin structure and modifications. For example, one class of transcription coregulators modifies chromatin structure through covalent modification of histones. A second class remodels the conformation of chromatin in an ATP-dependent fashion. A third class modulates interactions of DNA-bound DNA-binding transcription factors with other transcription coregulators. A fourth class of coactivator activity is the bridging of a DNA-binding transcription factor to the general (basal) transcription machinery. The Mediator complex, which bridges sequence-specific DNA binding transcription factors and RNA polymerase, is also a transcription coactivator. |
| nuclear retinoic acid receptor binding | Binding to a nuclear retinoic acid receptor, a ligand-regulated transcription factor belonging to the nuclear receptor superfamily. |
| nucleoside binding | Binding to a nucleoside, a compound consisting of a purine or pyrimidine nitrogenous base linked either to ribose or deoxyribose. |
| protein homodimerization activity | Binding to an identical protein to form a homodimer. |
| RNA binding | Binding to an RNA molecule or a portion thereof. |
| 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. |
| transcription coactivator activity | A transcription coregulator activity that activates or increases the transcription of specific gene sets via binding to a DNA-bound DNA-binding transcription factor, either on its own or as part of a complex. Coactivators often act by altering chromatin structure and modifications. For example, one class of transcription coactivators modifies chromatin structure through covalent modification of histones. A second class remodels the conformation of chromatin in an ATP-dependent fashion. A third class modulates interactions of DNA-bound DNA-binding transcription factors with other transcription coregulators. A fourth class of coactivator activity is the bridging of a DNA-binding transcription factor to the general (basal) transcription machinery. The Mediator complex, which bridges sequence-specific DNA binding transcription factors and RNA polymerase, is also a transcription coactivator. |
| transmembrane transporter binding | Binding to a transmembrane transporter, a protein or protein complex that enables the transfer of a substance, usually a specific substance or a group of related substances, from one side of a membrane to the other. |
13 GO annotations of biological process
| Name | Definition |
|---|---|
| actin cytoskeleton organization | A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of cytoskeletal structures comprising actin filaments and their associated proteins. |
| muscle cell development | The process whose specific outcome is the progression of a muscle cell over time, from its formation to the mature structure. Muscle cell development does not include the steps involved in committing an unspecified cell to the muscle cell fate. |
| negative regulation of substrate adhesion-dependent cell spreading | Any process that stops, prevents or reduces the frequency, rate or extent of substrate adhesion-dependent cell spreading. |
| peroxisome proliferator activated receptor signaling pathway | The series of molecular signals initiated by binding of a ligand to any of the peroxisome proliferator activated receptors (alpha, beta or gamma) in the nuclear membrane, and ending with the initiation or termination of the transcription of target genes. |
| positive regulation of cell migration | Any process that activates or increases the frequency, rate or extent of cell migration. |
| positive regulation of non-canonical NF-kappaB signal transduction | Any process that activates or increases the frequency, rate or extent of NIK/NF-kappaB signaling. |
| positive regulation of sodium:proton antiporter activity | Any process that activates or increases the activity of a sodium:hydrogen antiporter, which catalyzes the reaction |
| 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. |
| protein transport | The directed movement of proteins into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. |
| regulation of apoptotic process | Any process that modulates the occurrence or rate of cell death by apoptotic process. |
| retinoic acid receptor signaling pathway | The series of molecular signals generated as a consequence of a retinoic acid receptor binding to one of its physiological ligands. |
| tumor necrosis factor-mediated signaling pathway | The series of molecular signals initiated by tumor necrosis factor binding to its receptor on the surface of a cell, and ending with the regulation of a downstream cellular process, e.g. transcription. |
| vesicle transport along actin filament | Movement of a vesicle along an actin filament, mediated by motor proteins. |
20 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| A5D7D1 | ACTN4 | Alpha-actinin-4 | Bos taurus (Bovine) | SS |
| Q0III9 | ACTN3 | Alpha-actinin-3 | Bos taurus (Bovine) | SS |
| Q3B7N2 | ACTN1 | Alpha-actinin-1 | Bos taurus (Bovine) | SS |
| Q3ZC55 | ACTN2 | Alpha-actinin-2 | Bos taurus (Bovine) | SS |
| P05094 | ACTN1 | Alpha-actinin-1 | Gallus gallus (Chicken) | SS |
| P20111 | ACTN2 | Alpha-actinin-2 | Gallus gallus (Chicken) | SS |
| Q90734 | ACTN4 | Alpha-actinin-4 | Gallus gallus (Chicken) | SS |
| P18091 | Actn | Alpha-actinin, sarcomeric | Drosophila melanogaster (Fruit fly) | SS |
| O15020 | SPTBN2 | Spectrin beta chain, non-erythrocytic 2 | Homo sapiens (Human) | PR |
| P11277 | SPTB | Spectrin beta chain, erythrocytic | Homo sapiens (Human) | PR |
| Q01082 | SPTBN1 | Spectrin beta chain, non-erythrocytic 1 | Homo sapiens (Human) | PR |
| P35609 | ACTN2 | Alpha-actinin-2 | Homo sapiens (Human) | EV |
| Q08043 | ACTN3 | Alpha-actinin-3 | Homo sapiens (Human) | SS |
| P12814 | ACTN1 | Alpha-actinin-1 | Homo sapiens (Human) | SS |
| O88990 | Actn3 | Alpha-actinin-3 | Mus musculus (Mouse) | SS |
| Q7TPR4 | Actn1 | Alpha-actinin-1 | Mus musculus (Mouse) | SS |
| Q9JI91 | Actn2 | Alpha-actinin-2 | Mus musculus (Mouse) | SS |
| P57780 | Actn4 | Alpha-actinin-4 | Mus musculus (Mouse) | SS |
| Q9Z1P2 | Actn1 | Alpha-actinin-1 | Rattus norvegicus (Rat) | SS |
| Q9QXQ0 | Actn4 | Alpha-actinin-4 | Rattus norvegicus (Rat) | SS |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MVDYHAANQS | YQYGPSSAGN | GAGGGGSMGD | YMAQEDDWDR | DLLLDPAWEK | QQRKTFTAWC |
| 70 | 80 | 90 | 100 | 110 | 120 |
| NSHLRKAGTQ | IENIDEDFRD | GLKLMLLLEV | ISGERLPKPE | RGKMRVHKIN | NVNKALDFIA |
| 130 | 140 | 150 | 160 | 170 | 180 |
| SKGVKLVSIG | AEEIVDGNAK | MTLGMIWTII | LRFAIQDISV | EETSAKEGLL | LWCQRKTAPY |
| 190 | 200 | 210 | 220 | 230 | 240 |
| KNVNVQNFHI | SWKDGLAFNA | LIHRHRPELI | EYDKLRKDDP | VTNLNNAFEV | AEKYLDIPKM |
| 250 | 260 | 270 | 280 | 290 | 300 |
| LDAEDIVNTA | RPDEKAIMTY | VSSFYHAFSG | AQKAETAANR | ICKVLAVNQE | NEHLMEDYEK |
| 310 | 320 | 330 | 340 | 350 | 360 |
| LASDLLEWIR | RTIPWLEDRV | PQKTIQEMQQ | KLEDFRDYRR | VHKPPKVQEK | CQLEINFNTL |
| 370 | 380 | 390 | 400 | 410 | 420 |
| QTKLRLSNRP | AFMPSEGKMV | SDINNGWQHL | EQAEKGYEEW | LLNEIRRLER | LDHLAEKFRQ |
| 430 | 440 | 450 | 460 | 470 | 480 |
| KASIHEAWTD | GKEAMLKHRD | YETATLSDIK | ALIRKHEAFE | SDLAAHQDRV | EQIAAIAQEL |
| 490 | 500 | 510 | 520 | 530 | 540 |
| NELDYYDSHN | VNTRCQKICD | QWDALGSLTH | SRREALEKTE | KQLEAIDQLH | LEYAKRAAPF |
| 550 | 560 | 570 | 580 | 590 | 600 |
| NNWMESAMED | LQDMFIVHTI | EEIEGLISAH | DQFKSTLPDA | DREREAILAI | HKEAQRIAES |
| 610 | 620 | 630 | 640 | 650 | 660 |
| NHIKLSGSNP | YTTVTPQIIN | SKWEKVQQLV | PKRDHALLEE | QSKQQSNEHL | RRQFASQANV |
| 670 | 680 | 690 | 700 | 710 | 720 |
| VGPWIQTKME | EIGRISIEMN | GTLEDQLSHL | KQYERSIVDY | KPNLDLLEQQ | HQLIQEALIF |
| 730 | 740 | 750 | 760 | 770 | 780 |
| DNKHTNYTME | HIRVGWEQLL | TTIARTINEV | ENQILTRDAK | GISQEQMQEF | RASFNHFDKD |
| 790 | 800 | 810 | 820 | 830 | 840 |
| HGGALGPEEF | KACLISLGYD | VENDRQGEAE | FNRIMSLVDP | NHSGLVTFQA | FIDFMSRETT |
| 850 | 860 | 870 | 880 | 890 | 900 |
| DTDTADQVIA | SFKVLAGDKN | FITAEELRRE | LPPDQAEYCI | ARMAPYQGPD | AVPGALDYKS |
| 910 | |||||
| FSTALYGESD | L |