Q13490
EV
Gene name |
BIRC2 (API1, MIHB, RNF48) |
Protein name |
Baculoviral IAP repeat-containing protein 2 |
Names |
Cellular inhibitor of apoptosis 1, C-IAP1, IAP homolog B, Inhibitor of apoptosis protein 2, hIAP-2, hIAP2, RING finger protein 48, RING-type E3 ubiquitin transferase BIRC2, TNFR2-TRAF-signaling complex protein 2 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:329 |
EC number |
2.3.2.27: Aminoacyltransferases |
Protein Class |
INHIBITOR OF APOPTOSIS (PTHR10044) |
Descriptions
E3 ligases mediate the covalent attachment of ubiquitin to target proteins thereby enabling ubiquitin dependent signaling. Baculoviral IAP repeat-containing protein 2 (BIRC2) protein is an E3 ligase that modulates diverse biological processes such as cell survival, proliferation, and migration. Full-length BIRC2 fails to associate with E2, but CARD-deleted mutant BIRC2 readily interacts with E2. The CARD inhibits activation of BIRC2’s E3 activity by preventing RING dimerization, E2 binding, and E2 activation. In addition, BIRC2 lacking only the BIR3 domain readily associates with the E2, representing that the CARD and BIR3 domains are both required for inhibition of E3 activity of BIRC2.
Autoinhibitory domains (AIDs)
Target domain |
571-616 (RING domain) |
Relief mechanism |
Ligand binding |
Assay |
Structural analysis, Deletion assay, Mutagenesis experiment |
Target domain |
571-616 (RING domain) |
Relief mechanism |
Ligand binding |
Assay |
Deletion assay |
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
29 structures for Q13490
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 1QBH | NMR | - | A | 266-363 | PDB |
| 2L9M | NMR | - | A | 435-562 | PDB |
| 3D9T | X-ray | 150 A | A/B | 260-352 | PDB |
| 3D9U | X-ray | 230 A | A | 260-352 | PDB |
| 3M1D | X-ray | 200 A | A/B | 40-119 | PDB |
| 3MUP | X-ray | 260 A | A/B/C/D | 251-363 | PDB |
| 3OZ1 | X-ray | 300 A | A/B/C/D | 251-363 | PDB |
| 3T6P | X-ray | 190 A | A | 265-618 | PDB |
| 3UW4 | X-ray | 179 A | A | 266-343 | PDB |
| 4EB9 | X-ray | 260 A | A/B/C/D | 251-363 | PDB |
| 4HY4 | X-ray | 125 A | A/B | 260-352 | PDB |
| 4HY5 | X-ray | 175 A | A/B | 260-352 | PDB |
| 4KMN | X-ray | 152 A | A | 260-357 | PDB |
| 4LGE | X-ray | 155 A | A/B | 260-352 | PDB |
| 4LGU | X-ray | 200 A | A/B | 260-352 | PDB |
| 4MTI | X-ray | 215 A | A/B | 260-352 | PDB |
| 4MU7 | X-ray | 179 A | A/B | 260-352 | PDB |
| 5M6N | X-ray | 180 A | A/B | 266-363 | PDB |
| 6EXW | X-ray | 220 A | A/C | 250-363 | PDB |
| 6HPR | X-ray | 170 A | A | 556-618 | PDB |
| 6W74 | X-ray | 211 A | A | 260-352 | PDB |
| 6W7O | X-ray | 217 A | C/D | 260-352 | PDB |
| 6W8I | X-ray | 380 A | D/E/F | 260-352 | PDB |
| 7QGJ | X-ray | 130 A | A/B | 175-256 | PDB |
| 7TRL | X-ray | 174 A | A | 261-346 | PDB |
| 7TRM | X-ray | 240 A | A | 261-346 | PDB |
| 8DSF | X-ray | 150 A | A/B/C/D | 260-352 | PDB |
| 8DSO | X-ray | 233 A | D | 260-352 | PDB |
| AF-Q13490-F1 | Predicted | AlphaFoldDB |
463 variants for Q13490
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA6246990 rs757466947 |
2 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1313156908 CA382217928 |
3 | K>E | No |
ClinGen TOPMed |
|
|
rs145073481 CA6246991 |
5 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1376496609 CA382218002 |
8 | R>K | No |
ClinGen TOPMed |
|
|
rs1376496609 CA382218003 |
8 | R>T | No |
ClinGen TOPMed |
|
|
CA6246994 rs186958632 |
9 | L>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs376075036 CA227310539 |
10 | F>S | No |
ClinGen ESP |
|
|
CA6246996 rs780316404 |
11 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769096755 CA6246997 |
11 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA6246995 rs780316404 |
11 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777390642 CA6246999 |
12 | G>C | No |
ClinGen ExAC TOPMed |
|
|
rs777390642 CA382218065 |
12 | G>S | No |
ClinGen ExAC TOPMed |
|
|
rs1240401330 CA382218080 |
13 | P>S | No |
ClinGen gnomAD |
|
|
CA382218099 rs1273719777 |
14 | S>A | No |
ClinGen gnomAD |
|
|
CA6247001 rs531296011 |
14 | S>L | No |
ClinGen 1000Genomes ExAC TOPMed |
|
|
CA382218106 rs531296011 |
14 | S>W | No |
ClinGen 1000Genomes ExAC TOPMed |
|
|
CA6247003 rs774092414 |
16 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA6247004 rs377194676 |
16 | Q>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA227310591 rs933401635 |
17 | N>T | No |
ClinGen TOPMed gnomAD |
|
|
rs771862823 CA6247005 |
18 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs775190108 CA382218193 |
19 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA227310619 rs1050902695 |
21 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA6247008 rs763995359 |
26 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6247009 rs776687396 |
26 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6247011 rs765313317 |
27 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs750592727 CA6247012 |
28 | L>S | No |
ClinGen ExAC gnomAD |
|
|
rs750592727 CA382218353 |
28 | L>W | No |
ClinGen ExAC gnomAD |
|
|
rs1392475818 CA382218389 |
30 | D>E | No |
ClinGen gnomAD |
|
|
rs889143031 CA227310642 |
32 | T>A | No |
ClinGen TOPMed |
|
|
CA6247013 rs561590437 |
33 | N>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs368571070 CA6247014 |
34 | S>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs368571070 CA6247015 |
34 | S>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6247016 rs143071976 |
35 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6247018 rs369289038 |
37 | Q>E | No |
ClinGen ESP ExAC gnomAD |
|
|
rs899855245 CA227310685 |
37 | Q>P | No |
ClinGen TOPMed |
|
|
rs756781770 CA6247019 |
39 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs756781770 CA382218556 |
39 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs1252853341 CA382218577 |
40 | K>T | No |
ClinGen gnomAD |
|
|
rs1367035285 CA382218646 |
45 | C>R | No |
ClinGen TOPMed |
|
|
rs775343215 CA6247023 |
46 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs1201603026 CA382218728 |
52 | T>A | No |
ClinGen gnomAD |
|
|
rs768443468 CA6247025 |
54 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA6247026 rs147638046 |
55 | T>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs765386384 CA6247028 |
55 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA6247027 rs147638046 |
55 | T>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs147638046 CA227310749 |
55 | T>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1364206865 CA382218783 |
57 | P>R | No |
ClinGen gnomAD |
|
|
CA6247031 rs190798003 |
58 | A>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA382218788 rs190798003 |
58 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6247034 rs768018809 |
60 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA382218876 rs1223209914 |
66 | S>N | No |
ClinGen gnomAD |
|
|
CA382218882 rs1485606833 |
67 | L>F | No |
ClinGen gnomAD |
|
|
rs200457538 CA227310813 |
68 | A>T | No |
ClinGen 1000Genomes |
|
|
CA6247038 rs745428800 |
69 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA382218893 rs1268013065 |
69 | R>H | No |
ClinGen TOPMed |
|
|
CA382218923 rs1209118505 |
73 | Y>* | No |
ClinGen TOPMed |
|
|
rs373468213 CA6247039 |
77 | V>L | No |
ClinGen ESP ExAC gnomAD |
|
|
rs373468213 CA6247040 |
77 | V>M | No |
ClinGen ESP ExAC gnomAD |
|
|
CA382218955 rs1383843716 |
78 | N>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1183297460 CA382218952 |
78 | N>S | No |
ClinGen gnomAD |
|
|
CA382218960 rs1269709079 |
79 | D>G | No |
ClinGen TOPMed |
|
|
rs375296936 CA6247041 |
82 | K>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6247042 rs375296936 |
82 | K>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs549630656 CA6247044 |
85 | C>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs549630656 CA6247045 |
85 | C>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs916329726 CA227310888 |
89 | M>I | No |
ClinGen gnomAD |
|
|
rs1461000442 CA382219035 |
90 | L>Q | No |
ClinGen gnomAD |
|
|
rs779512813 CA227310899 |
91 | D>Y | No |
ClinGen Ensembl |
|
|
CA382219049 rs1451479658 |
92 | N>S | No |
ClinGen gnomAD |
|
|
CA6247047 rs762878653 |
95 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA227310906 rs755017926 |
97 | D>E | No |
ClinGen Ensembl |
|
|
rs1331139944 CA382219084 |
97 | D>G | No |
ClinGen TOPMed |
|
|
CA382219088 rs1246581957 |
98 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
rs771059742 CA6247048 |
98 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA6247049 rs568934856 |
100 | I>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1565330252 CA382219121 |
102 | K>N | No |
ClinGen Ensembl |
|
|
CA6247050 rs759871753 |
104 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA382219136 rs1322955421 |
104 | K>N | No |
ClinGen TOPMed |
|
|
CA382219140 rs1465465161 |
105 | Q>P | No |
ClinGen gnomAD |
|
|
CA382219160 rs1241655376 |
108 | P>S | No |
ClinGen gnomAD |
|
|
rs532791577 CA227310952 |
109 | S>T | No |
ClinGen gnomAD |
|
|
CA382219188 rs1184620623 |
112 | F>V | No |
ClinGen gnomAD |
|
|
rs753163261 CA6247052 |
115 | N>H | No |
ClinGen ExAC gnomAD |
|
|
rs1160581153 CA382219224 |
117 | V>F | No |
ClinGen gnomAD |
|
|
rs369631692 CA227310996 |
119 | A>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs369631692 CA6247053 |
119 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1468961697 CA382219241 |
120 | S>N | No |
ClinGen gnomAD |
|
|
CA6247054 rs764576071 |
122 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754374372 CA6247055 |
123 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs969108092 CA227311008 |
124 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs925562995 CA227311023 |
125 | S>C | No |
ClinGen TOPMed |
|
|
rs779636887 CA6247057 COSM3808181 |
126 | K>N | breast [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs1464191608 CA382219271 |
126 | K>Q | No |
ClinGen TOPMed |
|
|
CA6247058 rs751130995 |
128 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs754662778 CA6247059 |
128 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA382219294 rs747990760 |
129 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6247061 rs747990760 |
129 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769710384 CA382219296 |
130 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6247062 rs769710384 |
130 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs935615256 CA227311083 |
131 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
rs201614272 CA6247064 |
132 | R>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA227311102 rs1053086622 |
133 | N>S | No |
ClinGen Ensembl |
|
|
CA6247065 rs147363362 |
134 | S>G | No |
ClinGen ESP ExAC gnomAD |
|
|
CA227311109 rs147363362 |
134 | S>R | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1412020397 CA382219331 |
135 | F>C | No |
ClinGen gnomAD |
|
|
rs1039848825 CA227311111 |
136 | A>T | No |
ClinGen Ensembl |
|
|
CA6247067 rs114363568 |
137 | H>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1388306581 CA382219365 |
140 | S>F | No |
ClinGen TOPMed |
|
|
rs1316518138 CA382219371 |
141 | P>L | No |
ClinGen TOPMed |
|
|
rs1316518138 CA382219370 |
141 | P>R | No |
ClinGen TOPMed |
|
|
CA227311149 rs1027006922 |
142 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA382219376 rs1027006922 |
142 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1172051137 CA382219391 |
144 | E>D | No |
ClinGen TOPMed |
|
|
CA382219385 rs1591531770 |
144 | E>Q | No |
ClinGen Ensembl |
|
|
rs764532717 CA6247071 |
145 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs761054060 CA6247070 |
145 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA382219399 rs1344833491 |
146 | S>G | No |
ClinGen gnomAD |
|
|
rs1391915045 CA382219402 |
146 | S>N | No |
ClinGen TOPMed |
|
|
rs887080224 CA227311185 |
149 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
CA382219427 rs887080224 |
149 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
CA382219431 rs1281461909 |
150 | S>N | No |
ClinGen gnomAD |
|
|
rs1448665303 CA382219436 |
151 | G>S | No |
ClinGen TOPMed |
|
|
CA6247072 rs142241448 |
152 | S>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs753226433 CA6247073 |
154 | S>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1306163467 CA382219459 |
154 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
CA6247075 rs751116057 |
158 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA227311254 rs373200978 |
158 | P>R | No |
ClinGen ESP |
|
|
rs751116057 CA6247076 |
158 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA382219494 rs960568242 |
160 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA227311276 rs960568242 |
160 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
CA227311272 rs1015238864 |
160 | P>S | No |
ClinGen Ensembl |
|
|
CA227311310 rs202103808 |
161 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA227311287 rs202103808 |
161 | L>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1405505936 CA382219497 |
161 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1354650519 CA382219499 |
162 | N>H | No |
ClinGen Ensembl |
|
|
CA6247077 rs376371030 |
162 | N>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA382219515 rs1270423948 |
164 | R>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1478142635 CA382219525 |
165 | A>V | No |
ClinGen gnomAD |
|
|
rs755857551 CA6247079 |
166 | V>I | No |
ClinGen ExAC |
|
|
rs777657382 CA6247080 |
168 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA382219550 rs1268780838 |
169 | I>N | No |
ClinGen TOPMed |
|
|
rs1170926563 CA382219562 |
171 | S>L | No |
ClinGen gnomAD |
|
|
rs369921460 CA6247082 |
172 | S>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1341267366 CA382219580 |
174 | T>S | No |
ClinGen TOPMed |
|
|
rs866479373 CA227311404 |
175 | N>D | No |
ClinGen Ensembl |
|
|
rs139349997 CA6247083 |
175 | N>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs139349997 CA382219588 |
175 | N>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA382219585 rs1591531864 |
175 | N>T | No |
ClinGen Ensembl |
|
|
rs1347541086 CA382219591 |
176 | P>S | No |
ClinGen gnomAD |
|
|
CA6247086 rs372125025 |
177 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs772282652 CA6247085 |
177 | Y>D | No |
ClinGen ExAC gnomAD |
|
|
rs772282652 CA382219595 |
177 | Y>N | No |
ClinGen ExAC gnomAD |
|
|
rs1216650666 CA382219602 |
178 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
CA382219607 rs1275800401 |
178 | S>N | No |
ClinGen gnomAD |
|
|
rs1275800401 CA382219605 |
178 | S>T | No |
ClinGen gnomAD |
|
|
rs1293311971 CA382219634 |
181 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
rs777091998 CA6247089 COSM3358980 |
182 | S>N | kidney [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA6247092 rs765828072 |
183 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6247090 rs762201946 |
183 | T>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6247091 rs765828072 |
183 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA227311454 rs372507082 |
186 | A>T | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs758975746 CA6247093 |
188 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA382219728 rs1591531907 |
190 | T>P | No |
ClinGen Ensembl |
|
|
rs767040556 CA6247095 |
191 | Y>F | No |
ClinGen ExAC gnomAD |
|
|
rs866704792 CA227311462 |
192 | H>N | No |
ClinGen Ensembl |
|
|
rs182528901 CA6247096 |
192 | H>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA6247098 rs763777917 |
193 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA6247097 rs755833024 |
193 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757139875 CA6247100 |
196 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA227311485 rs1013822433 |
197 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1382586698 CA382219812 |
198 | F>I | No |
ClinGen gnomAD |
|
|
CA382219861 rs1357715551 |
202 | S>L | No |
ClinGen TOPMed gnomAD |
|
|
CA6247104 rs780311859 |
205 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs1281543946 CA382219901 |
206 | R>G | No |
ClinGen gnomAD |
|
|
CA382219918 rs1342055072 |
207 | A>G | No |
ClinGen TOPMed |
|
|
rs1209042391 CA382219950 |
210 | Y>F | No |
ClinGen gnomAD |
|
|
rs752881236 CA6247107 |
212 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1158008768 CA382220028 |
217 | R>K | No |
ClinGen gnomAD |
|
|
rs1382956609 CA382220031 |
217 | R>S | No |
ClinGen gnomAD |
|
|
CA382220046 rs1221911908 |
219 | A>S | No |
ClinGen Ensembl |
|
|
rs763487054 CA6247111 |
220 | C>S | No |
ClinGen ExAC gnomAD |
|
|
CA6247112 rs766985522 |
222 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA6247114 rs760232302 |
224 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs775033677 CA6247113 |
224 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA382220143 rs1230352095 |
228 | S>T | No |
ClinGen TOPMed |
|
|
CA382220154 rs1336563557 |
229 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
CA6247115 rs763875624 |
231 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA382220226 rs150042748 |
235 | D>G | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA227311639 rs150042748 |
235 | D>V | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA6247116 rs753437872 COSM1660777 |
237 | M>V | kidney [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs1352270538 CA382220259 |
238 | S>L | No |
ClinGen gnomAD |
|
|
rs1228601774 CA382220268 |
239 | E>G | No |
ClinGen gnomAD |
|
|
rs1262067501 CA382220277 |
240 | H>Y | No |
ClinGen gnomAD |
|
|
rs144530384 CA6247117 |
241 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1160756846 CA382220290 |
241 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
rs145543164 CA6247119 |
246 | N>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs758447885 CA6247120 |
247 | C>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA382220366 rs1362102112 |
248 | P>A | No |
ClinGen gnomAD |
|
|
CA227311717 rs780258569 |
250 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6247123 rs755148663 |
252 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA6247122 rs751715885 |
252 | N>Y | No |
ClinGen ExAC gnomAD |
|
|
rs781404080 CA6247125 |
253 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781404080 CA6247124 |
253 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1473368142 CA382220439 |
254 | L>P | No |
ClinGen TOPMed |
|
|
rs1251977162 CA382220445 |
255 | E>A | No |
ClinGen TOPMed |
|
|
rs756996055 CA227311754 |
256 | T>A | No |
ClinGen gnomAD |
|
|
rs1156539517 CA382220463 |
257 | L>P | No |
ClinGen gnomAD |
|
|
CA6247127 rs752678600 |
260 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs749775498 CA6247128 |
260 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA382220527 rs1409857425 |
263 | N>T | No |
ClinGen gnomAD |
|
|
rs774978383 CA6247130 |
267 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
rs1225028747 CA382220592 |
268 | T>I | No |
ClinGen gnomAD |
|
|
rs931401669 CA227311790 |
269 | H>R | No |
ClinGen Ensembl |
|
|
CA6247131 rs760167549 |
269 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA382220605 rs199529630 |
270 | A>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA382220606 rs199529630 |
270 | A>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6247132 rs199777189 |
270 | A>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA6247133 rs199529630 |
270 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs143542691 CA6247135 |
272 | R>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA382220619 rs1565330617 |
272 | R>Q | No |
ClinGen Ensembl |
|
|
CA227311800 rs778432166 |
275 | T>A | No |
ClinGen Ensembl |
|
|
CA382220679 rs1224360925 |
277 | M>I | No |
ClinGen TOPMed |
|
|
CA6247136 rs569696504 |
277 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA6247137 rs547454503 |
278 | Y>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs547454503 CA382220689 |
278 | Y>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA227311802 rs887141040 |
281 | S>C | No |
ClinGen Ensembl |
|
|
rs755023156 CA6247140 |
284 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs781150440 CA6247141 |
285 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA6247142 rs752937365 |
286 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6247144 rs146787390 |
286 | Q>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1430965097 CA382220806 |
289 | Q>E | No |
ClinGen gnomAD |
|
|
CA382220832 rs1301970995 |
291 | A>S | No |
ClinGen gnomAD |
|
|
rs1301970995 CA382220828 |
291 | A>T | No |
ClinGen gnomAD |
|
|
rs749720541 CA6247145 |
292 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs1309255132 CA382220838 |
292 | S>R | No |
ClinGen gnomAD |
|
|
rs140378382 CA6247148 |
297 | Y>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6247147 rs374540712 |
297 | Y>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6247166 rs191312831 |
300 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1565330747 CA382220977 |
301 | N>S | No |
ClinGen Ensembl |
|
|
CA382221003 rs1203676635 |
303 | D>G | No |
ClinGen gnomAD |
|
|
rs1013457850 CA227312013 |
305 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1013457850 CA382221024 |
305 | K>T | No |
ClinGen TOPMed gnomAD |
|
|
CA382221043 rs1450535046 |
307 | F>C | No |
ClinGen gnomAD |
|
|
CA382221061 rs1319485147 |
309 | C>W | No |
ClinGen TOPMed |
|
|
rs988202087 CA227312023 |
315 | C>* | No |
ClinGen TOPMed |
|
|
rs1591532199 CA382221096 |
315 | C>G | No |
ClinGen Ensembl |
|
|
CA382221142 rs1383884262 |
321 | D>Y | No |
ClinGen gnomAD |
|
|
rs1565330792 CA382221163 |
324 | V>I | No |
ClinGen Ensembl |
|
|
rs1395045474 CA382221183 |
326 | H>Q | No |
ClinGen TOPMed |
|
|
rs1164847187 CA382221191 |
328 | K>Q | No |
ClinGen gnomAD |
|
|
CA6247192 rs780355319 |
333 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
CA6247194 COSM922233 rs747527688 |
335 | F>L | endometrium [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA382221511 rs896200881 |
338 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
CA382221514 COSM466206 rs777453407 |
338 | R>L | kidney [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA6247195 rs777453407 |
338 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs113357102 CA227322033 |
340 | K>E | No |
ClinGen Ensembl |
|
|
CA227322044 rs778451362 |
341 | G>D | No |
ClinGen TOPMed |
|
|
rs143612582 CA227322039 |
341 | G>S | No |
ClinGen ESP gnomAD |
|
|
rs201120793 CA6247200 |
343 | E>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1245817914 CA382221606 |
351 | R>S | No |
ClinGen TOPMed |
|
|
rs1431615836 CA382221604 |
351 | R>T | No |
ClinGen gnomAD |
|
|
rs1351227673 CA382221611 |
352 | Y>C | No |
ClinGen gnomAD |
|
|
rs764129109 CA6247203 |
352 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA6247204 rs776738684 |
353 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs762006989 CA6247205 |
355 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA382221647 rs1370047357 |
358 | Q>* | No |
ClinGen gnomAD |
|
|
CA6247231 rs763264607 |
361 | S>L | No |
ClinGen ExAC gnomAD |
|
|
CA6247232 rs191453711 |
362 | T>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA6247233 rs752031229 |
365 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs539459586 CA6247235 |
367 | G>A | No |
ClinGen 1000Genomes ExAC TOPMed |
|
|
CA6247236 rs768075722 |
368 | E>V | No |
ClinGen ExAC gnomAD |
|
|
rs1411687699 CA382221739 |
370 | N>S | No |
ClinGen TOPMed |
|
|
rs1416131758 CA382221761 |
373 | P>L | No |
ClinGen gnomAD |
|
|
CA382221764 rs1406136881 |
374 | P>S | No |
ClinGen gnomAD |
|
|
CA6247250 rs773378777 |
376 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA382221797 rs1336665160 |
377 | H>D | No |
ClinGen gnomAD |
|
|
rs763060894 CA6247251 |
378 | F>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1408621270 CA382221821 |
380 | P>R | No |
ClinGen gnomAD |
|
|
rs963755414 CA227325698 |
382 | E>K | No |
ClinGen TOPMed |
|
|
rs1285930767 CA382221837 |
383 | S>G | No |
ClinGen gnomAD |
|
|
rs771348623 CA6247252 |
383 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA227325703 rs558860831 |
387 | D>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6247254 rs558860831 |
387 | D>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1342666704 CA382221869 |
388 | A>T | No |
ClinGen gnomAD |
|
|
CA382221875 rs900159895 |
389 | V>F | No |
ClinGen gnomAD |
|
|
CA227325711 rs900159895 |
389 | V>I | No |
ClinGen gnomAD |
|
|
rs1421341870 CA382221888 |
390 | M>I | No |
ClinGen TOPMed |
|
|
CA382221884 rs1279189443 |
390 | M>T | No |
ClinGen gnomAD |
|
|
CA382221912 rs768824531 |
394 | P>A | No |
ClinGen gnomAD |
|
|
rs1171110903 CA382221915 |
394 | P>R | No |
ClinGen gnomAD |
|
|
rs768824531 CA227325727 |
394 | P>T | No |
ClinGen gnomAD |
|
|
rs1176950043 CA382221918 |
395 | V>M | No |
ClinGen TOPMed |
|
|
CA6247258 rs761286004 |
399 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA6247260 rs750005606 |
401 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1305639642 CA382221969 |
402 | M>I | No |
ClinGen gnomAD |
|
|
CA6247261 rs757979884 |
402 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA6247262 rs765948410 |
405 | N>D | No |
ClinGen ExAC gnomAD |
|
|
rs187423268 CA227325757 |
405 | N>S | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA382222004 rs1329023965 |
407 | D>E | No |
ClinGen gnomAD |
|
|
CA382222005 rs1490202508 |
408 | L>V | No |
ClinGen TOPMed |
|
|
CA382222014 rs1263696466 |
409 | V>A | No |
ClinGen TOPMed |
|
|
CA382222010 rs1235055086 |
409 | V>M | No |
ClinGen gnomAD |
|
|
CA382222031 rs1275233035 |
411 | Q>H | No |
ClinGen gnomAD |
|
|
CA382222024 rs1565337041 |
411 | Q>K | No |
ClinGen Ensembl |
|
|
rs1461600228 CA382222047 |
414 | Q>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1226322637 CA382222060 |
416 | K>E | No |
ClinGen TOPMed |
|
|
CA382222071 rs1296540855 |
417 | I>T | No |
ClinGen gnomAD |
|
|
rs754715751 CA6247264 |
417 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs780991975 CA6247265 |
418 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1015080749 CA227325784 |
420 | T>A | No |
ClinGen Ensembl |
|
|
rs1205997781 CA382222093 |
421 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1266861730 CA382222100 |
422 | E>G | No |
ClinGen gnomAD |
|
|
CA227325794 rs918126059 |
423 | N>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA382222115 rs1378648118 |
424 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1378648118 CA382222114 |
424 | Y>F | No |
ClinGen TOPMed gnomAD |
|
|
CA6247269 rs554624630 |
428 | N>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA382222159 rs1429779673 |
430 | I>M | No |
ClinGen gnomAD |
|
|
rs1455968633 CA382222154 |
430 | I>V | No |
ClinGen TOPMed |
|
|
CA382222162 rs1292435364 |
431 | V>E | No |
ClinGen gnomAD |
|
|
rs771152235 CA6247270 |
431 | V>L | No |
ClinGen ExAC |
|
|
rs202229070 CA227325811 |
435 | L>I | No |
ClinGen TOPMed |
|
|
rs992642841 CA227325821 |
435 | L>P | No |
ClinGen Ensembl |
|
|
rs1388056176 CA382222192 |
436 | N>K | No |
ClinGen gnomAD |
|
|
rs372654134 CA6247271 |
436 | N>S | No |
ClinGen ESP ExAC TOPMed |
|
|
CA382222194 rs1388209218 |
437 | A>T | No |
ClinGen gnomAD |
|
|
rs1323964051 CA382222199 |
437 | A>V | No |
ClinGen gnomAD |
|
|
CA6247272 rs746124930 |
438 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA227325829 rs751745792 |
438 | E>K | No |
ClinGen TOPMed |
|
|
CA6247275 rs551400893 |
441 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6247277 rs377150456 |
442 | R>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA227325888 rs140818148 |
446 | K>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6247278 rs140818148 |
446 | K>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs765895221 CA6247281 |
447 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6247280 rs762391602 |
447 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1392494916 CA382222301 |
452 | E>K | No |
ClinGen gnomAD |
|
|
VAR_049535 CA6247284 rs34749508 |
453 | M>I | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
VAR_025016 CA6247283 rs370745983 |
453 | M>V | No |
ClinGen UniProt ESP ExAC dbSNP gnomAD |
|
|
CA382201035 rs1209894874 |
456 | D>G | No |
ClinGen gnomAD |
|
|
rs1209894874 CA382201036 |
456 | D>V | No |
ClinGen gnomAD |
|
|
rs138445816 CA227289328 |
457 | D>H | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs201111444 CA6247309 |
462 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779124253 CA6247308 COSM289647 |
462 | R>W | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA382201189 rs780263765 |
468 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780263765 CA6247311 |
468 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6247314 rs781445878 |
473 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs770341032 CA6247316 |
474 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
rs371002487 CA6247317 |
476 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6247318 rs758991749 |
477 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA382201314 rs1371246072 |
479 | L>M | No |
ClinGen TOPMed |
|
|
rs1290393404 CA382201329 |
480 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1374332069 CA382201343 |
481 | N>T | No |
ClinGen gnomAD |
|
|
CA6247319 rs771507033 |
486 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1299716808 CA382201404 |
486 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
CA6247320 rs771507033 |
486 | N>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1314456932 CA382201413 |
487 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA382201415 rs1314456932 |
487 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
CA382201438 rs1212279687 |
489 | N>D | No |
ClinGen gnomAD |
|
|
rs1461033908 CA382201444 |
489 | N>I | No |
ClinGen TOPMed |
|
|
rs1481760190 CA382201469 |
491 | Q>P | No |
ClinGen gnomAD |
|
|
CA382201500 rs1206715931 |
493 | H>L | No |
ClinGen gnomAD |
|
|
rs753744567 CA6247323 |
494 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs199507990 CA227289408 |
494 | D>G | No |
ClinGen 1000Genomes ExAC TOPMed |
|
|
rs199507990 CA6247322 |
494 | D>V | No |
ClinGen 1000Genomes ExAC TOPMed |
|
|
CA6247324 rs137930715 |
495 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA382201537 rs1189232434 |
496 | I>V | No |
ClinGen gnomAD |
|
|
CA6247325 rs765198385 |
497 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA382201557 rs1454634675 |
497 | K>R | No |
ClinGen gnomAD |
|
|
rs1427825203 CA382201643 |
500 | T>I | No |
ClinGen gnomAD |
|
|
rs1427825203 CA382201623 |
500 | T>K | No |
ClinGen gnomAD |
|
|
CA382201612 rs1388272783 |
500 | T>P | No |
ClinGen TOPMed gnomAD |
|
|
rs750397617 CA6247327 |
501 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA6247326 rs750397617 |
501 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
CA382201685 rs1436114382 |
502 | I>K | No |
ClinGen gnomAD |
|
|
rs1355324011 CA382201676 |
502 | I>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1436114382 CA382201688 |
502 | I>T | No |
ClinGen gnomAD |
|
|
CA382201683 rs1355324011 |
502 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs780028336 CA6247328 |
503 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6247329 rs751770780 |
503 | P>L | No |
ClinGen ExAC |
|
|
CA382201745 rs1565340522 |
505 | Q>E | No |
ClinGen Ensembl |
|
|
rs34510872 CA227289454 |
506 | A>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs201168098 CA6247331 |
506 | A>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
VAR_025017 rs34510872 CA6247332 |
506 | A>V | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA382201816 COSM922235 rs770159483 |
508 | E>* | endometrium [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed |
|
CA6247333 rs770159483 |
508 | E>Q | No |
ClinGen ExAC TOPMed |
|
|
rs749829698 CA6247335 |
510 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA382201867 rs1218978266 |
511 | D>N | No |
ClinGen gnomAD |
|
|
CA6247337 rs774912256 |
512 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA6247339 rs768261156 |
513 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs61754131 CA6247341 |
516 | K>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6247343 rs375392744 |
518 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA382202060 rs762837911 |
519 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6247344 rs762837911 |
519 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA382202069 rs1162889798 |
520 | A>S | No |
ClinGen gnomAD |
|
|
rs368738246 CA6247345 |
520 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA227289542 rs993651163 |
521 | A>G | No |
ClinGen TOPMed |
|
|
rs962529136 CA227289533 |
521 | A>P | No |
ClinGen TOPMed |
|
|
CA382202088 rs1320317874 |
522 | N>D | No |
ClinGen gnomAD |
|
|
CA382202103 rs1437981385 |
523 | I>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1437981385 CA382202102 |
523 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA382202148 rs1355096988 |
524 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
CA382202194 rs1226139229 |
527 | C>G | No |
ClinGen TOPMed gnomAD |
|
|
CA382202250 rs1565340603 |
530 | E>D | No |
ClinGen Ensembl |
|
|
CA382202239 rs1318354152 |
530 | E>K | No |
ClinGen gnomAD |
|
|
CA6247351 rs756433847 |
531 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6247352 rs749785025 |
533 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs372050334 CA382202308 |
534 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
CA227289609 rs372050334 |
534 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1455281887 CA382202325 |
535 | L>F | No |
ClinGen Ensembl |
|
|
CA6247354 rs779612372 |
535 | L>W | No |
ClinGen ExAC gnomAD |
|
|
CA6247355 rs746439604 |
536 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA382202416 rs1299613029 |
539 | L>* | No |
ClinGen Ensembl |
|
|
rs1462214321 CA382202447 |
540 | F>L | No |
ClinGen gnomAD |
|
|
CA382202425 rs1420214176 |
540 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
CA382202460 rs1591545746 |
541 | V>L | No |
ClinGen Ensembl |
|
|
rs1351949904 CA382202583 |
542 | D>G | No |
ClinGen gnomAD |
|
|
rs1351949904 CA382202584 |
542 | D>V | No |
ClinGen gnomAD |
|
|
CA6247381 rs774118212 |
542 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1239422759 CA382202628 |
544 | N>T | No |
ClinGen gnomAD |
|
|
rs759513163 CA6247383 |
545 | M>L | No |
ClinGen ExAC gnomAD |
|
|
CA6247382 rs759513163 |
545 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA382202699 rs199745735 |
546 | K>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs952040408 CA227289901 |
546 | K>R | No |
ClinGen Ensembl |
|
|
CA6247385 rs200728166 |
547 | Y>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA227289917 rs199866845 |
548 | I>L | No |
ClinGen 1000Genomes |
|
|
CA382202745 rs1206460216 |
549 | P>L | No |
ClinGen TOPMed |
|
|
rs35494784 VAR_025018 CA6247386 |
549 | P>S | No |
ClinGen UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA382202762 rs1305547178 |
550 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA6247387 rs371742922 |
552 | D>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1254106962 CA382202994 |
556 | L>P | No |
ClinGen gnomAD |
|
|
CA227290141 rs1005806850 |
556 | L>V | No |
ClinGen TOPMed |
|
|
rs1166173107 CA382203033 |
559 | E>D | No |
ClinGen gnomAD |
|
|
rs766924878 CA6247414 |
560 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs1162231048 CA382203109 |
564 | R>K | No |
ClinGen gnomAD |
|
|
rs755635443 CA6247416 |
565 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA382203169 rs1318500692 |
567 | E>D | No |
ClinGen TOPMed |
|
|
rs1037930222 CA227290220 |
569 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs753411392 CA6247418 |
570 | T>I | No |
ClinGen ExAC gnomAD |
|
|
COSM216932 CA227290222 rs1009099315 |
575 | M>V | liver [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
CA6247419 rs756993758 |
577 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA382203457 rs1565340831 |
580 | S>A | No |
ClinGen Ensembl |
|
|
CA382203466 rs1591545977 |
580 | S>F | No |
ClinGen Ensembl |
|
|
CA6247420 rs778569149 |
584 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs141940436 CA6247422 |
585 | P>L | No |
ClinGen ESP ExAC gnomAD |
|
|
CA6247421 rs745599708 |
585 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1332975912 CA382203617 |
587 | G>S | No |
ClinGen gnomAD |
|
|
CA382203663 rs1215922246 |
589 | L>R | No |
ClinGen gnomAD |
|
|
rs768585705 CA6247425 |
590 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6247424 rs201982932 |
590 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA382203832 rs1186232541 |
596 | A>T | No |
ClinGen gnomAD |
|
|
rs1035847344 CA227290282 |
596 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA382203895 rs1422231630 |
598 | S>F | No |
ClinGen TOPMed |
|
|
CA382204037 rs1474110799 |
604 | I>F | No |
ClinGen TOPMed |
|
|
CA6247431 rs766871379 |
607 | G>C | No |
ClinGen ExAC gnomAD |
|
|
CA382204146 rs1241026731 |
607 | G>D | No |
ClinGen TOPMed |
|
|
rs766871379 CA382204144 |
607 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA6247432 rs150668897 |
608 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA382204211 rs758733850 |
609 | I>M | No |
ClinGen TOPMed |
|
|
rs866625955 CA227290317 |
609 | I>S | No |
ClinGen Ensembl |
|
|
rs1312166742 CA382204221 |
610 | K>T | No |
ClinGen gnomAD |
|
|
rs1235417104 CA382204317 |
614 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA227290328 rs996265467 |
614 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
CA382204390 rs1591546070 |
617 | L>V | No |
ClinGen Ensembl |
|
|
CA382204439 rs1262946255 |
618 | S>C | No |
ClinGen gnomAD |
No associated diseases with Q13490
6 regional properties for Q13490
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | CARD domain | 453 - 543 | IPR001315 |
| repeat | BIR repeat | 44 - 115 | IPR001370-1 |
| repeat | BIR repeat | 182 - 252 | IPR001370-2 |
| repeat | BIR repeat | 267 - 338 | IPR001370-3 |
| domain | Zinc finger, RING-type | 571 - 606 | IPR001841 |
| domain | BIRC2/BIRC3, UBA domain | 391 - 437 | IPR041933 |
Functions
| Description | ||
|---|---|---|
| EC Number | 2.3.2.27 | Aminoacyltransferases |
| Subcellular Localization |
|
|
| PANTHER Family | PTHR10044 | INHIBITOR OF APOPTOSIS |
| PANTHER Subfamily | PTHR10044:SF79 | BACULOVIRAL IAP REPEAT-CONTAINING PROTEIN 2 |
| PANTHER Protein Class | protease inhibitor | |
| PANTHER Pathway Category |
CCKR signaling map BIRC2 Apoptosis signaling pathway c-IAP1,2 |
|
7 GO annotations of cellular component
| Name | Definition |
|---|---|
| CD40 receptor complex | A protein complex that contains at least CD40 (a cell surface receptor of the tumour necrosis factor receptor (TNFR) superfamily), and other signaling molecules. |
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| cytoplasmic side of plasma membrane | The leaflet the plasma membrane that faces the cytoplasm and any proteins embedded or anchored in it or attached to its surface. |
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| membrane raft | Any of the small (10-200 nm), heterogeneous, highly dynamic, sterol- and sphingolipid-enriched membrane domains that compartmentalize cellular processes. Small rafts can sometimes be stabilized to form larger platforms through protein-protein and protein-lipid interactions. |
| 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. |
| XY body | A structure found in a male mammalian spermatocyte containing an unpaired X chromosome that has become densely heterochromatic, silenced and localized at the nuclear periphery. |
12 GO annotations of molecular function
| Name | Definition |
|---|---|
| chaperone binding | Binding to a chaperone protein, a class of proteins that bind to nascent or unfolded polypeptides and ensure correct folding or transport. |
| cysteine-type endopeptidase inhibitor activity involved in apoptotic process | Binds to and stops, prevents or reduces the activity of a cysteine-type endopeptidase involved in the apoptotic process. |
| FBXO family protein binding | Binding to a member of the FBXO protein family. Members of this family have an F-box protein motif of approximately 50 amino acids that functions as a site of protein-protein interaction. |
| identical protein binding | Binding to an identical protein or proteins. |
| protein N-terminus binding | Binding to a protein N-terminus, the end of any peptide chain at which the 2-amino (or 2-imino) function of a constituent amino acid is not attached in peptide linkage to another amino-acid residue. |
| protein-containing complex binding | Binding to a macromolecular complex. |
| 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. |
| transferase activity | Catalysis of the transfer of a group, e.g. a methyl group, glycosyl group, acyl group, phosphorus-containing, or other groups, from one compound (generally regarded as the donor) to another compound (generally regarded as the acceptor). Transferase is the systematic name for any enzyme of EC class 2. |
| ubiquitin binding | Binding to ubiquitin, a protein that when covalently bound to other cellular proteins marks them for proteolytic degradation. |
| ubiquitin protein ligase activity | Catalysis of the transfer of ubiquitin to a substrate protein via the reaction X-ubiquitin + S -> X + S-ubiquitin, where X is either an E2 or E3 enzyme, the X-ubiquitin linkage is a thioester bond, and the S-ubiquitin linkage is an amide bond: an isopeptide bond between the C-terminal glycine of ubiquitin and the epsilon-amino group of lysine residues in the substrate or, in the linear extension of ubiquitin chains, a peptide bond the between the C-terminal glycine and N-terminal methionine of ubiquitin residues. |
| ubiquitin-protein transferase activity | Catalysis of the transfer of ubiquitin from one protein to another via the reaction X-Ub + Y --> Y-Ub + X, where both X-Ub and Y-Ub are covalent linkages. |
| zinc ion binding | Binding to a zinc ion (Zn). |
32 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. |
| I-kappaB kinase/NF-kappaB signaling | The process in which a signal is passed on to downstream components within the cell through the I-kappaB-kinase (IKK)-dependent activation of NF-kappaB. The cascade begins with activation of a trimeric IKK complex (consisting of catalytic kinase subunits IKKalpha and/or IKKbeta, and the regulatory scaffold protein NEMO) and ends with the regulation of transcription of target genes by NF-kappaB. In a resting state, NF-kappaB dimers are bound to I-kappaB proteins, sequestering NF-kappaB in the cytoplasm. Phosphorylation of I-kappaB targets I-kappaB for ubiquitination and proteasomal degradation, thus releasing the NF-kappaB dimers, which can translocate to the nucleus to bind DNA and regulate transcription. |
| necroptotic process | A programmed necrotic cell death process which begins when a cell receives a signal (e.g. a ligand binding to a death receptor or to a Toll-like receptor), and proceeds through a series of biochemical events (signaling pathways), characterized by activation of receptor-interacting serine/threonine-protein kinase 1 and/or 3 (RIPK1/3, also called RIP1/3) and by critical dependence on mixed lineage kinase domain-like (MLKL), and which typically lead to common morphological features of necrotic cell death. The process ends when the cell has died. The process is divided into a signaling phase, and an execution phase, which is triggered by the former. |
| negative regulation of apoptotic process | Any process that stops, prevents, or reduces the frequency, rate or extent of cell death by apoptotic process. |
| negative regulation of necroptotic process | Any process that decreases the rate, frequency or extent of a necroptotic process, a necrotic cell death process that results from the activation of endogenous cellular processes, such as signaling involving death domain receptors or Toll-like receptors. |
| negative regulation of ripoptosome assembly involved in necroptotic process | Any process that stops, prevents or reduces the frequency, rate or extent of ripoptosome assembly involved in a necroptotic process. |
| NIK/NF-kappaB signaling | The process in which a signal is passed on to downstream components within the cell through the NIK-dependent processing and activation of NF-KappaB. Begins with activation of the NF-KappaB-inducing kinase (NIK), which in turn phosphorylates and activates IkappaB kinase alpha (IKKalpha). IKKalpha phosphorylates the NF-Kappa B2 protein (p100) leading to p100 processing and release of an active NF-KappaB (p52). |
| placenta development | The process whose specific outcome is the progression of the placenta over time, from its formation to the mature structure. The placenta is an organ of metabolic interchange between fetus and mother, partly of embryonic origin and partly of maternal origin. |
| positive regulation of I-kappaB kinase/NF-kappaB signaling | Any process that activates or increases the frequency, rate or extent of I-kappaB kinase/NF-kappaB signaling. |
| positive regulation of protein K48-linked ubiquitination | Any process that activates or increases the frequency, rate or extent of protein K48-linked ubiquitination. |
| positive regulation of protein K63-linked ubiquitination | Any process that activates or increases the frequency, rate or extent of protein K63-linked ubiquitination. |
| positive regulation of protein monoubiquitination | Any process that activates or increases the frequency, rate or extent of protein monoubiquitination. |
| positive regulation of protein ubiquitination | Any process that activates or increases the frequency, rate or extent of the addition of ubiquitin groups to a protein. |
| proteasome-mediated ubiquitin-dependent protein catabolic process | The chemical reactions and pathways resulting in the breakdown of a protein or peptide by hydrolysis of its peptide bonds, initiated by the covalent attachment of ubiquitin, and mediated by the proteasome. |
| protein polyubiquitination | Addition of multiple ubiquitin groups to a protein, forming a ubiquitin chain. |
| regulation of apoptotic process | Any process that modulates the occurrence or rate of cell death by apoptotic process. |
| regulation of cell cycle | Any process that modulates the rate or extent of progression through the cell cycle. |
| regulation of cell differentiation | Any process that modulates the frequency, rate or extent of cell differentiation, the process in which relatively unspecialized cells acquire specialized structural and functional features. |
| regulation of cell population proliferation | Any process that modulates the frequency, rate or extent of cell proliferation. |
| regulation of cysteine-type endopeptidase activity | Any process that modulates the frequency, rate or extent of cysteine-type endopeptidase activity. |
| regulation of inflammatory response | Any process that modulates the frequency, rate or extent of the inflammatory response, the immediate defensive reaction (by vertebrate tissue) to infection or injury caused by chemical or physical agents. |
| regulation of innate immune response | Any process that modulates the frequency, rate or extent of the innate immune response, the organism's first line of defense against infection. |
| regulation of necroptotic process | Any process that modulates the rate, frequency or extent of a necroptotic process, a necrotic cell death process that results from the activation of endogenous cellular processes, such as signaling involving death domain receptors or Toll-like receptors. |
| regulation of NIK/NF-kappaB signaling | Any process that modulates the frequency, rate or extent of NIK/NF-kappaB signaling. |
| regulation of nucleotide-binding oligomerization domain containing signaling pathway | Any process that modulates the frequency, rate, or extent of a nucleotide-binding oligomerization domain containing (NOD) pathway. |
| regulation of reactive oxygen species metabolic process | Any process that modulates the frequency, rate or extent of reactive oxygen species metabolic process. |
| regulation of RIG-I signaling pathway | Any process that modulates the frequency, rate or extent of the RIG-I signaling pathway. |
| regulation of toll-like receptor signaling pathway | Any process that modulates the frequency, rate, or extent of toll-like receptor signaling pathway. |
| response to cAMP | Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a cAMP (cyclic AMP, adenosine 3',5'-cyclophosphate) stimulus. |
| response to ethanol | Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an ethanol stimulus. |
| response to hypoxia | Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus indicating lowered oxygen tension. Hypoxia, defined as a decline in O2 levels below normoxic levels of 20.8 - 20.95%, results in metabolic adaptation at both the cellular and organismal level. |
| 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. |
7 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q90660 | ITA | Inhibitor of apoptosis protein | Gallus gallus (Chicken) | SS |
| A1E2V0 | BIRC3 | Baculoviral IAP repeat-containing protein 3 | Canis lupus familiaris (Dog) (Canis familiaris) | SS |
| Q13489 | BIRC3 | Baculoviral IAP repeat-containing protein 3 | Homo sapiens (Human) | SS |
| Q96P09 | BIRC8 | Baculoviral IAP repeat-containing protein 8 | Homo sapiens (Human) | PR |
| O08863 | Birc3 | Baculoviral IAP repeat-containing protein 3 | Mus musculus (Mouse) | SS |
| Q62210 | Birc2 | Baculoviral IAP repeat-containing protein 2 | Mus musculus (Mouse) | SS |
| O62640 | PIAP | Putative inhibitor of apoptosis | Sus scrofa (Pig) | SS |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MHKTASQRLF | PGPSYQNIKS | IMEDSTILSD | WTNSNKQKMK | YDFSCELYRM | STYSTFPAGV |
| 70 | 80 | 90 | 100 | 110 | 120 |
| PVSERSLARA | GFYYTGVNDK | VKCFCCGLML | DNWKLGDSPI | QKHKQLYPSC | SFIQNLVSAS |
| 130 | 140 | 150 | 160 | 170 | 180 |
| LGSTSKNTSP | MRNSFAHSLS | PTLEHSSLFS | GSYSSLSPNP | LNSRAVEDIS | SSRTNPYSYA |
| 190 | 200 | 210 | 220 | 230 | 240 |
| MSTEEARFLT | YHMWPLTFLS | PSELARAGFY | YIGPGDRVAC | FACGGKLSNW | EPKDDAMSEH |
| 250 | 260 | 270 | 280 | 290 | 300 |
| RRHFPNCPFL | ENSLETLRFS | ISNLSMQTHA | ARMRTFMYWP | SSVPVQPEQL | ASAGFYYVGR |
| 310 | 320 | 330 | 340 | 350 | 360 |
| NDDVKCFCCD | GGLRCWESGD | DPWVEHAKWF | PRCEFLIRMK | GQEFVDEIQG | RYPHLLEQLL |
| 370 | 380 | 390 | 400 | 410 | 420 |
| STSDTTGEEN | ADPPIIHFGP | GESSSEDAVM | MNTPVVKSAL | EMGFNRDLVK | QTVQSKILTT |
| 430 | 440 | 450 | 460 | 470 | 480 |
| GENYKTVNDI | VSALLNAEDE | KREEEKEKQA | EEMASDDLSL | IRKNRMALFQ | QLTCVLPILD |
| 490 | 500 | 510 | 520 | 530 | 540 |
| NLLKANVINK | QEHDIIKQKT | QIPLQARELI | DTILVKGNAA | ANIFKNCLKE | IDSTLYKNLF |
| 550 | 560 | 570 | 580 | 590 | 600 |
| VDKNMKYIPT | EDVSGLSLEE | QLRRLQEERT | CKVCMDKEVS | VVFIPCGHLV | VCQECAPSLR |
| 610 | |||||
| KCPICRGIIK | GTVRTFLS |