Q9BZF1
PR
Gene name |
OSBPL8 (KIAA1451, ORP8, OSBP10) |
Protein name |
Oxysterol-binding protein-related protein 8 |
Names |
ORP-8, OSBP-related protein 8 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:114882 |
EC number |
|
Protein Class |
|
Descriptions
The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.
Autoinhibitory domains (AIDs)
Target domain |
|
Relief mechanism |
|
Assay |
cis-regPred |
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
5 structures for Q9BZF1
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 1V88 | NMR | - | A | 149-265 | PDB |
| 5U77 | X-ray | 216 A | A | 149-265 | PDB |
| 5U78 | X-ray | 198 A | A/B/C/D | 149-265 | PDB |
| 8P7A | X-ray | 256 A | A/B | 411-791 | PDB |
| AF-Q9BZF1-F1 | Predicted | AlphaFoldDB |
500 variants for Q9BZF1
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA6695215 rs750843682 |
2 | E>A | No |
ClinGen ExAC |
|
|
rs765629902 CA385817790 |
2 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA6695213 rs149974616 |
3 | G>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1388843720 CA385817775 |
4 | G>S | No |
ClinGen TOPMed |
|
|
rs1308338094 CA385817738 |
6 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA385817728 rs1261231742 |
7 | D>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1268124913 CA385817672 |
11 | D>N | No |
ClinGen TOPMed |
|
|
CA385817667 rs1219581813 |
11 | D>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1040743401 CA239376858 |
12 | R>* | No |
ClinGen TOPMed gnomAD |
|
|
COSM3417157 CA6695212 rs753469138 |
12 | R>Q | large_intestine Variant assessed as Somatic; 4.654e-05 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA6695210 rs142756436 |
14 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 15 | L>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6695183 rs139460201 |
16 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6695182 rs529286448 |
16 | L>H | No |
ClinGen ExAC gnomAD |
|
|
rs762849379 CA6695181 |
17 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs1182806186 CA385815297 |
18 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
CA385815300 rs1411490276 |
18 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
CA6695180 rs772858797 |
19 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA6695179 rs768920372 |
19 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs1196372590 CA385815263 |
21 | D>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1223123046 CA385815205 |
26 | S>* | No |
ClinGen gnomAD |
|
|
rs1592719908 CA385815202 |
27 | T>A | No |
ClinGen Ensembl |
|
|
rs1487232153 CA385813415 |
28 | V>L | No |
ClinGen gnomAD |
|
|
CA385813376 rs1565907167 |
30 | A>T | No |
ClinGen Ensembl |
|
|
rs766385777 CA6695164 |
31 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA239350245 rs563305820 |
32 | S>G | No |
ClinGen Ensembl |
|
|
CA385813335 rs1244483060 |
32 | S>N | No |
ClinGen TOPMed |
|
|
CA6695162 rs200979388 |
34 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 35 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA385813293 rs1238387803 |
35 | S>T | No |
ClinGen gnomAD |
|
|
CA385813221 rs1302268698 |
41 | G>E | No |
ClinGen gnomAD |
|
|
CA239350240 rs866834233 |
41 | G>R | No |
ClinGen Ensembl |
|
|
rs1388698277 CA385813213 |
42 | K>E | No |
ClinGen gnomAD |
|
|
CA385813177 rs1314099769 |
44 | S>T | No |
ClinGen gnomAD |
|
|
rs760900841 CA6695160 |
46 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs778521247 CA6695159 |
46 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs745998688 CA6695157 |
49 | K>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1019475721 CA239350225 |
51 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
CA385813090 rs1019475721 |
51 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA6695155 rs372961767 |
54 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs774283669 CA6695156 |
54 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs141783724 CA6695152 |
56 | T>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA239350191 rs1032550332 |
57 | K>R | No |
ClinGen Ensembl |
|
|
CA6695151 rs747837718 |
58 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs1203848498 CA385812997 |
59 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA385812988 rs1372488790 |
60 | H>R | No |
ClinGen TOPMed |
|
|
rs1235715945 CA385812967 |
62 | P>T | No |
ClinGen gnomAD |
|
|
CA385812940 rs1185425274 |
63 | S>F | No |
ClinGen gnomAD |
|
|
CA6695146 rs758356423 |
64 | L>I | No |
ClinGen ExAC gnomAD |
|
|
rs1444263619 CA385812930 |
64 | L>P | No |
ClinGen gnomAD |
|
|
rs758356423 CA6695147 |
64 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA385812923 rs1400659878 |
65 | S>R | No |
ClinGen gnomAD |
|
|
rs550081101 CA6695145 |
66 | P>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs138597334 CA6695144 |
67 | A>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1381539543 CA385812868 |
70 | H>P | No |
ClinGen gnomAD |
|
|
CA6695143 rs533591401 |
71 | S>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs753597490 CA6695142 |
72 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs1174058361 CA385812840 |
72 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
CA385812829 rs1428163934 |
73 | G>C | No |
ClinGen gnomAD |
|
|
CA385815666 rs1345496468 |
74 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
rs748831427 CA239336767 |
80 | D>G | No |
ClinGen Ensembl |
|
| TCGA novel | 80 | D>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 82 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA385815590 rs1318055809 |
83 | Q>* | No |
ClinGen gnomAD |
|
|
CA385815589 rs1227255359 |
83 | Q>R | No |
ClinGen gnomAD |
|
|
rs1174431125 CA385815560 |
86 | D>E | No |
ClinGen gnomAD |
|
|
CA6695106 rs774965276 |
86 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA385815547 rs1439513227 |
88 | S>T | No |
ClinGen TOPMed |
|
|
rs745430475 CA6695104 |
92 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA385815479 rs1241365340 |
96 | K>E | No |
ClinGen gnomAD |
|
|
rs781038727 CA6695078 |
97 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs1170859963 CA385814497 |
99 | S>P | No |
ClinGen TOPMed |
|
|
rs758695840 CA6695077 |
100 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1460512139 CA385814364 |
105 | S>* | No |
ClinGen gnomAD |
|
| TCGA novel | 109 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA385814301 rs1353966177 |
109 | S>T | No |
ClinGen gnomAD |
|
|
CA6695075 rs761573913 |
113 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA385814214 rs1426403636 |
113 | S>R | No |
ClinGen gnomAD |
|
|
CA385814167 rs1182743750 |
115 | L>H | No |
ClinGen gnomAD |
|
|
CA385814177 rs1383211096 |
115 | L>I | No |
ClinGen gnomAD |
|
|
CA385814160 rs753921979 |
116 | T>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6695073 rs753921979 |
116 | T>R | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 119 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6695071 rs761228743 |
119 | E>K | No |
ClinGen ExAC gnomAD |
|
| rs1565866961 | 119 | E>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1406709316 CA385814041 |
121 | L>R | No |
ClinGen TOPMed |
|
|
rs1023130700 CA239333579 |
123 | V>I | No |
ClinGen TOPMed |
|
|
CA239333574 rs77898164 |
124 | Q>K | No |
ClinGen Ensembl |
|
|
rs748049144 CA6695060 |
136 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1346911169 CA385813646 |
137 | K>R | No |
ClinGen TOPMed |
|
| TCGA novel | 138 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 142 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1256787844 CA385813530 |
146 | P>S | No |
ClinGen TOPMed |
|
|
rs1225401224 CA385813485 |
150 | V>I | No |
ClinGen gnomAD |
|
|
rs779316678 CA6695056 |
152 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1592606453 CA385813443 |
153 | D>G | No |
ClinGen Ensembl |
|
|
rs1302504992 CA385813449 |
153 | D>N | No |
ClinGen gnomAD |
|
|
CA385813438 rs1400462114 |
154 | W>R | No |
ClinGen gnomAD |
|
|
rs866552441 COSM943549 CA239332828 |
158 | R>C | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
| TCGA novel | 160 | T>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 165 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA239332822 rs767258114 |
167 | L>* | No |
ClinGen Ensembl |
|
|
rs1316224289 CA385812278 |
168 | W>* | No |
ClinGen TOPMed |
|
|
rs771344329 CA6695036 |
170 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1476048244 CA385812114 |
179 | Y>C | No |
ClinGen gnomAD |
|
| TCGA novel | 184 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6695033 rs545922053 |
184 | N>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 188 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1428324286 CA385811879 |
192 | L>I | No |
ClinGen gnomAD |
|
|
rs752689541 CA6695032 |
195 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1460139249 CA385811760 |
199 | I>F | No |
ClinGen gnomAD |
|
|
CA385811714 COSM1476944 rs1273524556 |
201 | R>H | Variant assessed as Somatic; impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
rs1439058094 CA385811684 |
204 | K>E | No |
ClinGen gnomAD |
|
|
CA385811675 rs1341447561 |
204 | K>R | No |
ClinGen gnomAD |
|
| TCGA novel | 206 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1565862421 CA385811465 |
217 | E>D | No |
ClinGen Ensembl |
|
|
rs762529213 CA6695027 |
219 | S>Y | No |
ClinGen ExAC gnomAD |
|
|
rs750040418 CA6695026 |
220 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1243755251 CA385811411 |
221 | W>S | No |
ClinGen TOPMed |
|
|
rs1565862364 CA385811403 |
222 | A>P | No |
ClinGen Ensembl |
|
|
CA385810419 rs1161169920 |
225 | G>V | No |
ClinGen gnomAD |
|
|
CA6695004 rs756845788 |
228 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA239332115 rs188701557 |
229 | E>A | No |
ClinGen 1000Genomes |
|
| TCGA novel | 231 | V>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6695002 rs763628424 |
233 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs1337249914 CA385810283 |
234 | I>V | No |
ClinGen TOPMed |
|
|
CA6695001 rs760700318 |
235 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA6694998 rs759424425 |
248 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1490506323 CA385809952 |
251 | S>T | No |
ClinGen gnomAD |
|
|
rs759390128 CA6694979 |
258 | D>V | No |
ClinGen ExAC gnomAD |
|
|
rs374895551 CA6694977 |
263 | A>S | No |
ClinGen 1000Genomes ESP ExAC gnomAD |
|
|
rs374895551 CA6694978 |
263 | A>T | No |
ClinGen 1000Genomes ESP ExAC gnomAD |
|
|
CA385809603 rs1172691974 |
265 | K>E | No |
ClinGen TOPMed |
|
|
CA239331696 rs200981313 |
267 | S>C | No |
ClinGen Ensembl |
|
|
CA6694974 rs768830443 |
268 | S>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 269 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6694973 rs760790615 |
270 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs775415656 CA6694972 COSM431861 |
272 | R>C | breast [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs1236938206 CA385809490 |
272 | R>H | No |
ClinGen gnomAD |
|
|
CA385809454 rs1372868817 |
274 | M>I | No |
ClinGen TOPMed |
|
|
rs779349404 CA6694969 |
274 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA6694970 rs746292426 |
274 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1297099494 CA385809417 |
277 | E>K | No |
ClinGen gnomAD |
|
|
rs1328836024 CA385809412 |
277 | E>V | No |
ClinGen TOPMed |
|
|
CA385809348 rs1592590951 |
281 | H>R | No |
ClinGen Ensembl |
|
|
rs749640902 CA6694967 |
283 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA6694966 COSM196261 rs200132037 |
285 | V>I | large_intestine Variant assessed as Somatic; 4.621e-05 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1241263184 CA385809246 |
286 | S>* | No |
ClinGen gnomAD |
|
|
COSM1747251 rs1183844682 CA385809224 |
287 | S>L | urinary_tract [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs1462359826 CA385809191 |
289 | S>G | No |
ClinGen gnomAD |
|
|
CA6694965 rs755817460 |
289 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs1307511326 CA385809138 |
291 | H>R | No |
ClinGen gnomAD |
|
|
CA239331684 rs932499016 |
293 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
COSM1628851 rs1216795631 CA385809067 |
295 | Y>C | liver [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
rs147751916 CA6694963 |
298 | L>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1204135289 CA385809005 |
299 | R>C | No |
ClinGen TOPMed |
|
|
CA6694961 rs751407326 |
299 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766232059 CA6694959 |
302 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs377725826 CA6694957 |
303 | L>F | No |
ClinGen ESP ExAC TOPMed |
|
|
CA385808874 rs1170157325 |
304 | H>Q | No |
ClinGen TOPMed |
|
|
rs201967329 CA6694956 |
304 | H>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA385808864 rs1390380892 |
305 | S>T | No |
ClinGen TOPMed |
|
|
rs760880800 CA6694955 |
307 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1447244396 CA385808757 |
309 | F>L | No |
ClinGen gnomAD |
|
|
rs758315854 CA6694939 |
312 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA385808536 rs1486188852 |
312 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs750282504 CA6694938 |
317 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1203486900 CA385808098 |
318 | R>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA6694937 rs369334753 |
318 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA385808079 rs1351292807 |
320 | H>N | No |
ClinGen TOPMed |
|
|
rs767666932 CA6694933 |
321 | F>S | No |
ClinGen ExAC |
|
| TCGA novel | 325 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1296638502 CA385807996 |
326 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
rs765107751 CA239331294 |
329 | D>Y | No |
ClinGen Ensembl |
|
|
rs1485313494 CA385807932 |
332 | D>N | No |
ClinGen TOPMed |
|
|
CA6694932 rs759584362 |
332 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA239331289 rs1018308981 |
333 | K>T | No |
ClinGen Ensembl |
|
|
rs1234168662 CA385807898 |
334 | E>D | No |
ClinGen TOPMed |
|
|
CA6694930 rs767061749 |
335 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA239331281 rs547898016 |
336 | D>E | No |
ClinGen 1000Genomes |
|
|
CA239331284 rs767524717 |
336 | D>N | No |
ClinGen Ensembl |
|
|
rs758772443 CA6694928 |
337 | Q>I | No |
ClinGen ExAC |
|
|
rs763489514 CA6694929 |
337 | Q>K | No |
ClinGen ExAC TOPMed |
|
| TCGA novel | 338 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1007790427 CA239331277 |
340 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
CA6694927 rs773728999 |
345 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1349881805 CA385807787 |
346 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1175931187 CA385807734 |
353 | S>G | No |
ClinGen TOPMed |
|
|
CA6694925 rs747870800 |
358 | S>* | No |
ClinGen ExAC gnomAD |
|
|
rs1363541996 CA385807672 |
359 | E>K | No |
ClinGen gnomAD |
|
|
CA6694924 rs200245292 |
361 | Q>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA385807633 rs768329732 |
362 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA6694923 rs768329732 |
362 | D>V | No |
ClinGen ExAC gnomAD |
|
|
rs746554281 CA6694922 |
363 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs147109593 CA6694921 |
365 | Y>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6694920 rs745744982 |
367 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs745744982 CA6694919 |
367 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA239331258 rs879351912 |
368 | P>R | No |
ClinGen Ensembl |
|
| TCGA novel | 368 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6694918 rs778701741 |
371 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs756962048 CA6694917 |
375 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA239331250 rs1043084569 |
375 | K>R | No |
ClinGen Ensembl |
|
|
rs372527867 CA6694916 |
377 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6694915 rs767690216 |
378 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs766512637 CA6694912 |
379 | Y>C | No |
ClinGen ExAC |
|
|
CA6694911 rs201149042 |
380 | T>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA385807382 rs1460288163 |
383 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
CA239331238 rs757712259 |
385 | E>D | No |
ClinGen Ensembl |
|
| TCGA novel | 386 | E>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 388 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1328614019 CA385807313 |
389 | E>G | No |
ClinGen gnomAD |
|
|
rs755171018 CA6694897 |
394 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA6694895 rs780314165 |
397 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA385807160 rs1293147367 |
398 | T>N | No |
ClinGen gnomAD |
|
|
CA385807158 rs1293147367 |
398 | T>S | No |
ClinGen gnomAD |
|
|
rs1592584690 CA385807135 |
401 | E>K | No |
ClinGen Ensembl |
|
|
CA6694894 rs758595797 |
403 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA6694893 rs750512065 |
404 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs1400786162 CA385807070 |
406 | L>F | No |
ClinGen gnomAD |
|
|
rs1565853388 CA385807057 |
407 | I>T | No |
ClinGen Ensembl |
|
|
rs1172532747 CA385807062 |
407 | I>V | No |
ClinGen gnomAD |
|
|
rs1167097912 CA385806985 |
413 | Q>* | No |
ClinGen gnomAD |
|
|
rs1449157972 COSM1364267 CA385806959 |
415 | R>C | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs1399481456 CA385806957 |
415 | R>H | No |
ClinGen TOPMed |
|
|
CA385806955 rs1399481456 |
415 | R>L | No |
ClinGen TOPMed |
|
|
rs1002843637 CA239331093 |
416 | P>A | No |
ClinGen Ensembl |
|
|
rs764459057 CA6694889 |
418 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA6694888 rs760341105 |
419 | D>Y | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 427 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1320167811 CA385806759 |
432 | P>S | No |
ClinGen gnomAD |
|
|
CA6694885 rs759104556 |
433 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773847407 CA385806740 |
435 | F>C | No |
ClinGen ExAC gnomAD |
|
|
rs773847407 CA6694884 |
435 | F>S | No |
ClinGen ExAC gnomAD |
|
|
rs770779353 CA6694883 |
436 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA385806716 rs1339420122 |
439 | L>V | No |
ClinGen gnomAD |
|
|
rs1328917245 CA385806685 |
443 | Y>C | No |
ClinGen gnomAD |
|
|
CA6694882 rs548125644 |
444 | Y>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs777454328 CA6694881 |
446 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA6694879 rs747923909 |
448 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769595077 CA6694880 |
448 | F>V | No |
ClinGen ExAC gnomAD |
|
|
rs1386210119 CA385806646 |
449 | L>V | No |
ClinGen gnomAD |
|
| TCGA novel | 451 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 451 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs747901774 CA239329961 |
452 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA385806549 rs1270870454 |
452 | A>V | No |
ClinGen gnomAD |
|
|
CA385806547 rs1219096095 |
453 | A>T | No |
ClinGen gnomAD |
|
|
CA6694854 rs772424497 |
454 | L>F | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 457 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1206488473 CA385806447 |
461 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA385806444 rs1326487457 |
461 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA6694852 rs778878248 |
462 | L>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6694851 rs757317528 |
464 | K>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 468 | W>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 473 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6694849 rs778393898 |
474 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA6694848 rs756609591 |
478 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs753065030 CA6694847 |
478 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA6694830 rs371972123 |
480 | L>P | No |
ClinGen ESP ExAC gnomAD |
|
|
CA385806175 rs371972123 |
480 | L>Q | No |
ClinGen ESP ExAC gnomAD |
|
|
rs557555315 CA6694828 |
487 | I>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 488 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 488 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1348170048 CA385806114 |
489 | G>D | No |
ClinGen TOPMed |
|
|
CA385806111 rs1386010557 |
490 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA6694826 COSM1639256 rs368075869 |
493 | R>C | stomach [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs1327585686 CA385806087 |
493 | R>H | No |
ClinGen gnomAD |
|
|
rs774672495 CA6694825 |
495 | L>* | No |
ClinGen ExAC gnomAD |
|
|
rs749442933 CA6694823 |
496 | W>* | No |
ClinGen ExAC gnomAD |
|
|
CA239329764 rs866037185 |
496 | W>C | No |
ClinGen Ensembl |
|
| TCGA novel | 498 | H>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs896484755 CA239329754 |
501 | T>R | No |
ClinGen Ensembl |
|
|
rs371602634 CA6694819 |
504 | K>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1462289424 CA385806002 |
505 | T>I | No |
ClinGen gnomAD |
|
|
CA385805988 rs1235189924 |
507 | Y>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 507 | Y>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA385805972 rs1208698899 |
510 | E>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA385805913 rs1207874779 |
512 | V>L | No |
ClinGen gnomAD |
|
|
rs549365342 CA239329175 |
513 | S>C | No |
ClinGen 1000Genomes |
|
|
CA6694802 rs564876707 |
518 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6694801 rs781703112 |
519 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs747478847 CA6694799 |
522 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs1290167099 CA385805758 |
525 | N>D | No |
ClinGen gnomAD |
|
|
rs780212255 CA6694798 |
525 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA385805686 rs1369769889 |
531 | C>Y | No |
ClinGen gnomAD |
|
|
rs758080168 CA6694797 |
532 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758080168 CA385805678 |
532 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs374299664 CA6694794 |
534 | G>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6694795 rs374299664 |
534 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs201177828 COSM431860 CA6694793 |
534 | G>V | adrenal_gland endometrium breast [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs1419187909 CA385805624 |
536 | I>T | No |
ClinGen gnomAD |
|
|
CA385805586 rs1471880115 |
540 | S>P | No |
ClinGen gnomAD |
|
|
CA385805543 rs1192125931 |
544 | G>R | No |
ClinGen gnomAD |
|
|
rs1235266892 CA385805167 |
546 | S>A | No |
ClinGen gnomAD |
|
|
rs777360023 CA6694768 |
556 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1302841526 CA385805028 |
556 | R>W | No |
ClinGen gnomAD |
|
|
rs756099470 CA6694767 |
557 | L>I | No |
ClinGen ExAC gnomAD |
|
|
rs986690705 CA239326841 |
561 | N>S | No |
ClinGen TOPMed |
|
|
CA6694766 rs752536335 |
567 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200974434 CA239326837 |
568 | M>I | No |
ClinGen Ensembl |
|
|
rs767456673 CA6694765 |
569 | T>A | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 572 | Y>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA239326827 rs895298688 |
573 | A>T | No |
ClinGen TOPMed |
|
| TCGA novel | 578 | I>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1204048721 CA385803763 |
579 | L>I | No |
ClinGen TOPMed gnomAD |
|
|
CA6694744 rs754901930 |
580 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs1285503345 CA385803707 |
582 | T>A | No |
ClinGen gnomAD |
|
|
CA6694743 rs751356913 |
583 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA385803654 rs1339331281 |
584 | T>A | No |
ClinGen gnomAD |
|
|
CA239325801 rs1024395691 |
587 | L>F | No |
ClinGen TOPMed |
|
|
rs766101226 CA6694742 |
588 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs757497591 CA6694741 |
590 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs764348869 CA6694739 |
592 | N>S | No |
ClinGen ExAC |
|
| TCGA novel | 593 | I>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1429416398 CA385803534 |
593 | I>V | No |
ClinGen gnomAD |
|
|
CA6694738 rs760718687 |
594 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs572444793 CA6694737 |
595 | C>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs376319334 CA6694736 |
601 | S>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs760053944 CA6694735 |
602 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA385803389 rs1392814170 |
603 | I>T | No |
ClinGen TOPMed |
|
|
CA6694734 rs774869746 |
603 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA385803380 rs1181168986 |
604 | L>F | No |
ClinGen gnomAD |
|
|
CA385803325 rs1451905068 |
608 | L>P | No |
ClinGen gnomAD |
|
|
rs1370509032 CA385802719 |
610 | P>A | No |
ClinGen gnomAD |
|
|
rs773619766 CA6694711 |
613 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 614 | S>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs146292404 CA6694710 |
616 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs761467757 CA6694709 |
617 | C>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA385802590 rs1565836194 |
620 | Q>R | No |
ClinGen Ensembl |
|
|
CA6694707 rs768118556 |
621 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs1188487463 CA385802579 |
621 | I>V | No |
ClinGen TOPMed |
|
|
CA6694706 rs532774692 |
624 | K>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA385802486 rs1313794604 |
629 | K>E | No |
ClinGen gnomAD |
|
|
CA6694705 rs780018640 |
634 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs1463176591 CA385802345 |
638 | H>R | No |
ClinGen gnomAD |
|
|
rs1181920276 CA385802068 |
641 | S>N | No |
ClinGen gnomAD |
|
|
CA6694694 rs767057550 |
642 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA385802035 rs1269301916 |
643 | V>I | No |
ClinGen Ensembl |
|
| TCGA novel | 644 | F>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 644 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA239324664 rs1034770047 |
650 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA6694692 rs750762790 |
651 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA385801786 rs1207647734 |
654 | E>* | No |
ClinGen gnomAD |
|
|
rs1340286395 CA385801782 |
654 | E>G | No |
ClinGen gnomAD |
|
|
CA239324661 rs990974673 |
655 | V>I | No |
ClinGen TOPMed |
|
|
CA6694691 rs370762001 |
658 | N>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA239324658 rs1035101887 |
661 | P>L | No |
ClinGen Ensembl |
|
|
rs1269945790 CA385801665 |
661 | P>T | No |
ClinGen TOPMed |
|
|
rs1437085336 CA385801618 |
664 | K>E | No |
ClinGen gnomAD |
|
|
CA6694689 rs776389454 |
665 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA385801587 rs1293066992 |
666 | W>R | No |
ClinGen TOPMed |
|
|
rs760238771 CA6694687 |
669 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA385801523 rs1220301772 |
671 | H>Y | No |
ClinGen TOPMed |
|
|
rs1265644960 CA385801511 |
672 | T>A | No |
ClinGen TOPMed |
|
|
CA385801468 rs1353573518 |
675 | F>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1473621114 CA385801421 |
678 | Q>R | No |
ClinGen TOPMed |
|
|
CA385801404 rs1592541413 |
679 | G>E | No |
ClinGen Ensembl |
|
|
rs1164953663 CA385801411 |
679 | G>R | No |
ClinGen gnomAD |
|
|
rs745762029 CA6694684 |
681 | F>S | No |
ClinGen ExAC gnomAD |
|
|
CA6694683 rs778595809 |
684 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs148678277 CA6694662 |
686 | L>F | No |
ClinGen ESP ExAC gnomAD |
|
|
rs979831115 CA239346537 |
686 | L>R | No |
ClinGen TOPMed |
|
|
rs148678277 CA6694663 |
686 | L>V | No |
ClinGen ESP ExAC gnomAD |
|
|
rs369737536 CA6694661 TCGA novel |
687 | W>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ESP ExAC TOPMed gnomAD NCI-TCGA |
|
CA6694660 rs773072459 |
688 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs142360589 CA6694658 |
689 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs142360589 CA6694657 |
689 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs994132627 CA239346523 |
689 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
CA385818660 rs926390221 |
692 | R>* | No |
ClinGen gnomAD |
|
|
rs926390221 CA239346511 |
692 | R>G | No |
ClinGen gnomAD |
|
|
CA6694656 rs571718491 |
692 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA385818655 rs1323201119 |
693 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
CA239346508 rs781480205 |
694 | I>V | No |
ClinGen Ensembl |
|
|
rs779534668 CA6694654 |
695 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs757703667 CA6694653 |
696 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6694652 rs754208290 |
698 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6694650 rs149507464 |
707 | Y>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs138058442 CA6694649 |
708 | V>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA385818545 rs1485496922 |
709 | L>S | No |
ClinGen gnomAD |
|
|
rs767054453 CA6694648 |
711 | E>D | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 712 | A>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA385818526 rs759143633 |
712 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759143633 CA6694647 |
712 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 712 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1310180311 CA385818496 |
716 | A>T | No |
ClinGen gnomAD |
|
|
rs773727707 CA6694646 |
718 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs566035076 CA6694644 |
719 | D>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs566035076 CA6694645 |
719 | D>Y | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs773160588 CA6694643 |
720 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA385818473 rs1366794081 |
720 | R>W | No |
ClinGen gnomAD |
|
|
CA385818448 rs1381076309 |
724 | N>H | No |
ClinGen TOPMed gnomAD |
|
|
rs763372011 CA6694642 |
727 | W>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs199664136 CA6694641 |
729 | C>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA385818403 rs1373974574 |
730 | K>Q | No |
ClinGen gnomAD |
|
|
CA6694640 rs775834009 |
738 | T>A | No |
ClinGen ExAC |
|
|
rs746029341 CA6694638 |
743 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs1592537036 CA385818289 |
744 | K>N | No |
ClinGen Ensembl |
|
|
rs1336391010 CA385818275 |
745 | F>L | No |
ClinGen gnomAD |
|
|
rs778794377 CA6694637 |
746 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA385818264 rs1235799182 |
747 | D>N | No |
ClinGen TOPMed |
|
|
CA385818203 rs1592535915 |
748 | T>N | No |
ClinGen Ensembl |
|
|
rs778309276 CA6694606 |
749 | R>* | No |
ClinGen ExAC gnomAD |
|
|
rs1159758526 CA385818197 |
749 | R>Q | No |
ClinGen gnomAD |
|
|
CA385818122 rs1361824643 |
756 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1592535820 CA385818105 |
757 | M>T | No |
ClinGen Ensembl |
|
|
CA6694604 rs144361127 |
757 | M>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs201756264 CA6694603 |
758 | I>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 759 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1268914842 CA385818082 |
759 | Q>R | No |
ClinGen gnomAD |
|
|
rs1211284431 CA385818039 |
762 | K>N | No |
ClinGen gnomAD |
|
|
rs751129414 CA6694601 |
763 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs372110891 CA6694602 |
763 | D>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA385818030 rs751129414 |
763 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs372110891 CA385818033 |
763 | D>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6694600 rs779721336 |
764 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6694598 rs369862379 |
766 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6694596 rs543516874 |
769 | K>R | Variant assessed as Somatic; 4.629e-05 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
CA6694595 rs543516874 |
769 | K>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA6694594 rs763749309 |
772 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs371899754 CA6694593 |
773 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA6694591 rs142715650 |
773 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6694592 rs142715650 |
773 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1592535612 CA385817953 |
775 | P>Q | No |
ClinGen Ensembl |
|
|
CA385817943 rs1224683890 |
776 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
CA385817948 rs1405601467 |
776 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
rs763086207 CA6694590 |
776 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA385817916 rs773301119 |
778 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs761917452 CA6694569 |
779 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs367592972 CA6694570 |
779 | V>I | Variant assessed as Somatic; 4.62e-05 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs777051946 CA6694568 |
781 | K>T | No |
ClinGen ExAC gnomAD |
|
|
CA385817872 rs1260123885 |
785 | K>E | No |
ClinGen gnomAD |
|
|
rs1592510860 CA385817861 |
786 | P>Q | No |
ClinGen Ensembl |
|
|
rs1186272117 CA385817855 |
787 | T>N | No |
ClinGen gnomAD |
|
|
rs747402426 CA6694567 |
788 | R>M | No |
ClinGen ExAC gnomAD |
|
|
CA6694566 rs747402426 |
788 | R>T | No |
ClinGen ExAC gnomAD |
|
|
CA6694564 rs138682078 |
791 | K>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6694563 rs745472849 |
792 | K>I | No |
ClinGen ExAC |
|
|
CA6694562 rs778598837 |
793 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs893830380 CA239341877 |
794 | A>T | No |
ClinGen Ensembl |
|
|
CA6694561 rs756757840 |
794 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748811629 CA6694560 |
795 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
CA239341867 rs374884641 |
796 | G>C | No |
ClinGen ESP TOPMed |
|
|
rs777630269 CA6694559 |
797 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777630269 CA385817768 |
797 | Y>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1291291517 CA385817704 |
802 | P>L | No |
ClinGen gnomAD |
|
|
rs1350826593 CA385817695 |
803 | D>G | No |
ClinGen gnomAD |
|
|
CA385817699 rs1244307432 |
803 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1592510603 CA385817669 |
805 | Q>* | No |
ClinGen Ensembl |
|
| TCGA novel | 805 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1029837099 CA239341855 |
805 | Q>P | No |
ClinGen TOPMed |
|
|
CA239341851 rs937292584 |
806 | D>E | No |
ClinGen Ensembl |
|
|
CA385817608 rs1299574246 |
810 | S>R | No |
ClinGen gnomAD |
|
|
CA385817598 rs1438212675 |
812 | A>T | No |
ClinGen TOPMed |
|
|
rs892212572 CA239341018 |
813 | Q>* | No |
ClinGen Ensembl |
|
|
CA239341015 rs1031969276 |
815 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs779068032 CA6694522 |
817 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1426006359 CA385817535 |
818 | S>C | No |
ClinGen TOPMed |
|
|
CA385817498 rs1486145574 |
823 | K>E | No |
ClinGen gnomAD |
|
|
rs753879376 CA6694520 |
823 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA239340993 rs554339513 |
825 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
CA239340997 rs1000453145 |
825 | I>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 826 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA239340985 rs753298180 |
830 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753298180 CA6694517 |
830 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs905464518 CA239340979 |
832 | S>R | No |
ClinGen TOPMed |
|
|
rs768116600 CA6694516 |
834 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA385817422 rs1363277645 |
835 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA6694514 rs774853326 |
837 | I>K | No |
ClinGen ExAC gnomAD |
|
|
CA385817399 rs145720655 |
838 | K>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6694513 rs145720655 |
838 | K>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6694512 rs762615818 |
840 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA385817350 rs1436808978 |
845 | K>E | No |
ClinGen gnomAD |
|
|
CA6694493 rs751890402 |
847 | N>H | No |
ClinGen ExAC gnomAD |
|
|
rs766725056 CA6694492 |
849 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs763195829 COSM943538 CA385817290 |
852 | R>* | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs763195829 CA6694491 |
852 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA6694490 rs191644576 |
852 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA385817286 rs1375674559 |
853 | N>D | No |
ClinGen gnomAD |
|
|
CA6694489 rs764779900 |
853 | N>T | No |
ClinGen ExAC gnomAD |
|
|
CA385817265 rs1168320821 |
856 | V>I | No |
ClinGen gnomAD |
|
|
CA385817251 rs1427838379 |
858 | S>G | No |
ClinGen gnomAD |
|
|
CA6694488 rs761377232 |
859 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6694487 rs780058499 |
860 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1189807121 CA385817238 |
860 | P>S | No |
ClinGen gnomAD |
|
|
rs746903096 CA6694485 |
862 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1249105633 CA385817222 |
863 | D>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs771946588 CA6694483 |
866 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA6694481 rs778115931 |
867 | Q>R | No |
ClinGen ExAC |
|
| TCGA novel | 868 | Q>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 870 | D>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs201208410 CA6694479 |
871 | Y>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1592504096 CA385817150 |
873 | I>L | No |
ClinGen Ensembl |
|
| TCGA novel | 874 | I>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1353900788 CA385817127 |
876 | L>V | No |
ClinGen gnomAD |
|
|
rs781370772 CA6694478 |
880 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755571453 CA6694477 |
882 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs1032020946 CA239340683 |
883 | I>V | No |
ClinGen TOPMed |
|
|
CA385817068 rs1296538468 |
885 | N>S | No |
ClinGen gnomAD |
|
|
rs569766867 CA6694474 |
887 | M>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs569766867 CA6694475 |
887 | M>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA385817037 rs1592503996 |
889 | K>R | No |
ClinGen Ensembl |
No associated diseases with Q9BZF1
Functions
8 GO annotations of cellular component
| Name | Definition |
|---|---|
| cortical endoplasmic reticulum | A cortical network of highly dynamic tubules that are juxtaposed to the plasma membrane and undergo ring closure and tubule-branching movements. |
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| endoplasmic reticulum | The irregular network of unit membranes, visible only by electron microscopy, that occurs in the cytoplasm of many eukaryotic cells. The membranes form a complex meshwork of tubular channels, which are often expanded into slitlike cavities called cisternae. The ER takes two forms, rough (or granular), with ribosomes adhering to the outer surface, and smooth (with no ribosomes attached). |
| endoplasmic reticulum membrane | The lipid bilayer surrounding the endoplasmic reticulum. |
| integral component of membrane | The component of a membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane. |
| intracellular membrane-bounded organelle | Organized structure of distinctive morphology and function, bounded by a single or double lipid bilayer membrane and occurring within the cell. Includes the nucleus, mitochondria, plastids, vacuoles, and vesicles. Excludes the plasma membrane. |
| membrane | A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it. |
| nuclear membrane | Either of the lipid bilayers that surround the nucleus and form the nuclear envelope; excludes the intermembrane space. |
7 GO annotations of molecular function
| Name | Definition |
|---|---|
| cholesterol binding | Binding to cholesterol (cholest-5-en-3-beta-ol); the principal sterol of vertebrates and the precursor of many steroids, including bile acids and steroid hormones. |
| phosphatidylinositol-4-phosphate binding | Binding to phosphatidylinositol-4-phosphate, a derivative of phosphatidylinositol in which the inositol ring is phosphorylated at the 4' position. |
| phosphatidylserine binding | Binding to phosphatidylserine, a class of glycophospholipids in which a phosphatidyl group is esterified to the hydroxyl group of L-serine. |
| phosphatidylserine transfer activity | Removes phosphatidylserine from the outer leaflet of a donor membrane, transports it through the aqueous phase while protected in a hydrophobic pocket, and brings it to the outer leaflet of an acceptor membrane. |
| phospholipid transporter activity | Enables the directed movement of phospholipids into, out of or within a cell, or between cells. Phospholipids are a class of lipids containing phosphoric acid as a mono- or diester. |
| sterol binding | Binding to a sterol, a steroid containing a hydroxy group in the 3 position, closely related to cholestan-3-ol. |
| sterol transporter activity | Enables the directed movement of sterols into, out of or within a cell, or between cells. Sterol are steroids with one or more hydroxyl groups and a hydrocarbon side-chain in the molecule. |
10 GO annotations of biological process
| Name | Definition |
|---|---|
| activation of protein kinase B activity | Any process that initiates the activity of the inactive enzyme protein kinase B. |
| fat cell differentiation | The process in which a relatively unspecialized cell acquires specialized features of an adipocyte, an animal connective tissue cell specialized for the synthesis and storage of fat. |
| negative regulation of cell migration | Any process that stops, prevents, or reduces the frequency, rate or extent of cell migration. |
| negative regulation of sequestering of triglyceride | Any process that decreases the rate, frequency or extent of sequestering of triglyceride. Triglyceride sequestration is the process of binding or confining any triester of glycerol such that it is separated from other components of a biological system. |
| phosphatidylserine acyl-chain remodeling | Remodeling the acyl chains of phosphatidylserine, through sequential deacylation and re-acylation reactions, to generate phosphatidylserine containing different types of fatty acid acyl chains. |
| phospholipid transport | The directed movement of phospholipids into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Phospholipids are any lipids containing phosphoric acid as a mono- or diester. |
| positive regulation of glucose import | Any process that activates or increases the frequency, rate or extent of the import of the hexose monosaccharide glucose into a cell or organelle. |
| positive regulation of insulin receptor signaling pathway | Any process that increases the frequency, rate or extent of insulin receptor signaling. |
| positive regulation of protein kinase B signaling | Any process that activates or increases the frequency, rate or extent of protein kinase B signaling, a series of reactions mediated by the intracellular serine/threonine kinase protein kinase B. |
| protein localization to nuclear pore | A process in which a protein is transported to, or maintained in, a nuclear pore. |
8 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| P35843 | HES1 | Oxysterol-binding protein homolog 5 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast) | PR |
| P35844 | KES1 | Oxysterol-binding protein homolog 4 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast) | PR |
| P38755 | OSH7 | Oxysterol-binding protein homolog 7 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast) | PR |
| Q9H0X9 | OSBPL5 | Oxysterol-binding protein-related protein 5 | Homo sapiens (Human) | PR |
| Q969R2 | OSBP2 | Oxysterol-binding protein 2 | Homo sapiens (Human) | PR |
| Q9H1P3 | OSBPL2 | Oxysterol-binding protein-related protein 2 | Homo sapiens (Human) | PR |
| P22059 | OSBP | Oxysterol-binding protein 1 | Homo sapiens (Human) | PR |
| B9EJ86 | Osbpl8 | Oxysterol-binding protein-related protein 8 | Mus musculus (Mouse) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MEGGLADGEP | DRTSLLGDSK | DVLGPSTVVA | NSDESQLLTP | GKMSQRQGKE | AYPTPTKDLH |
| 70 | 80 | 90 | 100 | 110 | 120 |
| QPSLSPASPH | SQGFERGKED | ISQNKDESSL | SMSKSKSESK | LYNGSEKDSS | TSSKLTKKES |
| 130 | 140 | 150 | 160 | 170 | 180 |
| LKVQKKNYRE | EKKRATKELL | STITDPSVIV | MADWLKIRGT | LKSWTKLWCV | LKPGVLLIYK |
| 190 | 200 | 210 | 220 | 230 | 240 |
| TQKNGQWVGT | VLLNACEIIE | RPSKKDGFCF | KLFHPLEQSI | WAVKGPKGEA | VGSITQPLPS |
| 250 | 260 | 270 | 280 | 290 | 300 |
| SYLIIRATSE | SDGRCWMDAL | ELALKCSSLL | KRTMIREGKE | HDLSVSSDST | HVTFYGLLRA |
| 310 | 320 | 330 | 340 | 350 | 360 |
| NNLHSGDNFQ | LNDSEIERQH | FKDQDMYSDK | SDKENDQEHD | ESDNEVMGKS | EESDTDTSER |
| 370 | 380 | 390 | 400 | 410 | 420 |
| QDDSYIEPEP | VEPLKETTYT | EQSHEELGEA | GEASQTETVS | EENKSLIWTL | LKQVRPGMDL |
| 430 | 440 | 450 | 460 | 470 | 480 |
| SKVVLPTFIL | EPRSFLDKLS | DYYYHADFLS | EAALEENPYF | RLKKVVKWYL | SGFYKKPKGL |
| 490 | 500 | 510 | 520 | 530 | 540 |
| KKPYNPILGE | TFRCLWIHPR | TNSKTFYIAE | QVSHHPPISA | FYVSNRKDGF | CLSGSILAKS |
| 550 | 560 | 570 | 580 | 590 | 600 |
| KFYGNSLSAI | LEGEARLTFL | NRGEDYVMTM | PYAHCKGILY | GTMTLELGGT | VNITCQKTGY |
| 610 | 620 | 630 | 640 | 650 | 660 |
| SAILEFKLKP | FLGSSDCVNQ | ISGKLKLGKE | VLATLEGHWD | SEVFITDKKT | DNSEVFWNPT |
| 670 | 680 | 690 | 700 | 710 | 720 |
| PDIKQWRLIR | HTVKFEEQGD | FESEKLWQRV | TRAINAKDQT | EATQEKYVLE | EAQRQAARDR |
| 730 | 740 | 750 | 760 | 770 | 780 |
| KTKNEEWSCK | LFELDPLTGE | WHYKFADTRP | WDPLNDMIQF | EKDGVIQTKV | KHRTPMVSVP |
| 790 | 800 | 810 | 820 | 830 | 840 |
| KMKHKPTRQQ | KKVAKGYSSP | EPDIQDSSGS | EAQSVKPSTR | RKKGIELGDI | QSSIESIKQT |
| 850 | 860 | 870 | 880 | ||
| QEEIKRNIMA | LRNHLVSSTP | ATDYFLQQKD | YFIIFLLILL | QVIINFMFK |