P22059
Gene name |
OSBP |
Protein name |
Oxysterol-binding protein 1 |
Names |
|
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:5007 |
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
3 structures for P22059
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 2RR3 | NMR | - | B | 346-379 | PDB |
| 7V62 | X-ray | 325 A | A/B/C/D | 406-807 | PDB |
| AF-P22059-F1 | Predicted | AlphaFoldDB |
433 variants for P22059
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA380794659 rs1183694496 |
2 | A>V | No |
ClinGen gnomAD |
|
|
rs1365796297 CA380794654 |
3 | A>S | No |
ClinGen TOPMed |
|
|
rs1474518974 CA380794652 |
3 | A>V | No |
ClinGen gnomAD |
|
|
CA223209081 rs1032971651 |
9 | V>L | No |
ClinGen TOPMed |
|
|
CA223209076 rs902678365 |
11 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
CA380794574 rs1590682224 |
11 | G>R | No |
ClinGen Ensembl |
|
|
rs1192199441 CA380794562 |
12 | P>L | No |
ClinGen gnomAD |
|
|
CA223209074 rs534529690 |
15 | A>P | No |
ClinGen Ensembl |
|
|
CA223209069 rs1013660475 |
16 | A>G | No |
ClinGen TOPMed |
|
|
CA380794513 rs1288045626 |
17 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1565123164 CA380794500 |
18 | A>G | No |
ClinGen Ensembl |
|
|
CA380794509 rs1475957711 |
18 | A>T | No |
ClinGen TOPMed |
|
|
rs1590682201 CA380794498 |
19 | A>P | No |
ClinGen Ensembl |
|
|
CA380794491 rs1181729191 |
19 | A>V | No |
ClinGen TOPMed |
|
|
rs1289906341 CA380794442 |
24 | G>S | No |
ClinGen gnomAD |
|
|
rs1455351345 CA380794421 |
26 | G>S | No |
ClinGen TOPMed |
|
|
CA380794411 rs1322169645 |
27 | P>A | No |
ClinGen TOPMed |
|
| TCGA novel | 28 | P>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA223209047 rs937972849 |
30 | V>L | No |
ClinGen TOPMed |
|
|
rs1381327670 CA380794335 |
34 | G>D | No |
ClinGen TOPMed |
|
|
CA380794341 rs1255747197 |
34 | G>S | No |
ClinGen gnomAD |
|
|
rs568719199 CA223209045 |
35 | G>S | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA380794318 rs1366750243 |
36 | R>H | No |
ClinGen gnomAD |
|
|
rs1038016073 CA223209042 |
39 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
CA380794287 rs1326512397 |
39 | A>T | No |
ClinGen gnomAD |
|
|
rs1038016073 CA380794283 |
39 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1207006009 CA380794269 |
40 | G>A | No |
ClinGen TOPMed |
|
|
CA380794188 rs1447873121 |
47 | S>L | No |
ClinGen TOPMed |
|
|
CA380794166 rs1209939891 |
49 | T>K | No |
ClinGen TOPMed |
|
|
CA380794152 rs1474084894 |
51 | V>I | No |
ClinGen TOPMed |
|
|
rs1188003281 CA380794141 |
52 | A>T | No |
ClinGen TOPMed |
|
|
rs1590682136 CA380794126 |
53 | A>S | No |
ClinGen Ensembl |
|
|
rs1410528214 CA380794122 |
53 | A>V | No |
ClinGen TOPMed |
|
|
rs1478006296 CA380794112 |
54 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA380794103 rs1197034604 |
55 | A>G | No |
ClinGen gnomAD |
|
|
rs983277231 CA223209018 |
58 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
CA223209015 rs933173423 |
60 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs550652114 CA6019875 |
62 | A>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs550652114 CA380794041 |
62 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs974525360 CA223209000 |
63 | G>V | No |
ClinGen TOPMed |
|
|
rs1226654072 CA380794014 |
64 | G>V | No |
ClinGen TOPMed |
|
|
rs1281484762 CA380794012 |
65 | V>M | No |
ClinGen TOPMed |
|
|
CA380793978 rs1319585461 |
68 | A>S | No |
ClinGen gnomAD |
|
|
rs1346698077 CA380793960 |
70 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA6019874 rs770727659 |
71 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA380793952 rs1440089956 |
72 | P>S | No |
ClinGen gnomAD |
|
|
CA6019873 rs749016554 |
73 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs773165924 CA6019872 |
74 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs769818876 CA6019871 |
76 | T>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6019870 rs748005178 |
78 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768604232 CA6019868 |
79 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs528977360 CA6019869 |
79 | S>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA380793909 rs1231771485 |
80 | G>D | No |
ClinGen gnomAD |
|
|
CA380793905 rs200837578 |
81 | G>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6019866 rs200837578 |
81 | G>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA380793896 rs1260943265 |
82 | S>L | No |
ClinGen gnomAD |
|
|
CA6019865 rs528395741 |
83 | G>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1304016193 CA380793891 |
83 | G>V | No |
ClinGen gnomAD |
|
|
rs1590682039 CA380793888 |
84 | A>S | No |
ClinGen Ensembl |
|
|
CA6019864 rs750765114 |
84 | A>V | No |
ClinGen ExAC |
|
|
rs757826892 CA6019862 |
85 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA380793878 rs1184037322 |
86 | G>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1184037322 CA380793880 |
86 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1034147270 CA223208922 |
87 | S>L | No |
ClinGen TOPMed |
|
|
CA6019859 rs201962555 |
89 | S>A | No |
ClinGen 1000Genomes ExAC |
|
|
rs1469079592 CA380793855 |
90 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
CA6019857 rs200764299 |
90 | A>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA380793854 rs1469079592 |
90 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA223208911 rs866560928 |
91 | R>L | No |
ClinGen Ensembl |
|
|
CA380793841 rs1194887225 |
93 | G>S | No |
ClinGen gnomAD |
|
|
CA380793828 rs1177995319 |
94 | W>C | No |
ClinGen gnomAD |
|
|
CA380793794 rs1417173633 |
99 | T>A | No |
ClinGen gnomAD |
|
|
rs1407170785 CA380793755 |
104 | G>D | No |
ClinGen gnomAD |
|
|
rs1441068824 CA380793740 |
106 | Q>* | No |
ClinGen gnomAD |
|
|
CA223208902 rs374783673 |
106 | Q>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA380793724 rs1252590974 |
109 | W>R | No |
ClinGen gnomAD |
|
|
CA6019853 TCGA novel CA380793710 rs761868177 |
110 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
NCI-TCGA ClinGen ExAC TOPMed gnomAD |
|
CA380793714 rs1590681975 |
110 | F>V | No |
ClinGen Ensembl |
|
|
CA380793701 rs1248096653 |
112 | L>P | No |
ClinGen TOPMed |
|
|
rs776371465 CA6019852 |
113 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA380793687 rs1287444371 |
114 | N>S | No |
ClinGen gnomAD |
|
|
rs1381637467 CA380793666 |
118 | S>G | No |
ClinGen gnomAD |
|
|
rs375768205 CA6019833 |
121 | R>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1590679648 CA380793570 |
129 | T>P | No |
ClinGen Ensembl |
|
|
rs1590679635 CA380793544 |
133 | T>P | No |
ClinGen Ensembl |
|
|
rs1590679630 CA380793527 |
135 | N>T | No |
ClinGen Ensembl |
|
|
CA380793517 rs1268888381 |
137 | A>T | No |
ClinGen gnomAD |
|
|
rs746162986 CA6019829 |
139 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA6019828 rs376305185 |
140 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA380793442 rs1226924510 |
143 | V>M | No |
ClinGen gnomAD |
|
|
rs373860788 CA6019826 |
146 | S>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 148 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1278534804 CA380793386 |
150 | I>L | No |
ClinGen gnomAD |
|
|
CA6019825 rs778367742 |
152 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs1343558185 CA380793353 |
155 | G>C | No |
ClinGen gnomAD |
|
|
CA223206308 rs778154083 |
158 | T>I | No |
ClinGen Ensembl |
|
|
rs758027822 CA223206299 |
161 | L>V | No |
ClinGen gnomAD |
|
|
rs537706135 CA380793299 |
163 | A>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6019823 rs537706135 |
163 | A>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs757845623 CA6019821 |
171 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA380793243 rs1173270765 |
171 | R>H | No |
ClinGen gnomAD |
|
|
rs1173270765 CA380793244 |
171 | R>L | No |
ClinGen gnomAD |
|
|
CA380793227 rs1590679573 |
173 | V>G | No |
ClinGen Ensembl |
|
|
rs1479695225 CA380793221 |
174 | T>M | No |
ClinGen gnomAD |
|
| TCGA novel | 180 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs924821619 CA223206285 |
186 | M>L | No |
ClinGen TOPMed |
|
|
rs1458328975 CA380793137 |
187 | L>P | No |
ClinGen gnomAD |
|
|
CA380793139 rs764652006 |
187 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA380793135 rs1378281093 |
188 | A>T | No |
ClinGen gnomAD |
|
|
rs1455063424 CA380793119 |
190 | S>A | No |
ClinGen TOPMed |
|
|
rs1455063424 CA380793121 |
190 | S>T | No |
ClinGen TOPMed |
|
|
CA6019797 rs753528162 |
200 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA380792891 rs1258952741 |
204 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
CA380792884 rs1238764417 |
204 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
rs752689363 CA6019794 |
205 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs568879919 CA6019793 |
208 | Q>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
CA6019790 rs766453014 |
212 | R>Q | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 212 | R>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1335189573 CA380792774 |
212 | R>W | Variant assessed as Somatic; 4.621e-05 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1383417980 CA380792758 |
213 | T>I | No |
ClinGen gnomAD |
|
|
rs1383417980 CA380792761 |
213 | T>N | No |
ClinGen gnomAD |
|
|
CA380792727 rs1420348286 |
216 | S>C | No |
ClinGen gnomAD |
|
|
CA380792725 rs1382203904 |
216 | S>N | No |
ClinGen gnomAD |
|
|
CA6019787 rs770147188 |
217 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs773362900 CA6019788 |
217 | K>T | No |
ClinGen ExAC gnomAD |
|
|
CA380792620 rs1289383818 |
223 | T>M | No |
ClinGen TOPMed |
|
|
CA6019786 rs762121813 |
225 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs200597145 CA6019782 |
231 | H>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs769090571 CA6019784 |
231 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA6019781 rs770463074 |
237 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs748966536 CA6019780 COSM929071 |
237 | R>H | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs748966536 CA380792514 |
237 | R>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 240 | S>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6019779 rs373171037 |
240 | S>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6019778 rs756005928 |
246 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA380792424 rs1463324994 |
251 | S>N | No |
ClinGen Ensembl |
|
|
CA6019776 rs781114937 COSM1746359 |
255 | I>M | urinary_tract [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed |
|
rs1027216304 CA223205091 |
255 | I>T | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 256 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA223205086 rs960677903 |
256 | K>R | No |
ClinGen TOPMed |
|
|
rs751500508 CA6019774 |
260 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs763023093 CA6019772 |
261 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA223205076 rs1033671469 |
263 | T>A | No |
ClinGen TOPMed |
|
|
CA6019765 rs776009854 |
267 | I>K | No |
ClinGen ExAC gnomAD |
|
|
CA6019766 rs545855578 |
267 | I>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA6019764 rs767353802 |
269 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1157833641 CA380792299 |
270 | N>S | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 271 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs761712190 CA6019762 |
274 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs1276625973 CA380791616 |
277 | R>G | No |
ClinGen gnomAD |
|
| VAR_036099 | 278 | D>A | a colorectal cancer sample; somatic mutation [UniProt] | No | UniProt |
| TCGA novel | 278 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs370601390 CA6019739 |
281 | M>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs566418356 CA380791564 |
281 | M>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs566418356 CA6019738 |
281 | M>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs370601390 CA6019740 |
281 | M>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs746769792 CA6019737 |
283 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA380791544 rs1339153440 |
283 | A>T | No |
ClinGen TOPMed |
|
|
CA380791536 rs746769792 |
283 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA380791507 rs1305497015 |
285 | T>I | No |
ClinGen TOPMed |
|
|
rs1336953005 CA380791497 |
286 | H>R | No |
ClinGen TOPMed |
|
|
rs200496917 CA6019736 |
287 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6019735 rs758368853 |
287 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA380791446 rs1343426450 |
289 | K>I | No |
ClinGen TOPMed gnomAD |
|
|
CA6019734 rs745797894 |
289 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs779020373 CA6019733 |
295 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA380791398 rs1317561583 |
296 | Y>H | No |
ClinGen gnomAD |
|
|
CA6019731 rs539140126 CA6019730 |
299 | D>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs532172095 CA6019728 |
300 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs764340556 CA6019729 |
300 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs753154427 CA6019727 |
303 | R>L | No |
ClinGen ExAC gnomAD |
|
|
rs1590675877 CA380791291 |
307 | T>P | No |
ClinGen Ensembl |
|
| TCGA novel | 312 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA380791093 rs1173933535 |
316 | N>D | No |
ClinGen TOPMed gnomAD |
|
|
CA380791069 rs1590675851 |
317 | H>P | No |
ClinGen Ensembl |
|
|
rs1420946983 CA380791071 |
317 | H>Y | No |
ClinGen TOPMed |
|
|
rs376924625 CA6019720 |
326 | T>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1469004266 CA380790882 |
326 | T>M | No |
ClinGen gnomAD |
|
|
CA6019718 rs141158743 |
329 | P>L | No |
ClinGen ESP ExAC gnomAD |
|
|
CA380790802 rs1360040684 |
332 | T>A | No |
ClinGen TOPMed |
|
|
rs1429527614 CA380790792 |
332 | T>I | No |
ClinGen gnomAD |
|
|
rs778758910 CA6019715 |
334 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs757362760 CA6019714 |
335 | N>H | No |
ClinGen ExAC gnomAD |
|
|
rs1158741752 CA380790725 |
335 | N>I | No |
ClinGen TOPMed gnomAD |
|
|
CA380790722 rs1158741752 |
335 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
CA6019713 rs749342934 |
337 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA223201836 rs912726234 |
341 | D>G | No |
ClinGen Ensembl |
|
|
rs1218870076 CA380790029 |
342 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1218870076 CA380790031 |
342 | Q>E | No |
ClinGen TOPMed gnomAD |
|
|
CA223201833 rs749111906 |
342 | Q>R | No |
ClinGen TOPMed |
|
|
CA6019694 rs749150844 |
343 | C>R | No |
ClinGen ExAC gnomAD |
|
|
CA223201816 rs564502273 |
344 | C>W | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA6019693 rs777977015 |
347 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA380789892 rs1264252415 |
349 | D>E | No |
ClinGen TOPMed |
|
| TCGA novel | 349 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 350 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1323746866 CA380789844 |
352 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA380789796 rs1294829309 |
354 | D>G | No |
ClinGen gnomAD |
|
|
rs1294829309 CA380789793 |
354 | D>V | No |
ClinGen gnomAD |
|
|
CA380789782 rs1383985326 |
355 | D>H | No |
ClinGen TOPMed |
|
|
CA6019691 rs201724760 |
356 | E>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA380789767 rs1216644970 |
356 | E>K | No |
ClinGen gnomAD |
|
| TCGA novel | 358 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 359 | F>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 360 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA380789646 rs1344220031 |
363 | P>S | No |
ClinGen TOPMed |
|
|
rs1290300974 CA380789633 |
364 | E>* | No |
ClinGen TOPMed |
|
|
CA380789627 rs1365580532 |
364 | E>V | No |
ClinGen TOPMed |
|
|
CA6019690 rs781522087 |
366 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA223201806 rs868209558 |
369 | P>S | No |
ClinGen Ensembl |
|
|
rs146158916 CA6019689 |
373 | G>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA223201800 rs746499770 |
374 | H>L | No |
ClinGen Ensembl |
|
|
CA380789456 rs1292452530 |
375 | K>R | No |
ClinGen gnomAD |
|
|
COSM1739798 CA6019671 rs202073964 |
376 | R>C | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA6019670 rs142125325 |
376 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 378 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs750942135 CA6019668 |
379 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs369375135 CA380789310 |
380 | N>I | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs369375135 CA223201528 |
380 | N>S | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1458404433 CA380789278 |
382 | S>N | No |
ClinGen gnomAD |
|
|
rs1024164431 CA223201506 |
384 | A>V | No |
ClinGen TOPMed |
|
|
CA6019667 rs779250604 |
386 | S>G | No |
ClinGen ExAC |
|
|
rs1325918870 CA380789190 |
388 | I>T | No |
ClinGen Ensembl |
|
|
CA6019665 rs752257399 |
390 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs181415530 CA223201485 |
393 | Q>E | No |
ClinGen 1000Genomes |
|
|
rs779315004 CA6019650 |
394 | Y>C | No |
ClinGen ExAC |
|
|
rs1353953805 CA380789051 |
395 | K>N | No |
ClinGen gnomAD |
|
|
CA6019649 rs200726039 |
395 | K>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA380789033 rs1280976331 |
396 | H>R | No |
ClinGen gnomAD |
|
|
CA223201301 rs944567129 |
397 | Q>P | No |
ClinGen TOPMed gnomAD |
|
|
rs200153690 CA6019647 |
401 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754431059 CA6019646 |
405 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6019644 rs138158355 |
408 | R>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs78163577 CA223201270 |
411 | Y>* | No |
ClinGen gnomAD |
|
|
rs1410414498 CA380788776 |
411 | Y>N | No |
ClinGen gnomAD |
|
|
rs1367616252 CA380788713 |
413 | P>R | No |
ClinGen gnomAD |
|
|
rs765073139 CA6019640 |
418 | N>H | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 418 | N>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6019637 rs374348079 |
423 | M>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 424 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA380788270 rs1355230615 |
430 | E>G | No |
ClinGen gnomAD |
|
|
rs1215214989 CA380788063 |
437 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1215214989 CA380788065 |
437 | P>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA380785084 rs1237894248 |
439 | N>K | No |
ClinGen gnomAD |
|
|
CA380785009 COSM689526 rs770322746 |
442 | E>D | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs1277179939 CA380784965 |
444 | L>F | No |
ClinGen gnomAD |
|
|
CA380784953 rs1218687865 |
445 | S>C | No |
ClinGen gnomAD |
|
| TCGA novel | 446 | M>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1182201158 CA380784896 |
447 | L>F | No |
ClinGen TOPMed |
|
|
rs1348629156 CA380784797 |
451 | T>A | No |
ClinGen gnomAD |
|
| TCGA novel | 453 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1245963763 CA380784668 |
455 | E>D | No |
ClinGen TOPMed |
|
|
rs1205391819 CA380784578 |
457 | H>R | No |
ClinGen gnomAD |
|
|
CA380784503 rs1376449593 |
458 | E>V | No |
ClinGen TOPMed gnomAD |
|
|
rs745510303 CA6019601 |
461 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs778586297 CA6019600 |
462 | R>* | No |
ClinGen ExAC gnomAD |
|
|
CA223198304 rs551492583 |
462 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA6019599 rs757138847 |
465 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA6019598 rs753738134 |
466 | C>S | No |
ClinGen ExAC gnomAD |
|
|
rs777682124 CA6019597 |
467 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA223198279 rs201345633 |
473 | L>F | No |
ClinGen Ensembl |
|
|
CA223198259 rs919043317 |
474 | C>S | No |
ClinGen TOPMed |
|
|
rs1167414323 CA380783778 |
475 | Y>H | No |
ClinGen TOPMed |
|
| TCGA novel | 477 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA380783671 rs1393405258 |
478 | A>V | No |
ClinGen TOPMed |
|
|
rs1209967124 CA380783594 |
481 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1282477340 CA380783414 |
486 | T>A | No |
ClinGen gnomAD |
|
|
CA380783277 COSM929065 rs1353247419 |
490 | R>C | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs1308041218 CA380783259 |
490 | R>H | No |
ClinGen gnomAD |
|
|
CA380782937 rs1224102128 |
500 | G>R | No |
ClinGen gnomAD |
|
|
CA380782729 RCV000736214 rs1565117343 |
507 | R>* | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA380782724 rs1245181314 COSM929064 |
507 | R>Q | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs1375206443 CA380782704 |
508 | L>S | No |
ClinGen gnomAD |
|
|
rs373967138 CA223198195 |
510 | E>A | No |
ClinGen ESP TOPMed |
|
|
CA223198191 rs908640685 |
510 | E>D | No |
ClinGen gnomAD |
|
|
COSM1218908 rs149764564 CA6019587 |
514 | R>Q | large_intestine [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs1314163252 CA380782427 |
515 | S>T | No |
ClinGen gnomAD |
|
|
rs1221840609 CA380782326 |
517 | C>S | No |
ClinGen TOPMed gnomAD |
|
|
rs758673285 CA6019573 |
528 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA6019571 rs765590019 |
530 | H>D | No |
ClinGen ExAC gnomAD |
|
|
CA6019570 rs762196934 |
532 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs777025517 CA6019569 |
534 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1462343262 CA380781622 |
534 | K>R | No |
ClinGen gnomAD |
|
|
CA380781489 rs1167421043 |
538 | T>I | No |
ClinGen gnomAD |
|
|
CA380781432 rs1565117241 |
540 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA6019567 rs761057427 |
540 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA6019565 rs770551481 |
543 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA6019566 rs774073983 |
543 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA6019564 rs748962701 |
546 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs1265134050 CA380781256 |
546 | T>I | No |
ClinGen gnomAD |
|
| TCGA novel | 548 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1407629159 CA380781159 |
550 | R>Q | No |
ClinGen gnomAD |
|
|
rs1212807077 CA380781108 |
552 | K>R | No |
ClinGen gnomAD |
|
|
CA223197802 rs777673716 |
556 | I>V | No |
ClinGen gnomAD |
|
| rs1274836208 | 559 | L>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 560 | G>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA380775797 rs1460606967 |
564 | C>G | No |
ClinGen TOPMed |
|
|
rs372017413 CA6019550 |
569 | T>A | No |
ClinGen ESP ExAC gnomAD |
|
| TCGA novel | 569 | T>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6019548 rs776084128 |
571 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
CA6019549 rs148193754 |
571 | H>Y | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA380775389 rs1302094511 |
575 | W>G | No |
ClinGen gnomAD |
|
|
rs1039058199 CA223189868 |
576 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
rs762517186 CA6019547 |
577 | K>N | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 578 | V>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA380775182 rs1284628712 |
580 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA223189859 rs1049721797 |
589 | K>R | No |
ClinGen TOPMed |
|
|
rs773023625 CA6019545 |
594 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA380774028 rs1256794395 |
597 | E>G | No |
ClinGen gnomAD |
|
|
rs764637254 CA6019522 |
597 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1565113718 CA380773894 |
600 | I>M | No |
ClinGen Ensembl |
|
|
rs1210953565 CA380773887 |
601 | V>L | No |
ClinGen gnomAD |
|
|
rs776075863 CA6019520 |
602 | N>T | No |
ClinGen ExAC gnomAD |
|
|
CA380773772 rs1204126880 |
603 | H>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA380773731 rs1281630531 |
604 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1350948676 CA380773752 |
604 | K>R | No |
ClinGen gnomAD |
|
|
rs546173084 CA223189103 |
607 | D>H | No |
ClinGen 1000Genomes |
|
|
rs765286860 CA6019519 |
608 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA380773493 rs1294480779 |
610 | N>K | No |
ClinGen gnomAD |
|
|
CA380773329 rs1323946250 |
614 | V>A | No |
ClinGen TOPMed |
|
|
rs1295806311 CA380773273 |
617 | S>R | No |
ClinGen gnomAD |
|
|
rs1045633212 CA223189101 |
618 | Y>C | No |
ClinGen TOPMed |
|
|
CA380773178 rs1417199515 |
623 | V>I | No |
ClinGen gnomAD |
|
|
CA380773145 rs1242140867 |
624 | A>V | No |
ClinGen TOPMed |
|
|
CA6019505 rs751950026 |
628 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA380796852 rs1191465717 |
630 | E>A | No |
ClinGen TOPMed |
|
|
CA6019502 rs375035258 |
630 | E>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA380796803 rs1393381440 |
633 | D>E | No |
ClinGen gnomAD |
|
|
CA6019501 rs763784991 |
633 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA380796786 rs1165385524 |
634 | P>S | No |
ClinGen gnomAD |
|
|
CA223235495 rs867902192 |
635 | S>L | No |
ClinGen Ensembl |
|
|
rs775328755 CA6019499 |
637 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs1269475983 CA380796712 |
638 | V>I | No |
ClinGen gnomAD |
|
|
rs1166780481 CA380796651 |
641 | A>G | No |
ClinGen gnomAD |
|
|
CA6019498 rs767288006 |
645 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1191312517 CA380796581 |
647 | D>Y | No |
ClinGen gnomAD |
|
|
rs1467766752 CA380796512 |
650 | M>I | No |
ClinGen gnomAD |
|
|
CA223235467 CA223235469 rs75832665 |
653 | F>L | No |
ClinGen Ensembl |
|
|
CA6019496 rs774089477 |
656 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs1253953151 CA380796370 |
656 | Q>L | No |
ClinGen gnomAD |
|
|
CA380796344 rs1363863199 |
658 | V>A | No |
ClinGen TOPMed |
|
|
CA223235456 rs1020987135 |
659 | I>L | No |
ClinGen Ensembl |
|
|
CA380796327 rs1294392978 |
660 | G>W | No |
ClinGen TOPMed |
|
|
rs201177669 CA223235452 |
661 | E>D | No |
ClinGen 1000Genomes |
|
|
rs183109024 CA6019495 |
663 | G>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs183109024 CA380796293 |
663 | G>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs773323590 CA6019493 |
664 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA380796286 rs1341497547 |
664 | G>V | No |
ClinGen gnomAD |
|
|
rs1000589949 CA223235437 |
670 | G>C | No |
ClinGen TOPMed gnomAD |
|
|
rs755324935 CA6019489 |
672 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs144553266 CA6019490 |
672 | E>G | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1210335027 CA380796203 |
673 | A>T | No |
ClinGen gnomAD |
|
|
CA380796196 rs1321039265 |
673 | A>V | No |
ClinGen gnomAD |
|
|
rs1328052536 CA380796193 |
674 | E>K | No |
ClinGen gnomAD |
|
|
CA380796146 rs1410488739 |
677 | R>S | No |
ClinGen gnomAD |
|
| TCGA novel | 678 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs139689203 CA6019488 |
678 | V>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6019487 rs559003347 |
679 | M>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 680 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 682 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs758915891 CA6019486 |
685 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758915891 CA380796075 |
685 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA380796067 rs1241192701 |
686 | L>S | No |
ClinGen TOPMed |
|
|
CA6019485 rs753329392 |
687 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA223235373 rs867239503 |
687 | P>S | No |
ClinGen Ensembl |
|
|
CA6019466 rs777278745 |
688 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs925162428 CA223234809 |
689 | N>H | No |
ClinGen TOPMed |
|
|
rs1282588011 CA380796033 |
690 | A>T | No |
ClinGen gnomAD |
|
|
rs1213840643 CA380796028 |
690 | A>V | No |
ClinGen gnomAD |
|
|
CA380796025 rs1316562453 |
691 | E>* | No |
ClinGen gnomAD |
|
|
CA380795994 rs1437710401 |
695 | Y>H | No |
ClinGen gnomAD |
|
|
CA223234792 rs1043632118 |
697 | S>L | No |
ClinGen TOPMed |
|
|
CA380795971 rs1352232253 |
698 | E>K | No |
ClinGen gnomAD |
|
|
rs1565112858 CA380795959 |
700 | A>S | No |
ClinGen Ensembl |
|
|
CA6019463 rs767109972 |
702 | T>S | No |
ClinGen ExAC gnomAD |
|
|
COSM1746358 CA223234784 rs945182920 |
704 | N>S | urinary_tract [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
rs1304083176 CA380795925 |
705 | A>V | No |
ClinGen gnomAD |
|
|
CA380795913 rs1565112845 |
707 | E>K | No |
ClinGen Ensembl |
|
|
rs898000579 CA223234779 |
710 | T>P | No |
ClinGen Ensembl |
|
|
CA6019461 rs200625839 |
712 | P>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs112258923 CA223234775 |
713 | T>A | No |
ClinGen Ensembl |
|
|
rs1402844425 CA380795873 |
713 | T>I | No |
ClinGen gnomAD |
|
|
CA380795855 rs1416181943 COSM929060 |
716 | R>W | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs762860195 CA6019459 |
718 | R>* | No |
ClinGen ExAC gnomAD |
|
|
CA223234767 rs777564295 |
718 | R>Q | No |
ClinGen Ensembl |
|
|
rs750315614 CA6019458 |
719 | P>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 720 | D>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1184928493 CA380795826 |
721 | Q>E | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 727 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6019457 COSM1355015 rs765435028 |
728 | R>C | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA380795777 rs765435028 |
728 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761932791 CA6019456 |
728 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA380795767 rs1216203206 |
729 | W>* | No |
ClinGen gnomAD |
|
| TCGA novel | 732 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs768805720 CA6019455 |
734 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA223234730 rs931665341 |
738 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
rs775775277 CA6019452 COSM3383622 |
738 | R>H | Variant assessed as Somatic; 0.0 impact. pancreas [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA380795676 rs775775277 |
738 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA380795594 rs772422914 |
746 | S>A | No |
ClinGen ExAC gnomAD |
|
|
CA380795588 rs1433304291 |
746 | S>C | No |
ClinGen TOPMed |
|
|
rs772422914 CA6019451 |
746 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs765405208 CA223234712 |
752 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA380795499 rs1244615136 |
753 | E>D | No |
ClinGen TOPMed |
|
|
rs142554412 CA6019448 |
755 | M>I | No |
ClinGen ESP ExAC |
|
|
CA6019449 rs779352340 |
755 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA6019446 rs780652604 |
757 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1043034048 CA223234670 |
759 | E>K | No |
ClinGen Ensembl |
|
|
CA6019444 rs529893810 |
759 | E>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs779715318 CA6019443 |
760 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 760 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA380795390 rs1259760978 |
761 | G>S | No |
ClinGen TOPMed |
|
|
CA6019427 rs200097455 |
763 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs148420169 CA6019424 |
767 | Y>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA380795276 rs1333144383 |
768 | K>E | No |
ClinGen gnomAD |
|
|
rs1305329785 CA380795261 |
769 | A>S | No |
ClinGen gnomAD |
|
|
CA6019420 rs375857883 |
774 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6019421 rs778846078 |
774 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs374098760 CA6019419 |
778 | P>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1396864644 CA380795147 |
785 | H>R | No |
ClinGen gnomAD |
|
|
CA6019418 rs764085013 |
787 | Y>C | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 788 | R>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA380795123 rs1404584173 |
789 | G>R | No |
ClinGen gnomAD |
|
|
rs559425511 CA6019416 |
793 | E>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1239111627 CA380795088 |
793 | E>G | No |
ClinGen TOPMed |
|
|
rs1182468515 CA380795082 |
794 | C>Y | No |
ClinGen TOPMed |
|
|
rs1418420832 CA380795025 |
799 | D>H | No |
ClinGen gnomAD |
|
|
rs1418420832 CA380795024 |
799 | D>N | No |
ClinGen gnomAD |
|
|
CA6019414 rs759725539 |
801 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA6019412 rs61755077 |
804 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6019409 rs202156177 |
805 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1018777721 CA223234530 |
805 | D>N | No |
ClinGen TOPMed |
|
|
CA380794918 rs1238839857 |
808 | F>C | No |
ClinGen gnomAD |
|
|
rs1259331834 CA380794924 |
808 | F>R | No |
ClinGen gnomAD |
No associated diseases with P22059
Functions
14 GO annotations of cellular component
| Name | Definition |
|---|---|
| cell junction | A cellular component that forms a specialized region of connection between two or more cells, or between a cell and the extracellular matrix, or between two membrane-bound components of a cell, such as flagella. |
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| endoplasmic reticulum membrane | The lipid bilayer surrounding the endoplasmic reticulum. |
| Golgi apparatus | A membrane-bound cytoplasmic organelle of the endomembrane system that further processes the core oligosaccharides (e.g. N-glycans) added to proteins in the endoplasmic reticulum and packages them into membrane-bound vesicles. The Golgi apparatus operates at the intersection of the secretory, lysosomal, and endocytic pathways. |
| Golgi membrane | The lipid bilayer surrounding any of the compartments of the Golgi apparatus. |
| 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. |
| nucleolus | A small, dense body one or more of which are present in the nucleus of eukaryotic cells. It is rich in RNA and protein, is not bounded by a limiting membrane, and is not seen during mitosis. Its prime function is the transcription of the nucleolar DNA into 45S ribosomal-precursor RNA, the processing of this RNA into 5.8S, 18S, and 28S components of ribosomal RNA, and the association of these components with 5S RNA and proteins synthesized outside the nucleolus. This association results in the formation of ribonucleoprotein precursors; these pass into the cytoplasm and mature into the 40S and 60S subunits of the ribosome. |
| nucleoplasm | That part of the nuclear content other than the chromosomes or the nucleolus. |
| perinuclear endoplasmic reticulum | The portion of endoplasmic reticulum, the intracellular network of tubules and cisternae, that occurs near the nucleus. The lumen of the perinuclear endoplasmic reticulum is contiguous with the nuclear envelope lumen (also called perinuclear space), the region between the inner and outer nuclear membranes. |
| perinuclear region of cytoplasm | Cytoplasm situated near, or occurring around, the nucleus. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
| trans-Golgi network | The network of interconnected tubular and cisternal structures located within the Golgi apparatus on the side distal to the endoplasmic reticulum, from which secretory vesicles emerge. The trans-Golgi network is important in the later stages of protein secretion where it is thought to play a key role in the sorting and targeting of secreted proteins to the correct destination. |
6 GO annotations of molecular function
| Name | Definition |
|---|---|
| oxysterol binding | Binding to oxysterol, an oxidized form of cholesterol. |
| phosphatidylinositol-4-phosphate binding | Binding to phosphatidylinositol-4-phosphate, a derivative of phosphatidylinositol in which the inositol ring is phosphorylated at the 4' position. |
| protein domain specific binding | Binding to a specific domain of a protein. |
| sterol binding | Binding to a sterol, a steroid containing a hydroxy group in the 3 position, closely related to cholestan-3-ol. |
| sterol transfer activity | Removes a sterol from a membrane or a monolayer lipid particle, transports it through the aqueous phase while protected in a hydrophobic pocket, and brings it to an acceptor membrane or lipid particle. |
| 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. |
9 GO annotations of biological process
| Name | Definition |
|---|---|
| bile acid biosynthetic process | The chemical reactions and pathways resulting in the formation of bile acids, any of a group of steroid carboxylic acids occurring in bile. |
| ceramide transport | The directed movement of ceramides into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Ceramides are a class of lipid composed of sphingosine linked to a fatty acid. |
| intracellular cholesterol transport | The directed movement of cholesterol, cholest-5-en-3-beta-ol, within cells. |
| 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 insulin secretion involved in cellular response to glucose stimulus | Any process that increases the frequency, rate or extent of the regulated release of insulin that contributes to the response of a cell to glucose. |
| positive regulation of secretory granule organization | Any process that activates or increases the frequency, rate or extent of secretory granule organization. |
| positive regulation of tyrosine phosphorylation of STAT protein | Any process that activates or increases the frequency, rate or extent of the introduction of a phosphate group to a tyrosine residue of a STAT (Signal Transducer and Activator of Transcription) protein. |
| sphingomyelin biosynthetic process | The chemical reactions and pathways resulting in the formation of sphingomyelin, N-acyl-4-sphingenyl-1-O-phosphorylcholine. |
| sterol transport | The directed movement of sterols into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Sterols are steroids with one or more hydroxyl groups and a hydrocarbon side-chain in the molecule. |
9 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q9BZF1 | OSBPL8 | Oxysterol-binding protein-related protein 8 | Homo sapiens (Human) | 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 |
| Q5QNQ6 | Osbp2 | Oxysterol-binding protein 2 | Mus musculus (Mouse) | PR |
| Q3B7Z2 | Osbp | Oxysterol-binding protein 1 | Mus musculus (Mouse) | PR |
| Q8S8P9 | ORP1B | Oxysterol-binding protein-related protein 1B | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9SAF0 | ORP1D | Oxysterol-binding protein-related protein 1D | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q8L751 | ORP1C | Oxysterol-binding protein-related protein 1C | Arabidopsis thaliana (Mouse-ear cress) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MAATELRGVV | GPGPAAIAAL | GGGGAGPPVV | GGGGGRGDAG | PGSGAASGTV | VAAAAGGPGP |
| 70 | 80 | 90 | 100 | 110 | 120 |
| GAGGVAAAGP | APAPPTGGSG | GSGAGGSGSA | REGWLFKWTN | YIKGYQRRWF | VLSNGLLSYY |
| 130 | 140 | 150 | 160 | 170 | 180 |
| RSKAEMRHTC | RGTINLATAN | ITVEDSCNFI | ISNGGAQTYH | LKASSEVERQ | RWVTALELAK |
| 190 | 200 | 210 | 220 | 230 | 240 |
| AKAVKMLAES | DESGDEESVS | QTDKTELQNT | LRTLSSKVED | LSTCNDLIAK | HGTALQRSLS |
| 250 | 260 | 270 | 280 | 290 | 300 |
| ELESLKLPAE | SNEKIKQVNE | RATLFRITSN | AMINACRDFL | MLAQTHSKKW | QKSLQYERDQ |
| 310 | 320 | 330 | 340 | 350 | 360 |
| RIRLEETLEQ | LAKQHNHLER | AFRGATVLPA | NTPGNVGSGK | DQCCSGKGDM | SDEDDENEFF |
| 370 | 380 | 390 | 400 | 410 | 420 |
| DAPEIITMPE | NLGHKRTGSN | ISGASSDISL | DEQYKHQLEE | TKKEKRTRIP | YKPNYSLNLW |
| 430 | 440 | 450 | 460 | 470 | 480 |
| SIMKNCIGKE | LSKIPMPVNF | NEPLSMLQRL | TEDLEYHELL | DRAAKCENSL | EQLCYVAAFT |
| 490 | 500 | 510 | 520 | 530 | 540 |
| VSSYSTTVFR | TSKPFNPLLG | ETFELDRLEE | NGYRSLCEQV | SHHPPAAAHH | AESKNGWTLR |
| 550 | 560 | 570 | 580 | 590 | 600 |
| QEIKITSKFR | GKYLSIMPLG | TIHCIFHATG | HHYTWKKVTT | TVHNIIVGKL | WIDQSGEIDI |
| 610 | 620 | 630 | 640 | 650 | 660 |
| VNHKTGDKCN | LKFVPYSYFS | RDVARKVTGE | VTDPSGKVHF | ALLGTWDEKM | ECFKVQPVIG |
| 670 | 680 | 690 | 700 | 710 | 720 |
| ENGGDARQRG | HEAEESRVML | WKRNPLPKNA | ENMYYFSELA | LTLNAWESGT | APTDSRLRPD |
| 730 | 740 | 750 | 760 | 770 | 780 |
| QRLMENGRWD | EANAEKQRLE | EKQRLSRKKR | EAEAMKATED | GTPYDPYKAL | WFERKKDPVT |
| 790 | 800 | ||||
| KELTHIYRGE | YWECKEKQDW | SSCPDIF |