Q9BW27
PR
Gene name |
NUP85 (NUP75, PCNT1) |
Protein name |
Nuclear pore complex protein Nup85 |
Names |
85 kDa nucleoporin, FROUNT, Nucleoporin Nup75, Nucleoporin Nup85, Pericentrin-1 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:79902 |
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 Q9BW27
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 5A9Q | EM | 2300 A | 8/H/Q/Z | 1-656 | PDB |
| 7PEQ | EM | 3500 A | AH/BH/CH/DH | 1-656 | PDB |
| 7R5J | EM | 5000 A | P0/P1/P2/P3 | 1-656 | PDB |
| 7R5K | EM | 1200 A | P0/P1/P2/P3 | 1-656 | PDB |
| AF-Q9BW27-F1 | Predicted | AlphaFoldDB |
521 variants for Q9BW27
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA400988934 VAR_081364 RCV000721154 rs1568094661 |
477 | A>V | Nephrotic syndrome, type 17 NPHS17; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs2076132007 RCV001332564 |
489 | W>R | Nephrotic syndrome, type 17 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA400990952 VAR_081365 rs1321552081 RCV000721157 |
581 | A>P | Nephrotic syndrome, type 17 NPHS17; decreased function in nephrogenesis; unable to fully rescue morpholino-induced nephrogenesis defects in Xenopus; decreased interaction with NUP160 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt dbSNP gnomAD |
|
CA8759119 RCV000721155 rs368572297 VAR_081366 |
645 | R>W | Nephrotic syndrome, type 17 NPHS17; loss of function in nephrogenesis; unable to rescue morpholino-induced nephrogenesis defects in Xenopus; decreased interaction with NUP160 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
| TCGA novel | 2 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1450314409 CA400969811 |
3 | E>K | No |
ClinGen gnomAD |
|
|
rs1191838923 CA400969847 |
4 | L>I | No |
ClinGen TOPMed |
|
|
CA293990224 rs749732500 |
7 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs1467926464 CA400969966 |
8 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA400969974 rs1199284539 |
9 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
CA8758283 rs778275239 |
10 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA8758296 rs199651391 |
16 | V>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs146284801 CA8758297 |
18 | S>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA400971099 rs146284801 |
18 | S>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs778531073 CA8758300 |
19 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs201542143 CA8758299 |
19 | K>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA8758301 COSM3796075 rs745390003 |
20 | K>N | urinary_tract [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs779853480 CA8758303 |
21 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs771566609 CA8758302 |
21 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA400971177 rs1263797442 |
22 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1272373897 CA400971305 |
28 | G>C | No |
ClinGen gnomAD |
|
|
CA8758304 rs746601630 |
30 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs1210722961 CA400971346 |
31 | E>K | No |
ClinGen gnomAD |
|
|
CA400971392 rs1598261192 |
32 | M>T | No |
ClinGen Ensembl |
|
|
rs1250182845 CA400971411 |
33 | L>V | No |
ClinGen gnomAD |
|
|
CA400971469 rs1258898335 |
35 | C>S | No |
ClinGen TOPMed |
|
|
rs1182922438 CA400971481 |
35 | C>W | No |
ClinGen TOPMed |
|
|
CA400971498 rs1184917624 |
36 | E>D | No |
ClinGen gnomAD |
|
|
rs768629522 CA8758305 |
36 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA8758306 rs776562028 |
38 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs761849736 CA8758307 |
41 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA293992638 rs948009107 |
41 | K>N | No |
ClinGen TOPMed |
|
|
CA8758308 rs376677016 |
41 | K>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs368657294 CA8758328 |
44 | K>R | No |
ClinGen ESP ExAC gnomAD |
|
| TCGA novel | 45 | S>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8758329 rs769591238 |
45 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA8758331 rs773028197 |
46 | E>A | No |
ClinGen ExAC gnomAD |
|
|
CA8758330 rs773028197 |
46 | E>V | No |
ClinGen ExAC gnomAD |
|
|
CA8758333 rs543033222 |
47 | M>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA8758334 rs760931583 |
48 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1473044934 CA400972491 |
49 | P>Q | No |
ClinGen TOPMed |
|
|
CA400972523 rs1384711945 |
50 | S>R | No |
ClinGen gnomAD |
|
|
rs764319125 CA8758335 |
52 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs772850238 CA8758337 |
55 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772850238 CA8758336 |
55 | Y>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1489481720 CA400972697 |
56 | I>V | No |
ClinGen TOPMed |
|
|
CA8758338 rs765576349 |
57 | I>V | No |
ClinGen ExAC gnomAD |
|
|
COSM289391 rs760257294 CA8758339 |
58 | R>C | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs201647606 CA8758340 |
58 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA293993940 rs1022705384 |
59 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
CA400972807 rs1022705384 |
59 | K>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1598264291 CA400972842 |
60 | D>V | No |
ClinGen Ensembl |
|
|
rs766026448 CA8758341 |
61 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA400972889 rs1269780315 |
62 | D>G | No |
ClinGen TOPMed |
|
|
rs1390483789 CA400972911 |
63 | V>I | No |
ClinGen gnomAD |
|
|
CA293993966 rs975822402 |
64 | Y>F | No |
ClinGen gnomAD |
|
|
CA400972978 rs1173807104 |
66 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
CA293993982 rs899257965 |
66 | Q>R | No |
ClinGen TOPMed |
|
|
CA293993987 rs948018747 |
67 | I>V | No |
ClinGen TOPMed |
|
|
rs1294689222 CA400973082 |
70 | K>I | No |
ClinGen TOPMed |
|
| TCGA novel | 70 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs143619264 CA8758345 |
73 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 75 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA293993994 rs578086003 |
78 | I>L | No |
ClinGen Ensembl |
|
|
CA8758347 rs777614228 |
81 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs1298651856 CA400973388 |
85 | I>T | No |
ClinGen gnomAD |
|
|
rs765056344 CA8758350 |
87 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1598264463 CA400973422 |
87 | E>K | No |
ClinGen Ensembl |
|
|
rs747119283 CA8758351 |
90 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768652242 CA8758352 |
92 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs919858238 CA293994060 |
92 | K>R | No |
ClinGen Ensembl |
|
|
rs768264724 CA293994062 |
93 | S>F | No |
ClinGen Ensembl |
|
|
rs762078842 CA400973562 |
94 | R>S | No |
ClinGen ExAC TOPMed |
|
|
CA8758355 rs765585087 |
95 | K>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA293994089 rs765585087 |
95 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8758356 rs773593174 |
97 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs763603635 CA8758357 |
97 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA400974077 rs1485284736 |
98 | L>W | No |
ClinGen gnomAD |
|
|
CA8758375 rs763442784 |
99 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA8758376 rs771354739 |
100 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1289387594 CA400974105 |
100 | R>Q | No |
ClinGen TOPMed |
|
|
rs1208185980 CA400974125 |
101 | V>A | No |
ClinGen TOPMed |
|
|
rs1185656286 CA400974114 |
101 | V>M | No |
ClinGen gnomAD |
|
| TCGA novel | 104 | N>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs760108822 CA8758378 |
106 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
COSM3796076 CA400974241 rs1350790812 |
107 | S>L | Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA8758380 rs548736873 |
109 | I>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs763832877 CA8758382 |
111 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs757054980 CA8758385 |
112 | C>R | No |
ClinGen ExAC gnomAD |
|
|
CA8758384 rs757054980 |
112 | C>S | No |
ClinGen ExAC gnomAD |
|
|
rs750423704 CA8758386 |
112 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
CA400974428 rs1291611986 |
113 | M>I | No |
ClinGen gnomAD |
|
|
rs758323584 CA8758387 |
115 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs568528636 CA8758388 |
116 | M>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs748282215 CA8758389 |
117 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778145464 CA8758391 |
118 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
rs1367894772 CA400974570 |
119 | V>D | No |
ClinGen gnomAD |
|
|
CA400974579 rs1471867573 |
120 | A>T | No |
ClinGen gnomAD |
|
|
CA8758464 rs747454710 |
122 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs776084988 CA8758466 |
123 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA8758465 rs768220407 |
123 | A>S | No |
ClinGen ExAC |
|
|
rs776084988 CA400974893 |
123 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs761501777 CA8758467 |
124 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs149997756 CA400974937 |
126 | P>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA8758469 rs149997756 |
126 | P>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA400974945 rs1255233565 |
127 | A>T | No |
ClinGen gnomAD |
|
|
rs201751185 CA8758470 |
128 | N>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1263762754 CA400974995 |
129 | G>V | No |
ClinGen gnomAD |
|
|
rs1464526593 CA400975000 |
130 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA400975010 rs751574604 |
130 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8758472 rs751574604 |
130 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8758474 rs764311680 |
132 | F>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs998860227 CA293997674 |
133 | S>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1376347042 CA400975078 |
134 | S>C | No |
ClinGen gnomAD |
|
|
rs370408537 CA8758475 |
134 | S>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1388248420 CA400976356 |
138 | I>V | No |
ClinGen gnomAD |
|
|
rs1179475906 CA400976386 |
139 | L>S | No |
ClinGen TOPMed |
|
|
rs779830764 CA294000265 |
140 | S>L | No |
ClinGen Ensembl |
|
|
CA400976402 rs1388272061 |
140 | S>P | No |
ClinGen gnomAD |
|
|
rs141670583 CA8758492 |
142 | M>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1369978667 CA400976504 |
143 | E>D | No |
ClinGen gnomAD |
|
| TCGA novel | 143 | E>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs749005445 CA400976515 |
144 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8758493 rs749005445 |
144 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8758495 rs750721242 |
145 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA400976580 rs1244288115 |
147 | N>K | No |
ClinGen gnomAD |
|
|
rs1598281985 CA400976583 |
148 | L>Q | No |
ClinGen Ensembl |
|
|
rs149203073 CA8758497 |
152 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs149203073 CA8758498 |
152 | L>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA400976745 rs1482353291 |
156 | V>M | No |
ClinGen gnomAD |
|
|
CA8758501 rs372819480 |
157 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs761018652 CA8758518 |
160 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs1598287364 CA400977664 |
161 | P>L | No |
ClinGen Ensembl |
|
|
rs753271175 CA8758519 |
164 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs767018534 CA294004676 |
165 | H>L | No |
ClinGen gnomAD |
|
|
rs767018534 CA400977701 |
165 | H>R | No |
ClinGen gnomAD |
|
|
CA8758520 rs554489095 |
170 | V>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA400977733 rs554489095 |
170 | V>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs375169622 CA8758522 |
171 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs549941786 CA8758521 |
171 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA294004708 rs938531464 |
173 | H>P | No |
ClinGen TOPMed |
|
|
rs1375729478 CA400977756 |
174 | V>L | No |
ClinGen TOPMed |
|
|
rs745464633 CA8758525 |
176 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA400977768 rs1312108939 |
176 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 178 | D>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8758527 rs373568508 |
181 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA400977842 rs1247011534 |
187 | S>G | No |
ClinGen gnomAD |
|
|
rs768497952 CA8758529 |
190 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1188045794 CA400977870 |
191 | S>G | No |
ClinGen gnomAD |
|
|
CA400977882 rs1432469922 |
192 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
CA8758530 rs776590104 |
192 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs766424183 CA400977887 |
193 | H>P | No |
ClinGen ExAC gnomAD |
|
|
rs774614505 CA8758533 |
193 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
CA8758532 rs766424183 |
193 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA8758531 rs762945892 |
193 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA400977915 rs1320020388 |
197 | W>R | No |
ClinGen gnomAD |
|
|
CA400979540 rs1225073907 |
200 | V>M | No |
ClinGen gnomAD |
|
|
rs1320786763 CA400979570 |
201 | T>I | No |
ClinGen gnomAD |
|
|
CA400979620 rs759805202 |
204 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs759805202 CA8758551 |
204 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA400979685 rs1471210188 |
207 | G>C | No |
ClinGen gnomAD |
|
|
CA8758553 rs147965234 |
208 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8758552 rs767750204 |
208 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8758556 rs754364907 |
211 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 213 | R>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs757747257 CA8758557 |
213 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1275472942 CA400979856 |
215 | M>I | No |
ClinGen TOPMed |
|
|
rs1007965619 CA294009229 |
215 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
rs146934402 CA294009238 |
216 | L>F | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1186448230 CA400979906 |
218 | K>R | No |
ClinGen gnomAD |
|
| TCGA novel | 219 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs779855513 CA8758561 |
221 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1359923036 CA400980010 |
222 | A>T | No |
ClinGen gnomAD |
|
|
CA8758564 rs781036459 |
223 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA400980087 rs1439537461 |
224 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs769749610 CA8758566 |
225 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8758567 rs534518155 |
225 | A>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1416768582 CA400980158 |
226 | S>F | No |
ClinGen gnomAD |
|
|
rs554160532 CA8758568 |
229 | I>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA8758569 rs199766568 |
230 | C>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
CA400980236 rs1167157231 |
231 | R>* | No |
ClinGen gnomAD |
|
|
CA8758570 rs775708688 |
231 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA294009283 rs994208116 |
233 | M>V | No |
ClinGen Ensembl |
|
|
CA400980346 rs1411074645 |
234 | G>V | No |
ClinGen gnomAD |
|
|
CA400980356 rs1339369403 |
235 | D>N | No |
ClinGen gnomAD |
|
|
CA8758572 rs768972466 |
238 | R>K | No |
ClinGen ExAC gnomAD |
|
|
rs768972466 CA400980447 |
238 | R>T | No |
ClinGen ExAC gnomAD |
|
|
CA294009310 rs200340772 |
239 | T>R | No |
ClinGen Ensembl |
|
|
CA294009320 rs1026148460 |
241 | P>L | No |
ClinGen Ensembl |
|
|
CA294009330 rs762028528 |
242 | I>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8758574 rs762028528 |
242 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765846176 CA8758575 |
243 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs750922664 CA8758576 |
243 | L>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8758600 rs767201382 |
245 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs17844857 CA294009435 |
246 | G>R | No |
ClinGen Ensembl |
|
|
CA294009436 rs17844857 |
246 | G>W | No |
ClinGen Ensembl |
|
|
CA8758602 rs141178315 |
248 | T>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs141178315 CA400980802 |
248 | T>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA8758603 rs577842829 |
249 | Q>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs945383304 CA294009446 |
250 | T>R | No |
ClinGen TOPMed |
|
|
rs1456323218 CA400980905 |
253 | E>K | No |
ClinGen gnomAD |
|
| TCGA novel | 256 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs753809016 CA8758604 |
256 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs559681053 CA8758606 CA8758607 |
257 | K>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs757177446 CA8758605 |
257 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA400980992 rs1348027579 |
258 | W>R | No |
ClinGen TOPMed |
|
|
rs1322698462 CA400981019 |
259 | Q>E | No |
ClinGen gnomAD |
|
|
rs925684897 CA294009469 |
260 | H>R | No |
ClinGen Ensembl |
|
|
CA8758609 rs200495546 |
262 | H>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA294009477 rs866622891 |
262 | H>Y | No |
ClinGen Ensembl |
|
|
CA294009500 rs1050134772 |
263 | E>K | No |
ClinGen gnomAD |
|
|
CA400981168 rs1283932108 |
265 | C>R | No |
ClinGen gnomAD |
|
|
rs563377292 CA8758610 |
267 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA400981216 rs1328619295 |
267 | R>W | No |
ClinGen gnomAD |
|
|
CA400981231 rs770324180 |
268 | Y>D | No |
ClinGen ExAC gnomAD |
|
|
CA8758611 rs770324180 |
268 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA400981274 rs1598310968 |
270 | Q>P | No |
ClinGen Ensembl |
|
|
rs1598310968 CA400981277 |
270 | Q>R | No |
ClinGen Ensembl |
|
|
CA400981351 rs1296029027 |
273 | T>I | No |
ClinGen TOPMed |
|
|
rs774652697 CA400981376 |
274 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8758617 rs766886650 |
275 | A>D | No |
ClinGen ExAC gnomAD |
|
|
CA8758616 rs61760968 |
275 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA400982027 rs1268932804 |
276 | T>S | No |
ClinGen gnomAD |
|
|
rs1418022980 CA400982058 |
278 | P>A | No |
ClinGen gnomAD |
|
|
rs1156378159 CA400982065 |
278 | P>L | No |
ClinGen gnomAD |
|
|
rs889989024 CA294009561 |
279 | H>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA294009557 rs1041267140 |
279 | H>Y | No |
ClinGen Ensembl |
|
|
CA8758619 rs760285954 |
284 | L>S | No |
ClinGen ExAC gnomAD |
|
|
rs760124350 CA8758637 |
291 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1426288651 CA400982597 |
292 | A>G | No |
ClinGen gnomAD |
|
|
rs925318937 CA294009684 |
293 | A>T | No |
ClinGen TOPMed |
|
|
CA400982642 rs567658330 |
294 | L>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs776229017 CA8758639 |
296 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8758640 rs761620625 |
297 | Q>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 299 | E>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1299908163 CA400982807 |
301 | L>V | No |
ClinGen gnomAD |
|
|
rs1397311985 CA400982854 |
302 | S>G | No |
ClinGen gnomAD |
|
|
rs764920979 CA8758641 |
302 | S>I | No |
ClinGen ExAC gnomAD |
|
|
CA400982840 rs1397311985 |
302 | S>R | No |
ClinGen gnomAD |
|
|
rs138147210 CA8758642 |
306 | H>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs199764435 CA8758644 |
311 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1297417059 COSM124892 CA400983101 |
311 | R>W | upper_aerodigestive_tract [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
rs1469684209 CA400983313 |
316 | N>S | No |
ClinGen TOPMed |
|
|
rs1202538859 CA400983382 |
318 | T>I | No |
ClinGen gnomAD |
|
|
rs1271171439 CA400983404 |
319 | V>I | No |
ClinGen TOPMed |
|
|
rs778171610 CA8758647 |
321 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA294009734 rs911353970 |
321 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs778171610 CA8758648 |
321 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1262576797 CA400983477 |
322 | I>T | No |
ClinGen TOPMed |
|
|
CA400983514 rs1237086190 |
323 | D>G | No |
ClinGen TOPMed |
|
|
rs1183954631 CA400983495 |
323 | D>H | No |
ClinGen gnomAD |
|
|
CA294009737 rs930206963 |
325 | H>L | No |
ClinGen Ensembl |
|
|
rs1440257431 CA400983554 |
325 | H>Y | No |
ClinGen gnomAD |
|
|
rs1418540916 CA400983638 |
327 | Y>H | No |
ClinGen gnomAD |
|
|
CA294009741 rs1047783212 |
329 | Q>E | No |
ClinGen Ensembl |
|
|
CA8758649 rs757686047 |
329 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA8758673 rs768196199 |
330 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768196199 CA400983805 |
330 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8758674 rs780679050 |
332 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA400983867 rs1258354642 |
333 | D>E | No |
ClinGen TOPMed |
|
|
rs747893446 CA8758675 |
333 | D>H | No |
ClinGen ExAC gnomAD |
|
|
rs1215493082 CA400983908 |
337 | G>R | No |
ClinGen TOPMed |
|
|
CA400983922 rs1271077352 |
338 | G>A | No |
ClinGen gnomAD |
|
|
CA400983920 rs1271077352 |
338 | G>D | No |
ClinGen gnomAD |
|
|
CA400983965 rs1480791401 |
341 | S>T | No |
ClinGen gnomAD |
|
|
rs770798660 CA8758679 |
342 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1055836878 CA294009957 |
344 | P>L | No |
ClinGen Ensembl |
|
|
CA400983999 rs1402714601 |
344 | P>T | No |
ClinGen gnomAD |
|
|
rs370022411 CA8758682 |
345 | L>V | No |
ClinGen ESP ExAC TOPMed |
|
|
rs753844740 CA8758683 |
347 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs761890959 CA8758684 |
348 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA294010009 rs894486832 |
352 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1346754230 CA400984073 |
353 | F>L | No |
ClinGen gnomAD |
|
|
CA400984125 rs1333137766 |
360 | V>A | No |
ClinGen TOPMed |
|
|
CA8758687 rs750613625 |
363 | E>D | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
| TCGA novel | 364 | C>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 364 | C>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM195308 CA8758720 rs771947376 |
367 | A>T | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 369 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8758721 rs775343744 |
369 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751954996 CA294012713 |
370 | N>S | No |
ClinGen Ensembl |
|
|
rs1178167382 CA400985290 |
375 | A>V | No |
ClinGen gnomAD |
|
|
CA294012718 rs374077496 |
380 | L>V | No |
ClinGen Ensembl |
|
|
CA8758723 rs769835709 |
384 | C>R | No |
ClinGen ExAC gnomAD |
|
|
rs773329765 CA8758724 |
384 | C>W | No |
ClinGen ExAC gnomAD |
|
|
rs371897302 CA8758725 |
385 | K>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA400985737 rs759915823 CA8758728 |
391 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1384591962 CA400985731 |
391 | N>S | No |
ClinGen TOPMed |
|
|
rs1350315509 CA400985782 |
393 | Y>C | No |
ClinGen gnomAD |
|
| TCGA novel | 395 | G>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1294115930 CA400985933 |
395 | G>S | No |
ClinGen gnomAD |
|
|
rs758059695 CA8758756 |
395 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs901286852 CA294012887 |
396 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA294012894 rs749910869 |
397 | N>S | No |
ClinGen Ensembl |
|
|
rs142625251 CA8758757 |
399 | R>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA400986938 rs1372091924 |
400 | E>Q | No |
ClinGen TOPMed |
|
|
rs754689741 CA8758759 |
405 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1476006163 CA400987033 |
405 | E>Q | No |
ClinGen TOPMed |
|
|
CA8758761 rs748054022 |
408 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA294012951 rs771037987 |
412 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8758762 rs771037987 |
412 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA294012954 rs1005460276 COSM246146 |
413 | H>Y | prostate [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
rs778959266 CA8758763 |
414 | P>H | No |
ClinGen ExAC gnomAD |
|
|
CA400987242 rs1480040401 |
414 | P>S | No |
ClinGen gnomAD |
|
|
rs1480040401 CA400987239 |
414 | P>T | No |
ClinGen gnomAD |
|
|
rs1259940363 CA400987523 |
418 | Q>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1598346276 CA400987554 |
419 | L>V | No |
ClinGen Ensembl |
|
|
CA8758799 rs765785690 |
421 | V>F | No |
ClinGen ExAC |
|
|
CA400987624 rs1598346306 |
421 | V>G | No |
ClinGen Ensembl |
|
| TCGA novel | 421 | V>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs759103539 CA8758801 |
422 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs759103539 CA294013143 |
422 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
CA8758802 rs767357558 |
423 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs144680877 CA8758803 |
426 | Y>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs753666447 CA8758806 |
429 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1568092865 CA400987836 |
431 | G>R | No |
ClinGen Ensembl |
|
|
CA294013179 rs754664084 |
432 | R>Q | No |
ClinGen Ensembl |
|
|
CA400987867 rs1598346409 |
433 | V>G | No |
ClinGen Ensembl |
|
|
CA400987881 rs1343830013 |
435 | L>V | No |
ClinGen gnomAD |
|
|
rs1189359491 CA400987924 |
437 | L>P | No |
ClinGen TOPMed |
|
|
CA400987939 rs1345479877 |
438 | H>R | No |
ClinGen gnomAD |
|
|
CA400987965 rs1443373785 |
439 | I>M | No |
ClinGen TOPMed |
|
|
rs888264055 CA294013195 |
439 | I>T | No |
ClinGen TOPMed |
|
|
CA400987953 rs1240577472 |
439 | I>V | No |
ClinGen TOPMed |
|
|
CA400987997 rs1280874554 |
441 | R>Q | No |
ClinGen gnomAD |
|
|
rs1282968084 CA400987992 |
441 | R>W | No |
ClinGen TOPMed |
|
|
CA294013202 rs778516308 |
442 | I>V | No |
ClinGen Ensembl |
|
|
rs1219456093 CA400988078 |
446 | T>A | No |
ClinGen gnomAD |
|
| TCGA novel | 446 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA294013203 rs867124423 |
447 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs770236589 CA400988116 |
448 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
rs770236589 CA8758813 |
448 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA294013209 rs781394657 |
450 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
CA400988145 rs781394657 |
450 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA400988149 rs1248528387 |
451 | L>V | No |
ClinGen gnomAD |
|
|
CA400988174 rs1214651510 |
453 | V>L | No |
ClinGen TOPMed |
|
|
CA8758815 rs201896656 |
455 | R>Q | Variant assessed as Somatic; 4.622e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs773820046 CA8758814 |
455 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA294013226 rs1005429195 |
457 | C>F | No |
ClinGen Ensembl |
|
|
CA400988278 rs1159700153 |
460 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA400988275 rs1441895276 |
460 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
CA400988294 rs1365491665 |
461 | Q>K | No |
ClinGen gnomAD |
|
|
CA8758816 rs770538681 |
463 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA400988670 rs1330192328 |
466 | V>D | No |
ClinGen gnomAD |
|
|
rs1351147939 CA400988421 |
466 | V>I | No |
ClinGen gnomAD |
|
|
rs372532025 CA8758846 |
467 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8758848 rs776306989 |
467 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8758847 rs776306989 |
467 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs545737851 COSM984297 CA8758849 |
468 | S>G | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA400988772 rs750326333 |
470 | C>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750326333 CA8758850 |
470 | C>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA294013942 rs982808612 |
472 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA8758852 rs375845560 |
474 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1429943063 CA400988879 |
475 | M>L | No |
ClinGen gnomAD |
|
|
rs753034446 CA8758853 |
475 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA400988910 rs1342479373 |
476 | K>R | No |
ClinGen gnomAD |
|
|
rs776506979 CA294013975 |
478 | V>A | No |
ClinGen Ensembl |
|
|
COSM984299 CA400988942 rs1262716520 |
478 | V>I | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs148520579 CA8758856 |
479 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8758857 rs757597966 |
479 | R>H | No |
ClinGen ExAC |
|
|
rs368889675 CA294014006 |
480 | N>D | No |
ClinGen gnomAD |
|
|
rs368637573 CA8758860 |
480 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8758859 rs368637573 |
480 | N>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8758861 rs371471946 |
481 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1266031718 CA400989009 |
481 | N>Y | No |
ClinGen gnomAD |
|
|
CA8758862 rs746467614 |
482 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1385938 rs142787021 CA8758863 |
482 | R>H | large_intestine [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA400989094 rs1399994447 |
484 | G>D | No |
ClinGen gnomAD |
|
|
CA8758864 rs541230324 |
484 | G>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA400989099 rs1399994447 |
484 | G>V | No |
ClinGen gnomAD |
|
|
CA8758866 rs769609522 |
486 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA400989129 rs1362424134 |
486 | A>T | No |
ClinGen gnomAD |
|
|
rs762980962 CA8758868 |
488 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA8758870 rs775724512 |
490 | S>N | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 491 | I>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA400989217 rs1214955252 |
491 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA8758871 rs760740948 |
492 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8758872 rs760740948 |
492 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs545929051 CA8758873 |
492 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
rs955864300 CA400989245 |
493 | A>P | No |
ClinGen gnomAD |
|
|
rs955864300 CA294014083 |
493 | A>T | No |
ClinGen gnomAD |
|
|
CA8758874 rs757607656 |
496 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs369534023 CA8758877 |
497 | A>G | No |
ClinGen ESP ExAC gnomAD |
|
|
rs750992371 CA8758876 |
497 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8758878 rs780475013 |
499 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200361674 CA8758879 |
500 | T>M | No |
ClinGen ExAC gnomAD |
|
|
rs1373412379 CA400989390 |
501 | L>F | No |
ClinGen TOPMed |
|
|
CA8758884 rs563333903 |
502 | V>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs532419654 CA8758885 |
504 | D>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs200364754 CA294014299 |
507 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs200364754 CA8758902 |
507 | L>I | No |
ClinGen ExAC gnomAD |
|
|
COSM562111 rs764777983 CA8758904 |
508 | R>G | lung [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs373908468 CA8758905 |
509 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1401353832 CA400989674 |
511 | C>F | No |
ClinGen gnomAD |
|
|
CA8758906 rs768682043 |
511 | C>R | No |
ClinGen ExAC gnomAD |
|
|
CA400989664 rs768682043 |
511 | C>S | No |
ClinGen ExAC gnomAD |
|
|
CA8758907 rs191462772 |
512 | E>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
COSM984301 CA8758909 rs149330582 |
513 | R>Q | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs773377242 CA8758910 |
514 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA8758911 rs763361094 |
515 | C>R | No |
ClinGen ExAC gnomAD |
|
|
rs1403707410 CA400989738 |
515 | C>S | No |
ClinGen TOPMed |
|
|
CA400989787 rs1568095281 |
518 | D>H | No |
ClinGen Ensembl |
|
|
rs572513137 CA294014355 |
519 | L>M | No |
ClinGen TOPMed |
|
|
rs766699228 CA8758912 |
521 | L>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8758914 rs760077553 |
524 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA8758915 rs767852115 |
524 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA400989918 rs1254031448 |
525 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA400989943 rs1200986015 |
526 | G>A | No |
ClinGen gnomAD |
|
|
rs1188560258 CA400989931 |
526 | G>R | No |
ClinGen TOPMed |
|
|
rs753514548 CA8758919 |
527 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757155229 CA8758920 |
530 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs377250765 CA294014427 |
534 | R>* | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA8758922 rs745847665 |
534 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA400990056 rs752455411 |
535 | L>M | No |
ClinGen gnomAD |
|
|
CA294014435 rs752455411 |
535 | L>V | No |
ClinGen gnomAD |
|
|
CA8758923 rs772053230 |
538 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1420788212 CA400990308 |
539 | G>A | No |
ClinGen gnomAD |
|
|
rs746923382 CA8758947 |
542 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs147921665 CA8758948 |
542 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs749309995 CA8758950 |
543 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs771144534 CA8758952 |
546 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8758951 rs771144534 |
546 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8758953 rs746265050 |
546 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746265050 CA8758954 |
546 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA400990380 rs771144534 |
546 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA400990395 rs1236763079 |
547 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
CA400990387 rs1178336741 |
547 | M>V | No |
ClinGen gnomAD |
|
|
rs200639832 CA294016989 |
548 | Y>F | No |
ClinGen Ensembl |
|
|
CA400990431 rs1159759440 |
549 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1598365649 CA400990472 |
551 | K>R | No |
ClinGen Ensembl |
|
|
rs761256079 CA8758956 |
552 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA400990489 rs1404237563 |
552 | R>H | No |
ClinGen gnomAD |
|
|
CA8758957 rs533381930 |
554 | A>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs199756304 CA8758959 |
555 | D>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA400990544 rs1374417574 |
556 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs141865454 CA294017030 |
556 | A>V | No |
ClinGen ESP |
|
| TCGA novel | 560 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs759765425 | 561 | L>missing | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs750025024 CA400990618 |
561 | L>M | No |
ClinGen ExAC gnomAD |
|
|
rs1355620742 CA400990622 |
561 | L>P | No |
ClinGen gnomAD |
|
|
CA400990621 rs1355620742 |
561 | L>Q | No |
ClinGen gnomAD |
|
|
rs1226617321 CA400990661 |
564 | M>I | No |
ClinGen gnomAD |
|
|
CA400990673 rs1292119479 |
565 | T>M | No |
ClinGen gnomAD |
|
|
CA8758966 rs145404739 |
567 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA8758965 rs202239179 |
567 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA400990695 rs1176497340 |
568 | I>V | No |
ClinGen TOPMed |
|
|
rs369490158 CA8758968 |
570 | P>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1472104622 CA400990734 |
570 | P>R | No |
ClinGen gnomAD |
|
|
rs369490158 CA400990728 |
570 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs757232047 CA8758970 |
571 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8758969 rs749399274 |
571 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs1461597042 CA400990782 |
572 | S>C | No |
ClinGen TOPMed gnomAD |
|
|
rs779241237 CA400990796 COSM1286728 |
573 | F>L | autonomic_ganglia [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs994606920 CA294017033 |
575 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
CA400990894 rs1466991490 |
577 | L>V | No |
ClinGen gnomAD |
|
|
rs1329306058 CA400990933 |
579 | T>I | No |
ClinGen gnomAD |
|
|
rs1315442436 CA400990943 |
580 | D>G | No |
ClinGen TOPMed |
|
|
rs1321552081 CA400990951 |
581 | A>T | No |
ClinGen gnomAD |
|
|
CA400990956 rs1445771091 |
581 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA400990957 rs1267793838 |
582 | L>M | No |
ClinGen gnomAD |
|
|
rs772555152 CA8758973 |
584 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1218134963 CA400991048 |
585 | L>F | No |
ClinGen gnomAD |
|
|
rs1199601436 CA400991118 CA400991125 |
587 | Q>H | No |
ClinGen gnomAD |
|
|
rs148227295 CA8758977 |
588 | K>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 589 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs563354357 CA8758978 |
589 | Q>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs563354357 CA400991164 |
589 | Q>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs778376904 CA8759044 |
590 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA400991475 rs1196451203 |
593 | S>L | No |
ClinGen gnomAD |
|
|
CA8759045 rs745324153 |
594 | A>V | No |
ClinGen ExAC |
|
|
CA400991510 rs1480898111 |
596 | Q>P | No |
ClinGen gnomAD |
|
|
rs771716740 CA8759046 |
597 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs1358603772 CA400991556 |
599 | E>Q | No |
ClinGen gnomAD |
|
| TCGA novel | 600 | L>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1476221545 CA400991598 |
601 | M>V | No |
ClinGen gnomAD |
|
|
rs746799719 CA8759048 |
602 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA8759047 rs775167109 |
602 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs768468918 CA8759049 |
603 | C>R | No |
ClinGen ExAC gnomAD |
|
|
rs370968983 CA400991667 |
605 | E>A | No |
ClinGen ESP ExAC gnomAD |
|
|
rs370968983 CA8759050 |
605 | E>G | No |
ClinGen ESP ExAC gnomAD |
|
|
CA8759051 rs761830415 |
606 | D>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA8759053 rs774581644 |
608 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774581644 CA400991735 |
608 | T>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs926504939 CA294017253 |
610 | R>I | No |
ClinGen TOPMed |
|
| TCGA novel | 612 | P>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1216431436 CA400991874 |
613 | V>L | No |
ClinGen gnomAD |
|
|
rs764512270 CA294017261 |
614 | H>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764512270 CA8759058 |
614 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8759059 rs754356558 |
615 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs1239862328 CA400991911 |
615 | G>R | No |
ClinGen gnomAD |
|
| TCGA novel | 615 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 616 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8759060 rs140273334 |
616 | E>Q | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1486614541 CA400992017 |
618 | D>G | No |
ClinGen gnomAD |
|
|
CA400992053 rs745412153 |
619 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA8759062 rs745412153 |
619 | T>N | No |
ClinGen ExAC gnomAD |
|
|
rs371512162 CA8759064 COSM984303 |
620 | E>K | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA gnomAD |
|
CA8759065 rs746671485 |
622 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA8759066 rs768393987 |
623 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs778675404 CA8759113 |
625 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA8759112 rs770902391 |
625 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA400992736 rs1356284240 |
627 | I>R | No |
ClinGen gnomAD |
|
|
rs375168108 CA294017472 |
627 | I>V | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1341883954 CA400992797 |
632 | V>M | No |
ClinGen gnomAD |
|
|
CA400992889 rs1323538812 |
637 | L>P | No |
ClinGen TOPMed |
|
|
rs776877734 CA8759117 |
638 | S>F | No |
ClinGen ExAC TOPMed |
|
|
CA400992934 rs1215583174 |
641 | R>G | No |
ClinGen gnomAD |
|
|
CA8759118 rs762010860 |
641 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA294017479 rs1049564247 |
642 | N>K | No |
ClinGen TOPMed |
|
|
CA400992983 rs1310959072 |
644 | A>V | No |
ClinGen gnomAD |
|
|
CA8759121 rs372841934 |
645 | R>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA8759120 rs372841934 |
645 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs767135021 CA8759126 |
648 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8759125 rs767135021 |
648 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8759128 rs763769141 |
650 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 651 | G>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs200563260 CA294017496 |
651 | G>D | No |
ClinGen Ensembl |
|
|
rs753694107 CA8759129 |
653 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs375953998 CA294017498 |
655 | G>D | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1175556193 CA400993348 |
656 | S>F | No |
ClinGen gnomAD |
|
|
rs1376115347 CA400993951 |
657 | S>R | No |
ClinGen gnomAD |
1 associated diseases with Q9BW27
[MIM: 618176]: Nephrotic syndrome 17 (NPHS17)
A form of nephrotic syndrome, a renal disease clinically characterized by severe proteinuria, resulting in complications such as hypoalbuminemia, hyperlipidemia and edema. Kidney biopsies show non-specific histologic changes such as focal segmental glomerulosclerosis and diffuse mesangial proliferation. Some affected individuals have an inherited steroid-resistant form that progresses to end-stage renal failure. NPHS17 is an autosomal recessive, steroid-resistant progressive form with onset in the first decade of life. {ECO:0000269|PubMed:30179222}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- A form of nephrotic syndrome, a renal disease clinically characterized by severe proteinuria, resulting in complications such as hypoalbuminemia, hyperlipidemia and edema. Kidney biopsies show non-specific histologic changes such as focal segmental glomerulosclerosis and diffuse mesangial proliferation. Some affected individuals have an inherited steroid-resistant form that progresses to end-stage renal failure. NPHS17 is an autosomal recessive, steroid-resistant progressive form with onset in the first decade of life. {ECO:0000269|PubMed:30179222}. Note=The disease is caused by variants affecting the gene represented in this entry.
No regional properties for Q9BW27
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| No domain, repeats, and functional sites for Q9BW27 | |||
Functions
9 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| kinetochore | A multisubunit complex that is located at the centromeric region of DNA and provides an attachment point for the spindle microtubules. |
| membrane | A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it. |
| nuclear envelope | The double lipid bilayer enclosing the nucleus and separating its contents from the rest of the cytoplasm; includes the intermembrane space, a gap of width 20-40 nm (also called the perinuclear space). |
| nuclear membrane | Either of the lipid bilayers that surround the nucleus and form the nuclear envelope; excludes the intermembrane space. |
| nuclear pore | A protein complex providing a discrete opening in the nuclear envelope of a eukaryotic cell, where the inner and outer nuclear membranes are joined. |
| nuclear pore outer ring | A subcomplex of the nuclear pore complex (NPC) that forms the outer rings of the core scaffold, a lattice-like structure that gives the NPC its shape and strength. In S. cerevisiae, the two outer rings each contain multiple copies of the following proteins: Nup133p, Nup120p, Nup145Cp, Nup85p, Nup84p, Seh1p, and Sec13p. In vertebrates, the two outer rings each contain multiple copies of the following proteins: Nup133, Nup160, Nup96, Nup75, Nup107, Seh1, Sec13, Nup43, Nup37, and ALADIN. Components are arranged in 8-fold symmetrical 'spokes' around the central transport channel. A single 'spoke', can be isolated and is sometimes referred to as the Nup84 complex (S. cerevisiae) or the Nup107-160 complex (vertebrates). |
| nucleoplasm | That part of the nuclear content other than the chromosomes or the nucleolus. |
| spindle | The array of microtubules and associated molecules that forms between opposite poles of a eukaryotic cell during mitosis or meiosis and serves to move the duplicated chromosomes apart. |
1 GO annotations of molecular function
| Name | Definition |
|---|---|
| structural constituent of nuclear pore | The action of a molecule that contributes to the structural integrity of the nuclear pore complex, a protein-lined channel in the nuclear envelope that allows the transfer of macromolecules. |
7 GO annotations of biological process
| Name | Definition |
|---|---|
| lamellipodium assembly | Formation of a lamellipodium, a thin sheetlike extension of the surface of a migrating cell. |
| macrophage chemotaxis | The movement of a macrophage in response to an external stimulus. |
| mRNA export from nucleus | The directed movement of mRNA from the nucleus to the cytoplasm. |
| nephron development | The process whose specific outcome is the progression of the nephron over time, from its formation to the mature structure. A nephron is the functional unit of the kidney. |
| nucleocytoplasmic transport | The directed movement of molecules between the nucleus and the cytoplasm. |
| positive regulation of DNA-templated transcription | Any process that activates or increases the frequency, rate or extent of cellular DNA-templated transcription. |
| protein import into nucleus | The directed movement of a protein from the cytoplasm to the nucleus. |
4 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| P46673 | NUP85 | Nucleoporin NUP85 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast) | PR |
| D7STK2 | GATC | Glutamyl-tRNA(Gln) amidotransferase subunit C, chloroplastic/mitochondrial | Vitis vinifera (Grape) | PR |
| C5WR30 | GATC | Glutamyl-tRNA(Gln) amidotransferase subunit C, chloroplastic/mitochondrial | Sorghum bicolor (Sorghum) (Sorghum vulgare) | PR |
| Q6DBY0 | nup85 | Nuclear pore complex protein Nup85 | Danio rerio (Zebrafish) (Brachydanio rerio) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MEELDGEPTV | TLIPGVNSKK | NQMYFDWGPG | EMLVCETSFN | KKEKSEMVPS | CPFIYIIRKD |
| 70 | 80 | 90 | 100 | 110 | 120 |
| VDVYSQILRK | LFNESHGIFL | GLQRIDEELT | GKSRKSQLVR | VSKNYRSVIR | ACMEEMHQVA |
| 130 | 140 | 150 | 160 | 170 | 180 |
| IAAKDPANGR | QFSSQVSILS | AMELIWNLCE | ILFIEVAPAG | PLLLHLLDWV | RLHVCEVDSL |
| 190 | 200 | 210 | 220 | 230 | 240 |
| SADVLGSENP | SKHDSFWNLV | TILVLQGRLD | EARQMLSKEA | DASPASAGIC | RIMGDLMRTM |
| 250 | 260 | 270 | 280 | 290 | 300 |
| PILSPGNTQT | LTELELKWQH | WHEECERYLQ | DSTFATSPHL | ESLLKIMLGD | EAALLEQKEL |
| 310 | 320 | 330 | 340 | 350 | 360 |
| LSNWYHFLVT | RLLYSNPTVK | PIDLHYYAQS | SLDLFLGGES | SPEPLDNILL | AAFEFDIHQV |
| 370 | 380 | 390 | 400 | 410 | 420 |
| IKECSIALSN | WWFVAHLTDL | LDHCKLLQSH | NLYFGSNMRE | FLLLEYASGL | FAHPSLWQLG |
| 430 | 440 | 450 | 460 | 470 | 480 |
| VDYFDYCPEL | GRVSLELHIE | RIPLNTEQKA | LKVLRICEQR | QMTEQVRSIC | KILAMKAVRN |
| 490 | 500 | 510 | 520 | 530 | 540 |
| NRLGSALSWS | IRAKDAAFAT | LVSDRFLRDY | CERGCFSDLD | LIDNLGPAMM | LSDRLTFLGK |
| 550 | 560 | 570 | 580 | 590 | 600 |
| YREFHRMYGE | KRFADAASLL | LSLMTSRIAP | RSFWMTLLTD | ALPLLEQKQV | IFSAEQTYEL |
| 610 | 620 | 630 | 640 | 650 | |
| MRCLEDLTSR | RPVHGESDTE | QLQDDDIETT | KVEMLRLSLA | RNLARAIIRE | GSLEGS |