Q9H1J1
Gene name |
UPF3A (RENT3A, UPF3) |
Protein name |
Regulator of nonsense transcripts 3A |
Names |
Nonsense mRNA reducing factor 3A, Up-frameshift suppressor 3 homolog A, hUpf3 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:65110 |
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 Q9H1J1
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 2L08 | NMR | - | A | 70-155 | PDB |
| 7QG6 | X-ray | 295 A | A/C/E/G | 58-206 | PDB |
| AF-Q9H1J1-F1 | Predicted | AlphaFoldDB |
470 variants for Q9H1J1
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA388838440 rs1372751125 |
2 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA388838446 rs1382208617 |
2 | R>H | No |
ClinGen TOPMed |
|
|
CA388838460 rs1366592633 |
3 | S>W | No |
ClinGen TOPMed |
|
|
CA388838467 rs1023469713 |
4 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
rs759775018 CA7070020 |
4 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA257264005 rs1023469713 |
4 | E>V | No |
ClinGen TOPMed gnomAD |
|
|
CA388838481 TCGA novel rs1340545238 |
5 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen TOPMed gnomAD NCI-TCGA |
|
rs970416488 CA257264023 |
6 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs970416488 CA388838486 |
6 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1256344852 CA388838499 |
7 | G>R | No |
ClinGen gnomAD |
|
|
rs1275294202 CA388838507 |
7 | G>V | No |
ClinGen Ensembl |
|
|
rs775514726 CA7070022 |
8 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775514726 CA388838510 |
8 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs910596329 CA257264025 |
8 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1242292399 CA388838523 |
9 | G>A | No |
ClinGen TOPMed |
|
|
CA7070023 rs545511962 |
9 | G>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1474990197 CA388838530 |
10 | G>D | No |
ClinGen gnomAD |
|
|
CA7070024 rs764647001 |
10 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA388838539 rs1168307755 |
11 | L>F | No |
ClinGen gnomAD |
|
|
rs754311829 CA7070025 |
12 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs1014520051 CA257264059 |
13 | A>E | No |
ClinGen TOPMed |
|
|
CA388838554 rs1324617329 |
13 | A>T | No |
ClinGen gnomAD |
|
|
CA388838561 rs1014520051 |
13 | A>V | No |
ClinGen TOPMed |
|
|
CA7070026 rs201273206 |
14 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7070028 rs751211531 |
15 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs1362439331 CA388838582 |
16 | A>T | No |
ClinGen gnomAD |
|
|
rs199669800 CA257264112 |
17 | A>T | No |
ClinGen Ensembl |
|
|
rs920206864 CA257264120 |
17 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1272621801 CA388838602 |
18 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA7070029 rs754659664 |
18 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs1594734520 CA388838608 |
19 | G>R | No |
ClinGen Ensembl |
|
|
rs952908452 CA257264145 |
20 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1170480409 CA388838616 |
20 | P>T | No |
ClinGen TOPMed |
|
|
CA388838627 rs1446360989 |
21 | S>G | No |
ClinGen gnomAD |
|
|
rs1191166968 CA388838631 |
21 | S>N | No |
ClinGen gnomAD |
|
|
CA388838632 rs1191166968 |
21 | S>T | No |
ClinGen gnomAD |
|
|
CA388838639 rs1419835066 |
22 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1475326023 CA388838653 |
23 | R>K | No |
ClinGen gnomAD |
|
|
CA388838654 rs1475326023 |
23 | R>T | No |
ClinGen gnomAD |
|
|
rs985995959 CA257264153 |
24 | E>K | No |
ClinGen gnomAD |
|
|
rs1454845718 CA388838684 |
25 | K>N | No |
ClinGen gnomAD |
|
|
rs1288977974 CA388838686 |
26 | L>M | No |
ClinGen gnomAD |
|
|
CA388838700 rs1386232236 |
27 | S>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1386232236 CA388838698 |
27 | S>W | No |
ClinGen TOPMed gnomAD |
|
|
rs1296728016 CA388838707 |
28 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1415594770 CA388838712 |
29 | L>I | No |
ClinGen gnomAD |
|
|
rs1483457459 CA388838720 |
29 | L>R | No |
ClinGen TOPMed |
|
|
CA7070034 rs549694730 |
30 | E>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA388838736 rs770710052 CA7070035 |
31 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs770710052 CA388838735 |
31 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA7070036 rs778656716 |
32 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs1220955385 CA388838763 |
33 | F>S | No |
ClinGen TOPMed |
|
|
rs867684324 CA257264208 |
35 | R>C | No |
ClinGen gnomAD |
|
|
CA257264219 rs866150021 |
35 | R>L | No |
ClinGen Ensembl |
|
|
CA7070037 rs745703632 |
36 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA257264231 rs866607014 |
37 | S>* | No |
ClinGen Ensembl |
|
|
CA257264300 rs923922944 |
40 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
rs923922944 CA257264280 |
40 | Q>K | No |
ClinGen TOPMed gnomAD |
|
|
CA257264305 rs935362462 |
41 | E>K | No |
ClinGen TOPMed |
|
|
rs369318678 CA7070040 |
42 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs768620649 CA7070041 |
42 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA388838876 rs1157425035 |
43 | E>K | No |
ClinGen gnomAD |
|
|
rs765896619 CA388838904 |
45 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765896619 CA7070045 |
45 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1393415961 CA388838917 |
46 | P>L | No |
ClinGen gnomAD |
|
|
CA257264320 rs1035066257 |
47 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs763481628 CA7070047 |
47 | T>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752305683 CA257264339 |
48 | S>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752305683 CA7070049 |
48 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7070051 rs763545842 |
49 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1209085685 CA388838935 |
49 | S>P | No |
ClinGen TOPMed gnomAD |
|
|
rs753436215 CA7070052 |
50 | S>A | No |
ClinGen ExAC gnomAD |
|
|
rs1232569254 CA388838942 |
50 | S>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1232569254 CA388838943 |
50 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
CA388838939 rs753436215 |
50 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs778887885 CA388838946 |
51 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA388838945 rs757152967 |
51 | G>C | No |
ClinGen ExAC gnomAD |
|
|
rs778887885 CA7070054 |
51 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7070053 rs757152967 |
51 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA388838959 rs200526577 |
53 | G>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs200526577 CA7070055 |
53 | G>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA7070056 rs758199252 |
54 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA388838964 rs1463693284 |
54 | G>D | No |
ClinGen gnomAD |
|
|
CA7070057 rs758199252 |
54 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA388838969 rs1399862043 |
55 | G>C | No |
ClinGen TOPMed gnomAD |
|
|
CA388838968 rs1399862043 |
55 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA388838967 rs1399862043 |
55 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
rs373380917 CA257264434 |
56 | A>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA257264450 rs373380917 |
56 | A>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA7070058 rs747224471 |
56 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs373380917 CA7070059 |
56 | A>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA388838977 rs1457537173 |
57 | G>C | No |
ClinGen TOPMed |
|
|
CA257264459 rs201405072 |
57 | G>D | No |
ClinGen Ensembl |
|
|
CA388838976 rs1457537173 |
57 | G>R | No |
ClinGen TOPMed |
|
|
CA7070062 rs776554800 |
58 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA388838980 rs776554800 |
58 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
CA388838983 rs1162797220 |
58 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1309084759 CA388838989 |
59 | P>S | No |
ClinGen gnomAD |
|
|
CA388838994 rs1204750484 |
60 | R>G | No |
ClinGen gnomAD |
|
|
rs770424499 CA388838996 |
60 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs770424499 CA7070064 |
60 | R>P | No |
ClinGen ExAC gnomAD |
|
|
CA7070066 rs773915083 |
61 | E>* | No |
ClinGen ExAC |
|
|
CA388839003 rs1456195230 |
61 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1406917642 CA388839007 |
62 | E>Q | No |
ClinGen gnomAD |
|
|
CA7070068 rs376489246 |
63 | K>E | No |
ClinGen ESP TOPMed |
|
|
CA388839018 rs1478639973 |
63 | K>N | No |
ClinGen gnomAD |
|
|
rs3752105 VAR_062143 CA7070069 |
64 | R>K | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA7070070 rs3752105 |
64 | R>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA388839026 rs1430610505 |
65 | T>A | No |
ClinGen gnomAD |
|
|
CA7070071 rs775169372 |
65 | T>K | No |
ClinGen ExAC gnomAD |
|
|
CA7070073 rs74613026 |
66 | A>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA388839031 rs74613026 |
66 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA388839034 rs1327993916 |
66 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1390544933 CA388839036 |
67 | L>Q | No |
ClinGen TOPMed |
|
|
rs753282717 CA7070074 |
67 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1214904167 CA388839043 |
68 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
CA388839039 rs1364020628 |
68 | S>R | No |
ClinGen gnomAD |
|
|
rs1426016693 CA388839048 |
69 | K>E | No |
ClinGen TOPMed |
|
|
rs1038572201 CA257264550 |
69 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
CA7070101 rs76186578 |
70 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs1445354415 CA388839089 |
73 | R>H | No |
ClinGen gnomAD |
|
|
CA7070103 rs756224010 |
74 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs1375258703 CA388839096 |
74 | R>H | No |
ClinGen gnomAD |
|
|
CA388839107 rs1237221357 |
76 | P>L | No |
ClinGen gnomAD |
|
|
CA7070104 rs778022698 |
77 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7070105 rs778022698 |
77 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA257264803 rs950732167 |
77 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA7070107 rs779532379 |
78 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs746160217 CA7070110 |
81 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA388839132 rs1458387616 |
81 | K>R | No |
ClinGen gnomAD |
|
|
rs1236492825 CA388839135 |
82 | E>K | No |
ClinGen gnomAD |
|
|
rs1277347941 CA388839148 |
83 | Q>R | No |
ClinGen TOPMed |
|
|
rs1243077307 CA388839168 |
86 | E>G | No |
ClinGen TOPMed |
|
|
CA388839174 rs1199544946 |
87 | Q>* | No |
ClinGen gnomAD |
|
|
CA388839183 rs1376834586 |
88 | L>P | No |
ClinGen gnomAD |
|
|
CA7070113 rs761474818 |
89 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA388839187 rs1423818252 |
89 | R>L | No |
ClinGen gnomAD |
|
|
CA388839194 rs1328676924 |
90 | P>L | No |
ClinGen gnomAD |
|
|
CA388839191 rs1018570749 |
90 | P>S | No |
ClinGen TOPMed |
|
|
CA257264873 rs1018570749 |
90 | P>T | No |
ClinGen TOPMed |
|
|
rs1324725313 CA388839202 |
92 | P>A | No |
ClinGen gnomAD |
|
|
CA388839205 rs1331062530 |
92 | P>L | No |
ClinGen gnomAD |
|
|
CA388839206 rs1316394890 |
93 | A>T | No |
ClinGen gnomAD |
|
|
CA388839219 rs191315480 |
94 | H>Q | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs1272302202 CA388839214 |
94 | H>Y | No |
ClinGen gnomAD |
|
|
CA388839226 rs1256203812 |
95 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
CA388839223 rs1428491401 |
95 | D>G | No |
ClinGen TOPMed |
|
|
rs762520134 CA388839220 |
95 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762520134 CA7070116 |
95 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA388839241 rs1210533634 |
97 | F>L | No |
ClinGen gnomAD |
|
|
CA388839246 rs1266540982 |
98 | E>A | No |
ClinGen gnomAD |
|
|
rs1031182192 CA257264901 |
98 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
CA388839243 rs1594740239 |
98 | E>K | No |
ClinGen Ensembl |
|
|
TCGA novel rs1194997507 CA388839257 |
99 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen TOPMed gnomAD NCI-TCGA |
|
rs1168152692 CA388839275 |
102 | A>D | No |
ClinGen gnomAD |
|
|
CA388839272 rs1477290558 |
102 | A>T | No |
ClinGen gnomAD |
|
|
rs1566718817 CA388839279 |
103 | D>Y | No |
ClinGen Ensembl |
|
|
rs1258992514 CA388839289 |
104 | L>P | No |
ClinGen gnomAD |
|
|
CA388839287 rs1419598132 |
104 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA388839294 rs1162130403 |
105 | S>N | No |
ClinGen gnomAD |
|
|
rs987673954 CA257265904 |
106 | L>F | No |
ClinGen TOPMed |
|
|
rs760603672 CA7070143 |
107 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 108 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7070145 rs754117857 |
108 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754117857 CA388839330 |
108 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764354121 CA7070144 |
108 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7070146 rs757240245 |
109 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs940862875 CA257265951 |
110 | L>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs750514540 CA7070148 |
111 | Y>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA388839377 rs556363515 |
116 | I>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7070151 rs556363515 |
116 | I>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs755352707 CA7070152 |
119 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs1308986380 CA388839417 |
121 | P>L | No |
ClinGen TOPMed |
|
|
rs201039341 CA7070153 |
121 | P>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1198663830 CA388839429 |
123 | D>A | No |
ClinGen gnomAD |
|
|
CA7070157 rs770298894 |
125 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA388839446 rs1279173098 |
126 | L>I | No |
ClinGen gnomAD |
|
|
rs1056239437 CA257266104 |
126 | L>R | No |
ClinGen TOPMed gnomAD |
|
|
rs773891566 CA7070158 |
128 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs745412491 CA7070159 |
129 | D>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 130 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7070160 rs772119228 |
130 | R>L | No |
ClinGen ExAC gnomAD |
|
|
CA7070162 rs760478961 |
131 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA7070164 rs145367145 |
134 | Y>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7070165 rs145367145 |
134 | Y>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7070163 rs764011129 |
134 | Y>H | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 136 | F>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7070166 rs765414961 |
137 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758468482 CA7070168 |
138 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs1201002533 CA388839533 |
139 | S>N | No |
ClinGen gnomAD |
|
|
rs1414710428 CA388839828 |
141 | G>D | No |
ClinGen gnomAD |
|
|
CA388839872 rs1162658709 |
145 | P>L | No |
ClinGen gnomAD |
|
|
CA388839878 rs1362405877 |
146 | A>S | No |
ClinGen gnomAD |
|
|
rs529401037 CA7070194 |
148 | V>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA388839907 rs1337937054 |
149 | E>A | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 149 | E>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7070195 rs757932269 |
150 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs779685671 CA7070196 |
152 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 153 | F>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7070197 rs746554618 |
156 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1377871891 CA388839984 |
156 | I>V | No |
ClinGen gnomAD |
|
|
CA7070198 rs768707129 |
162 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs781046348 CA7070199 |
163 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs747921994 CA7070200 |
165 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1231134074 CA388840092 |
166 | A>T | No |
ClinGen TOPMed |
|
|
rs1323495748 CA388840097 |
166 | A>V | No |
ClinGen TOPMed |
|
|
rs1285832031 CA388840111 |
168 | T>S | No |
ClinGen gnomAD |
|
|
rs547441846 CA257269078 |
170 | S>N | No |
ClinGen 1000Genomes gnomAD |
|
|
rs773447969 CA388840131 |
171 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs200349995 CA7070203 |
172 | E>K | Variant assessed as Somatic; 0.0005544 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA388840143 rs1566731917 |
173 | D>G | No |
ClinGen Ensembl |
|
|
rs1238442941 CA388840191 |
176 | E>D | No |
ClinGen gnomAD |
|
|
CA7070225 rs567334744 |
183 | T>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs745879648 CA388840285 |
185 | C>F | No |
ClinGen ExAC gnomAD |
|
|
rs745879648 CA7070227 COSM432178 |
185 | C>Y | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA257269381 rs933735181 |
186 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
rs772074945 CA7070228 |
187 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA7070231 rs761063736 |
192 | S>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7070230 rs761063736 |
192 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 193 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs886782169 CA257269429 |
194 | N>I | No |
ClinGen TOPMed gnomAD |
|
|
rs552671813 CA7070232 |
194 | N>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA257269448 rs970739195 |
196 | E>K | No |
ClinGen Ensembl |
|
|
CA7070234 rs1555368996 |
197 | T>A | No |
ClinGen Ensembl |
|
|
rs1453268694 CA388840417 |
198 | L>V | No |
ClinGen gnomAD |
|
|
rs754474639 CA7070238 |
200 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA388840438 rs754474639 |
200 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs1479235609 CA388840448 |
201 | E>V | No |
ClinGen gnomAD |
|
|
rs41291207 CA388840487 |
204 | A>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs41291207 CA7070239 |
204 | A>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA388840511 rs1293095374 |
206 | T>I | No |
ClinGen Ensembl |
|
|
CA7070243 rs755974941 |
207 | R>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7070244 rs777756188 |
207 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA388840527 rs1394899357 |
208 | E>Q | No |
ClinGen gnomAD |
|
|
CA257269573 rs920046854 |
209 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
rs920046854 CA388840538 |
209 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA388840553 rs1333972636 |
210 | I>M | No |
ClinGen TOPMed |
|
|
rs1403512340 CA388840549 |
210 | I>S | No |
ClinGen gnomAD |
|
|
rs1357202473 CA388840992 |
212 | R>G | No |
ClinGen gnomAD |
|
|
CA7070267 rs577525359 |
212 | R>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs369499398 CA7070268 |
213 | R>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1487737592 CA388841031 |
215 | T>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA388841041 rs1566744018 |
216 | P>L | No |
ClinGen Ensembl |
|
|
CA388841036 rs1242281350 |
216 | P>S | No |
ClinGen gnomAD |
|
|
rs756993621 CA7070271 |
219 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA388841122 rs1186228730 |
223 | N>I | No |
ClinGen gnomAD |
|
|
rs1443388197 CA388841150 |
225 | K>E | No |
ClinGen gnomAD |
|
|
CA7070275 rs780380394 |
226 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA7070274 rs758544348 |
226 | L>S | No |
ClinGen ExAC gnomAD |
|
|
CA257274837 rs903882660 |
230 | R>I | No |
ClinGen TOPMed |
|
|
rs780071389 CA7070292 |
231 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA257274844 rs936640071 COSM201615 |
232 | R>* | Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs751840581 CA7070293 |
232 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1054409672 CA257274858 |
234 | E>Q | No |
ClinGen TOPMed |
|
|
CA388841310 rs755061369 |
236 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7070294 rs755061369 |
236 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7070296 rs149323560 |
236 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7070295 rs149323560 |
236 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7070299 rs778406286 |
239 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA7070298 rs143579155 |
239 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed |
|
rs749560057 CA7070300 |
240 | R>S | No |
ClinGen ExAC gnomAD |
|
|
CA7070301 rs771333598 |
241 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA7070302 rs1555371086 |
243 | E>Q | No |
ClinGen Ensembl |
|
|
rs1175839376 CA388841370 |
244 | L>I | No |
ClinGen gnomAD |
|
|
rs1293598191 CA388841389 |
246 | K>R | No |
ClinGen TOPMed |
|
|
CA7070304 rs774953253 |
248 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768334907 CA7070306 |
248 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774953253 CA7070305 |
248 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1467187025 CA388841412 |
250 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs186674806 CA7070308 |
250 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1171490165 CA388841429 |
252 | E>D | No |
ClinGen gnomAD |
|
|
CA7070310 rs765100910 |
253 | E>K | No |
ClinGen ExAC TOPMed |
|
|
CA388841442 rs1487322346 |
254 | K>R | No |
ClinGen TOPMed |
|
|
rs1460461579 CA388841456 |
255 | R>K | No |
ClinGen gnomAD |
|
|
CA257274980 rs923716045 |
257 | R>K | No |
ClinGen Ensembl |
|
|
CA7070313 rs773204437 |
258 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs1356352990 CA388841487 |
258 | R>K | No |
ClinGen TOPMed |
|
|
rs762614352 CA7070315 |
258 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs766221879 CA7070316 |
259 | E>K | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 260 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA388841505 rs1341997949 |
260 | E>K | No |
ClinGen gnomAD |
|
|
CA388841519 rs1218653178 |
261 | E>K | No |
ClinGen gnomAD |
|
|
rs751362107 CA7070317 |
262 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA388841534 rs1307425169 |
262 | R>K | No |
ClinGen gnomAD |
|
|
rs1230687399 CA388841554 |
263 | C>* | No |
ClinGen TOPMed |
|
|
CA388841543 rs1267774473 |
263 | C>S | No |
ClinGen gnomAD |
|
| TCGA novel | 263 | C>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA388841548 rs1490603138 |
263 | C>Y | No |
ClinGen gnomAD |
|
|
CA388841560 rs1222216705 |
264 | K>E | No |
ClinGen gnomAD |
|
|
CA257275002 rs576285496 |
264 | K>R | No |
ClinGen gnomAD |
|
|
rs1478957221 CA388841575 |
265 | K>T | No |
ClinGen TOPMed gnomAD |
|
|
CA388841588 rs755220838 |
266 | K>I | No |
ClinGen ExAC TOPMed |
|
|
CA7070321 rs755220838 |
266 | K>R | No |
ClinGen ExAC TOPMed |
|
|
rs1297559348 CA388841597 |
267 | E>K | No |
ClinGen TOPMed |
|
| rs767420916 | 267 | E>R | Variant assessed as Somatic; 0.0001008 impact. Variant assessed as Somatic; 5.042e-05 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA388841614 rs1166758574 |
268 | T>A | No |
ClinGen gnomAD |
|
|
CA7070324 rs767918514 |
268 | T>I | No |
ClinGen ExAC |
|
|
rs767918514 CA257275033 |
268 | T>R | No |
ClinGen ExAC |
|
|
rs752815880 CA7070325 |
269 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs756279155 CA7070327 |
271 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778078710 CA7070328 |
273 | K>T | No |
ClinGen ExAC gnomAD |
|
|
CA388841692 rs1400265517 |
274 | I>T | No |
ClinGen gnomAD |
|
|
CA388841701 rs1359187172 |
275 | A>S | No |
ClinGen gnomAD |
|
|
rs1315394098 CA388841735 |
278 | E>* | No |
ClinGen gnomAD |
|
|
rs1290094019 CA388841756 |
281 | I>F | No |
ClinGen gnomAD |
|
|
rs376741542 CA7070333 |
282 | K>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs893429771 CA257275097 |
282 | K>R | No |
ClinGen Ensembl |
|
|
CA257282213 rs940687838 |
285 | K>* | No |
ClinGen TOPMed |
|
|
rs943077313 CA257282219 |
288 | E>K | No |
ClinGen TOPMed |
|
|
CA7070348 rs757773931 |
289 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA257282230 rs143806139 |
291 | E>* | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs560113415 CA257282236 |
292 | E>* | No |
ClinGen 1000Genomes TOPMed |
|
|
rs560113415 CA257282234 |
292 | E>K | No |
ClinGen 1000Genomes TOPMed |
|
|
CA388842030 rs1203753467 |
293 | P>S | No |
ClinGen TOPMed |
|
|
rs1157808242 CA388842039 |
294 | T>I | No |
ClinGen gnomAD |
|
|
CA7070351 rs746173465 |
299 | K>* | No |
ClinGen ExAC gnomAD |
|
|
rs1415863369 CA388842083 |
301 | R>G | No |
ClinGen gnomAD |
|
|
rs758765255 CA7070352 |
301 | R>T | No |
ClinGen ExAC gnomAD |
|
|
rs1357487610 CA388842101 |
303 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1404797409 CA388842103 |
304 | E>K | No |
ClinGen gnomAD |
|
|
CA7070354 rs747818618 |
305 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA7070353 rs376399019 |
305 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7070356 rs777308493 |
306 | D>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 306 | D>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA388842128 rs1304481644 |
307 | T>I | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 309 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1355965831 CA388842154 |
311 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
CA388842164 rs1410446045 |
313 | E>* | No |
ClinGen TOPMed |
|
|
rs1221216648 CA388842180 |
315 | C>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA7070358 rs770888169 |
316 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs1201892006 CA388842192 |
317 | P>S | No |
ClinGen gnomAD |
|
|
CA7070362 rs775808542 |
318 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs3752107 CA7070363 |
319 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs764287690 CA7070364 |
320 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs761811674 CA7070366 |
321 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs761811674 CA257282296 |
321 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7070367 rs765709351 |
322 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs143253585 CA7070368 |
323 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA388842235 rs377378655 |
325 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7070369 rs377378655 |
325 | P>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs3993409 CA7070371 |
326 | M>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA7070372 rs755787826 |
326 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM3667262 CA7070370 rs3993409 |
326 | M>V | liver [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA257282337 rs958502923 |
328 | G>A | No |
ClinGen Ensembl |
|
|
rs139333511 CA7070373 |
328 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA388842254 rs139333511 |
328 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA388842262 rs1439063173 |
329 | S>L | No |
ClinGen TOPMed gnomAD |
|
|
rs3993410 CA257282339 |
331 | E>K | No |
ClinGen Ensembl |
|
|
rs778956714 CA7070376 |
332 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA7070375 rs564771391 |
332 | E>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA257282350 rs991010360 |
333 | P>A | No |
ClinGen gnomAD |
|
|
CA388842295 rs991010360 |
333 | P>S | No |
ClinGen gnomAD |
|
|
CA7070378 rs531937279 |
336 | T>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7070377 rs745825993 |
336 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA388842623 rs1341903534 |
338 | H>P | No |
ClinGen TOPMed |
|
|
rs375258220 CA7070404 |
340 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs766815591 CA7070406 |
341 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs367909816 CA388842670 |
344 | E>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 344 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs756961916 CA7070411 |
346 | R>S | No |
ClinGen ExAC gnomAD |
|
|
CA7070409 rs767798245 |
346 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA388842701 rs1194396906 |
349 | E>A | No |
ClinGen TOPMed |
|
|
CA7070413 rs371654561 |
349 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA388842707 rs1447908068 |
350 | R>* | No |
ClinGen TOPMed gnomAD |
|
|
CA7070415 rs780099139 |
350 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7070414 rs757983101 |
350 | R>T | No |
ClinGen ExAC gnomAD |
|
|
rs746942506 CA7070416 |
351 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs746942506 CA388842714 |
351 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs1221243845 CA388842747 |
355 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
rs866183657 CA257284579 |
361 | Y>D | No |
ClinGen Ensembl |
|
|
CA388842793 rs1335924754 |
362 | H>L | No |
ClinGen gnomAD |
|
|
CA388842798 rs1392862626 |
363 | V>M | No |
ClinGen gnomAD |
|
|
CA7070419 rs748043391 |
364 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs368934136 CA7070421 |
366 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7070422 rs749299960 |
367 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA7070423 rs771034163 |
367 | R>S | No |
ClinGen ExAC gnomAD |
|
|
CA388842829 rs1594845025 |
368 | R>G | No |
ClinGen Ensembl |
|
|
CA7070424 rs371412905 |
369 | H>Y | No |
ClinGen ESP ExAC gnomAD |
|
|
CA388842843 rs1263011178 |
370 | R>G | No |
ClinGen gnomAD |
|
|
CA7070426 rs759940081 |
370 | R>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7070425 rs759940081 |
370 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7070427 rs145387476 |
371 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs200073551 CA7070428 |
372 | H>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA388842867 rs200728824 |
373 | H>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs374285151 CA7070430 |
374 | E>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA388842891 rs1403779574 |
377 | R>P | No |
ClinGen gnomAD |
|
|
CA7070431 rs112653680 |
377 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1171999457 CA388842925 |
382 | S>N | No |
ClinGen TOPMed |
|
|
rs1355405550 CA388842927 |
382 | S>R | No |
ClinGen Ensembl |
|
|
CA388842936 rs1594845241 |
384 | D>N | No |
ClinGen Ensembl |
|
|
CA388842954 rs1395435646 |
386 | Q>* | No |
ClinGen gnomAD |
|
|
CA388842983 rs1284763155 |
390 | K>E | No |
ClinGen gnomAD |
|
| TCGA novel | 391 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs754867855 CA7070434 |
391 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs781249757 CA7070435 |
392 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1280855111 CA388843004 |
393 | G>A | No |
ClinGen gnomAD |
|
|
rs1280855111 CA388843003 |
393 | G>D | No |
ClinGen gnomAD |
|
|
rs777934829 CA7070438 |
395 | D>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755908505 CA7070437 |
395 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 397 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7070440 rs143978425 |
398 | K>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1271251801 CA388843051 |
400 | G>E | No |
ClinGen gnomAD |
|
|
CA388843057 rs746015015 |
401 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA7070442 rs746015015 |
401 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA388843067 rs1566773627 |
402 | Q>R | No |
ClinGen Ensembl |
|
|
CA388843093 rs1237393669 |
403 | D>G | No |
ClinGen TOPMed |
|
|
CA7070444 rs772399317 |
403 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1011831369 CA257284715 |
405 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA7070448 rs544447756 |
407 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs769164771 CA7070447 |
407 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs766121292 CA7070450 |
409 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
| rs1227258446 | 409 | E>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs140894742 CA7070451 |
411 | M>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7070452 rs759100983 |
413 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA7070453 rs767291578 |
415 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA7070455 rs529954434 |
417 | A>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA7070456 rs777523591 |
417 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA388843354 rs1486867009 |
422 | D>N | No |
ClinGen gnomAD |
|
|
CA388843371 rs1187208983 |
423 | S>G | No |
ClinGen gnomAD |
|
|
CA7070460 rs745864012 |
424 | P>L | No |
ClinGen ExAC |
|
|
rs148684815 COSM106481 CA257284823 |
424 | P>S | skin [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
CA388843417 rs1165233574 |
426 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
rs144828938 CA7070464 |
427 | R>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7070465 rs769324458 |
428 | K>E | No |
ClinGen ExAC gnomAD |
|
|
COSM945700 CA388843455 rs1346627869 |
430 | R>* | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs777130407 CA7070466 |
430 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762327211 CA7070467 |
432 | A>E | No |
ClinGen ExAC gnomAD |
|
|
CA257284858 rs912259623 |
433 | N>K | No |
ClinGen TOPMed gnomAD |
|
|
CA7070468 rs770433580 |
434 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA7070485 rs770227782 |
435 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7070486 rs773827734 |
436 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA388843649 rs1470399560 |
436 | R>W | No |
ClinGen gnomAD |
|
|
rs1481104736 CA388843661 |
438 | A>D | No |
ClinGen gnomAD |
|
|
CA388843660 rs1409355590 |
438 | A>S | No |
ClinGen gnomAD |
|
|
CA388843658 rs1409355590 |
438 | A>T | No |
ClinGen gnomAD |
|
|
CA7070488 rs771664385 |
440 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs760240570 CA7070490 |
443 | D>H | No |
ClinGen ExAC gnomAD |
|
|
rs763948700 CA7070491 |
443 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA388843703 rs1443391816 |
445 | G>R | No |
ClinGen gnomAD |
|
|
CA388843714 rs1249812353 |
446 | A>V | No |
ClinGen TOPMed |
|
|
CA7070492 rs776576957 |
447 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA7070493 rs761464068 |
447 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750224486 CA7070495 |
449 | R>* | No |
ClinGen ExAC gnomAD |
|
|
rs370142973 CA7070497 |
449 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs370142973 CA7070496 |
449 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7070498 rs118093178 |
450 | A>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs373072777 CA7070500 |
451 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs748713506 CA7070501 |
451 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748713506 CA388843747 |
451 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA388843746 rs748713506 |
451 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7070506 rs200586196 |
455 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7070507 rs746478058 |
456 | N>Y | No |
ClinGen ExAC gnomAD |
|
|
CA7070508 rs201229742 |
457 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 457 | R>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs776164523 CA7070510 |
459 | I>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA388843832 rs776164523 |
459 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA388843861 rs1396020199 |
461 | K>* | No |
ClinGen TOPMed |
|
|
CA257286221 rs201743180 |
464 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA7070514 rs773046796 COSM3417402 |
465 | S>L | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA388843913 rs773046796 |
465 | S>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA388843921 rs1340049564 |
466 | G>E | No |
ClinGen gnomAD |
|
| TCGA novel | 467 | T>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7070516 rs369708380 |
467 | T>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA388843948 rs1165158917 |
469 | P>S | No |
ClinGen gnomAD |
|
|
rs751861679 CA7070517 |
470 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA7070518 rs759642355 |
471 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767684952 CA7070519 |
473 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 473 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs767684952 CA257286264 |
473 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7070521 rs752763280 |
475 | A>V | No |
ClinGen ExAC TOPMed |
No associated diseases with Q9H1J1
1 regional properties for Q9H1J1
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | UPF3 domain | 68 - 225 | IPR005120 |
7 GO annotations of cellular component
| Name | Definition |
|---|---|
| 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. |
| exon-exon junction complex | A multi-subunit complex deposited by the spliceosome upstream of messenger RNA exon-exon junctions. The exon-exon junction complex provides a binding platform for factors involved in mRNA export and nonsense-mediated mRNA decay. |
| 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. |
| 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. |
| nucleus | A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent. |
2 GO annotations of molecular function
| Name | Definition |
|---|---|
| mRNA binding | Binding to messenger RNA (mRNA), an intermediate molecule between DNA and protein. mRNA includes UTR and coding sequences, but does not contain introns. |
| telomeric DNA binding | Binding to a telomere, a specific structure at the end of a linear chromosome required for the integrity and maintenance of the end. |
3 GO annotations of biological process
| Name | Definition |
|---|---|
| mRNA transport | The directed movement of mRNA, messenger ribonucleic acid, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. |
| nucleocytoplasmic transport | The directed movement of molecules between the nucleus and the cytoplasm. |
| positive regulation of translation | Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of proteins by the translation of mRNA or circRNA. |
1 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q9BZI7 | UPF3B | Regulator of nonsense transcripts 3B | Homo sapiens (Human) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MRSEKEGAGG | LRAAVAARGP | SGREKLSALE | VQFHRDSQQQ | EAETPPTSSS | GCGGGAGKPR |
| 70 | 80 | 90 | 100 | 110 | 120 |
| EEKRTALSKV | VIRRLPPGLT | KEQLEEQLRP | LPAHDYFEFF | AADLSLYPHL | YSRAYINFRN |
| 130 | 140 | 150 | 160 | 170 | 180 |
| PDDILLFRDR | FDGYIFLDSK | GLEYPAVVEF | APFQKIAKKK | LRKKDAKTGS | IEDDPEYKKF |
| 190 | 200 | 210 | 220 | 230 | 240 |
| LETYCVEEEK | TSANPETLLG | EMEAKTRELI | ARRTTPLLEY | IKNRKLEKQR | IREEKREERR |
| 250 | 260 | 270 | 280 | 290 | 300 |
| RRELEKKRLR | EEEKRRRREE | ERCKKKETDK | QKKIAEKEVR | IKLLKKPEKG | EEPTTEKPKE |
| 310 | 320 | 330 | 340 | 350 | 360 |
| RGEEIDTGGG | KQESCAPGAV | VKARPMEGSL | EEPQETSHSG | SDKEHRDVER | SQEQESEAQR |
| 370 | 380 | 390 | 400 | 410 | 420 |
| YHVDDGRRHR | AHHEPERLSR | RSEDEQRWGK | GPGQDRGKKG | SQDSGAPGEA | MERLGRAQRC |
| 430 | 440 | 450 | 460 | 470 | |
| DDSPAPRKER | LANKDRPALQ | LYDPGARFRA | RECGGNRRIC | KAEGSGTGPE | KREEAE |