Q5T124
PR
Gene name |
UBXN11 (SOC, UBXD5, PP2243) |
Protein name |
UBX domain-containing protein 11 |
Names |
Colorectal tumor-associated antigen COA-1, Socius, UBX domain-containing protein 5 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:91544 |
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
1 structures for Q5T124
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q5T124-F1 | Predicted | AlphaFoldDB |
534 variants for Q5T124
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs373263016 CA703290 |
3 | S>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA703289 rs562104754 |
4 | P>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA19730782 rs551857760 |
4 | P>L | No |
ClinGen 1000Genomes |
|
|
rs1315553866 CA339132140 |
6 | A>T | No |
ClinGen gnomAD |
|
| TCGA novel | 6 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1370504863 CA339132095 |
8 | L>F | No |
ClinGen gnomAD |
|
|
CA339132074 rs1570130590 |
9 | S>I | No |
ClinGen Ensembl |
|
| TCGA novel | 10 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs200760163 CA19730774 |
11 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA703286 rs369398037 |
12 | R>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA339132015 rs369398037 |
12 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs376498767 CA703283 |
12 | R>P | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs376498767 CA703284 |
12 | R>Q | No |
ClinGen ESP TOPMed gnomAD |
|
| TCGA novel | 13 | K>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs764650512 CA703282 |
17 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA703281 rs201437983 |
18 | S>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA339131893 rs767971948 |
19 | E>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA703279 rs767971948 |
19 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA339131834 rs1176294965 |
21 | M>I | No |
ClinGen TOPMed |
|
|
rs199686425 CA19730690 |
21 | M>V | No |
ClinGen TOPMed |
|
|
rs185509270 CA703277 |
24 | G>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs759879761 CA703260 |
25 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA339130920 rs1291203700 |
26 | R>* | No |
ClinGen gnomAD |
|
|
CA703259 rs370089790 |
26 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1254218129 CA339130884 |
27 | G>V | No |
ClinGen gnomAD |
|
|
rs762543495 CA703257 |
29 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs542541985 CA703255 |
29 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs542541985 CA703256 |
29 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA339130842 rs542541985 |
29 | R>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs372063829 CA703254 |
30 | I>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA703253 rs776542320 |
31 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA339130740 rs1257820787 |
33 | D>A | No |
ClinGen TOPMed gnomAD |
|
|
CA19729728 rs796541942 |
33 | D>E | No |
ClinGen Ensembl |
|
|
rs768582909 CA703252 |
34 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs370927575 CA19729064 |
35 | D>V | No |
ClinGen ESP TOPMed |
|
|
rs780664558 CA703224 |
37 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA703223 rs758682689 |
39 | M>I | No |
ClinGen ExAC |
|
|
rs558442718 CA703222 |
41 | S>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA339130291 rs1228344671 |
43 | G>R | No |
ClinGen TOPMed |
|
|
CA339130256 rs1452603011 |
44 | C>R | No |
ClinGen gnomAD |
|
|
CA19729050 rs386629730 |
46 | S>L | No |
ClinGen Ensembl |
|
|
rs150337275 CA703220 |
46 | S>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1260849517 CA339130143 |
47 | E>G | No |
ClinGen gnomAD |
|
|
rs369832089 CA703217 |
48 | E>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA703216 rs377705110 |
49 | K>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1484033026 CA339130086 |
49 | K>R | No |
ClinGen gnomAD |
|
| TCGA novel | 50 | I>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1177035451 CA339130059 |
50 | I>T | No |
ClinGen gnomAD |
|
|
rs1398308095 CA339130042 |
51 | S>P | No |
ClinGen TOPMed |
|
|
CA339130015 rs1232962511 |
52 | V>I | No |
ClinGen gnomAD |
|
|
rs374530189 CA703215 |
53 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs963268878 CA19729034 |
54 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1299145779 CA339129911 |
55 | C>S | No |
ClinGen gnomAD |
|
|
rs368693459 CA703214 |
56 | Y>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA339129853 rs762094332 |
58 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs770099463 CA703212 |
58 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs762094332 CA703211 |
58 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA339129843 rs1392175075 |
59 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
CA703210 rs776961014 |
59 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1312550345 CA339129850 |
59 | I>V | No |
ClinGen gnomAD |
|
|
rs768604542 CA703209 |
60 | G>S | No |
ClinGen ExAC gnomAD |
|
|
COSM907618 CA703206 rs536230329 |
65 | R>Q | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA gnomAD |
|
CA703207 rs141351708 |
65 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1436437454 CA339129751 |
66 | Q>* | No |
ClinGen TOPMed |
|
|
rs1334103692 CA339128695 |
69 | A>E | No |
ClinGen gnomAD |
|
|
CA339128690 rs780719842 |
70 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1385004996 CA339128693 |
70 | S>P | No |
ClinGen TOPMed gnomAD |
|
|
rs780719842 CA703180 |
70 | S>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA703178 rs751528344 |
71 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs965615510 CA19726034 |
71 | H>Y | No |
ClinGen Ensembl |
|
|
rs912800179 CA19726019 |
72 | D>N | No |
ClinGen Ensembl |
|
|
rs766490537 CA703177 |
73 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA703175 rs750242600 |
77 | A>D | No |
ClinGen ExAC gnomAD |
|
|
rs1177464926 CA339128642 |
78 | F>V | No |
ClinGen gnomAD |
|
| TCGA novel | 78 | F>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA339128635 rs1469304448 |
79 | M>V | No |
ClinGen gnomAD |
|
|
CA703174 rs201705864 |
80 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA339128624 rs201705864 |
80 | T>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA339128620 rs1443580317 |
81 | R>K | No |
ClinGen TOPMed |
|
|
CA703172 rs760985540 |
83 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA339128600 rs1212236662 |
84 | W>R | No |
ClinGen gnomAD |
|
|
CA339128589 rs1285356765 |
85 | D>G | No |
ClinGen gnomAD |
|
|
rs775625884 CA703171 |
85 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
CA703169 rs759680539 |
87 | E>A | No |
ClinGen ExAC gnomAD |
|
|
CA339128577 rs759680539 |
87 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs1570116846 CA339128553 |
90 | V>G | No |
ClinGen Ensembl |
|
|
rs749570063 CA703166 |
90 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs61750046 CA703164 |
92 | A>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs747811633 CA703163 |
92 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA339128528 rs1175009558 |
94 | T>N | No |
ClinGen gnomAD |
|
|
rs1405259052 CA339128530 |
94 | T>S | No |
ClinGen gnomAD |
|
|
CA339128526 rs1557686937 |
95 | D>H | No |
ClinGen Ensembl |
|
|
rs201604792 CA19725919 |
96 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA339128507 rs1487136379 |
97 | I>T | No |
ClinGen gnomAD |
|
|
rs1189014878 CA339128472 |
101 | D>H | No |
ClinGen TOPMed gnomAD |
|
|
CA339128473 rs1189014878 |
101 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1475011779 CA339128450 |
103 | K>N | No |
ClinGen gnomAD |
|
|
rs1255610925 CA339128444 |
104 | I>T | No |
ClinGen gnomAD |
|
|
CA703144 rs569825131 |
105 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA339128429 rs1250808186 |
106 | A>S | No |
ClinGen gnomAD |
|
|
CA339128434 rs1250808186 |
106 | A>T | No |
ClinGen gnomAD |
|
|
rs1315981379 CA339128403 |
108 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1274814202 CA339128395 |
109 | D>N | No |
ClinGen gnomAD |
|
|
rs796372349 CA19725366 |
112 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
rs200623730 CA703142 |
113 | T>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA703141 rs200623730 |
113 | T>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1570115335 CA339128340 |
113 | T>P | No |
ClinGen Ensembl |
|
|
CA339128309 rs1445222690 |
115 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs370469473 CA703140 |
115 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA339128295 rs1397254289 |
117 | H>N | No |
ClinGen gnomAD |
|
|
CA703139 rs779741033 |
117 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA339128286 rs1570115286 |
117 | H>R | No |
ClinGen Ensembl |
|
|
CA339128268 rs1461214523 |
118 | P>L | No |
ClinGen gnomAD |
|
|
rs200557786 CA703120 |
120 | E>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1234284328 CA339128213 |
120 | E>K | No |
ClinGen gnomAD |
|
|
rs1383077317 CA339128205 |
121 | A>T | No |
ClinGen gnomAD |
|
|
CA339128197 rs1296641562 |
122 | T>I | No |
ClinGen gnomAD |
|
|
rs201109849 CA703118 |
122 | T>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs750849839 CA703116 |
124 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA703114 rs374449365 |
125 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA gnomAD |
|
rs576922244 COSM1185371 CA703115 |
125 | R>W | lung [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA703113 rs751764549 |
126 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA703112 rs780204214 |
127 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs758434190 CA703111 |
130 | E>* | No |
ClinGen ExAC |
|
|
CA19725047 rs371399320 |
131 | T>M | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1387227089 CA339128137 |
132 | M>I | No |
ClinGen TOPMed |
|
|
CA339128140 rs1211538283 |
132 | M>T | No |
ClinGen gnomAD |
|
|
rs765725962 CA703109 |
132 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs1209454275 CA339128122 |
134 | V>A | No |
ClinGen gnomAD |
|
|
CA703108 rs373145599 |
135 | Q>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA19725026 rs1004362746 |
135 | Q>H | No |
ClinGen gnomAD |
|
|
CA19725013 rs887365380 |
138 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA339128095 rs1326274529 |
139 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
CA339128096 rs1326274529 |
139 | Q>K | No |
ClinGen TOPMed gnomAD |
|
|
rs754434966 CA703107 |
140 | V>G | No |
ClinGen ExAC |
|
|
rs1046438827 CA19724989 |
141 | R>G | No |
ClinGen gnomAD |
|
|
rs761190738 CA703105 |
141 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA339128079 rs1312378450 |
142 | E>K | No |
ClinGen gnomAD |
|
|
rs924846229 CA339128070 |
143 | M>L | No |
ClinGen TOPMed gnomAD |
|
|
CA19724970 rs924846229 |
143 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
CA339127819 rs1442977022 |
145 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs779877985 CA703075 |
145 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs56039743 CA703074 |
150 | Y>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs565193121 CA19722012 |
153 | Q>H | No |
ClinGen Ensembl |
|
|
rs779251576 CA703073 |
153 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA703072 rs757340890 |
154 | W>R | No |
ClinGen ExAC gnomAD |
|
|
rs1570107535 CA339127751 |
155 | V>G | No |
ClinGen Ensembl |
|
|
rs1158676685 CA521743221 |
156 | G>S | No |
ClinGen gnomAD |
|
|
rs1438585104 CA339127744 |
156 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
CA703070 rs370517093 |
157 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 158 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1469301125 CA339127323 |
165 | E>* | No |
ClinGen TOPMed gnomAD |
|
|
rs6695966 CA703067 VAR_031860 |
165 | E>G | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1315861337 CA339127294 |
167 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
CA339127285 rs1207573170 |
168 | T>P | No |
ClinGen TOPMed |
|
|
rs1219745943 CA339127268 |
169 | V>F | No |
ClinGen gnomAD |
|
|
CA19721999 rs749958289 |
170 | S>L | No |
ClinGen gnomAD |
|
|
rs1228861073 CA339127243 |
171 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1285165984 CA339127217 |
172 | H>L | No |
ClinGen TOPMed gnomAD |
|
|
CA703064 rs201526751 |
174 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA703063 rs762387598 |
175 | R>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA19721954 rs199850111 |
177 | W>* | No |
ClinGen TOPMed |
|
|
CA19721952 rs1026253236 |
178 | M>V | No |
ClinGen TOPMed |
|
|
rs867927412 CA19721950 |
179 | T>I | No |
ClinGen TOPMed |
|
|
CA19721943 rs972294509 |
180 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA703062 rs772727648 |
181 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs1433983704 CA339127067 |
182 | K>* | No |
ClinGen gnomAD |
|
|
rs765119218 CA703061 |
187 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs373338321 CA703035 |
188 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA703032 rs763249461 |
191 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA339126599 rs1242991442 |
193 | P>L | No |
ClinGen TOPMed |
|
|
rs1444991827 CA339126569 |
195 | V>L | No |
ClinGen gnomAD |
|
|
CA339126512 rs1195414556 |
198 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs752323428 CA19715020 |
198 | D>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1570086513 CA339126477 |
201 | L>V | No |
ClinGen Ensembl |
|
|
CA703027 rs748261824 |
202 | A>P | No |
ClinGen ExAC gnomAD |
|
|
rs1166000601 CA339126454 |
203 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1253138102 CA339126433 |
204 | L>M | No |
ClinGen TOPMed |
|
|
CA703025 rs200432041 |
205 | Q>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed |
|
|
CA339126410 rs200432041 |
205 | Q>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed |
|
|
rs890162668 CA19714972 |
206 | D>G | No |
ClinGen Ensembl |
|
|
rs1247931703 CA339126378 |
206 | D>N | No |
ClinGen TOPMed |
|
|
CA19714967 rs142472987 |
207 | L>F | No |
ClinGen 1000Genomes |
|
|
CA339126340 rs1178966120 |
207 | L>R | No |
ClinGen gnomAD |
|
|
CA339126318 rs1481587506 |
208 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
CA339126261 rs1298242708 |
211 | V>M | No |
ClinGen TOPMed |
|
|
CA703022 rs747292215 |
213 | E>* | No |
ClinGen ExAC gnomAD |
|
|
rs1557680629 CA339126194 |
213 | E>D | No |
ClinGen Ensembl |
|
|
rs1456310946 CA339126179 |
214 | G>C | No |
ClinGen gnomAD |
|
|
CA339126160 rs1423380097 |
215 | D>N | No |
ClinGen TOPMed |
|
|
rs780364609 CA703020 |
216 | T>N | No |
ClinGen ExAC gnomAD |
|
|
CA703018 rs750062053 |
217 | Q>* | No |
ClinGen ExAC |
|
|
CA339126069 rs1309987334 |
218 | V>E | No |
ClinGen gnomAD |
|
|
rs1224930595 CA339126039 |
219 | T>I | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 220 | P>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1331321497 CA339125984 |
222 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs763898877 CA703014 |
223 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA19714879 rs931779104 |
223 | G>D | No |
ClinGen Ensembl |
|
|
rs763898877 CA703015 |
223 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752734283 CA703012 |
224 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759472941 CA703010 |
225 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA703011 rs767411129 |
225 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA19714860 rs539223344 |
226 | R>P | No |
ClinGen ExAC gnomAD |
|
|
CA703008 rs539223344 |
226 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA703009 rs566971320 |
226 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs761748179 CA703007 |
228 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA339125874 rs761748179 |
228 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA703006 rs551591220 |
228 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA339125854 rs1210150895 |
229 | T>A | No |
ClinGen gnomAD |
|
|
CA339125857 rs1210150895 |
229 | T>P | No |
ClinGen gnomAD |
|
|
rs768655383 CA339125833 |
230 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA703005 rs768655383 |
230 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs916011692 CA19714847 |
231 | E>* | No |
ClinGen TOPMed gnomAD |
|
|
COSM3804797 rs916011692 CA339125800 |
231 | E>K | Variant assessed as Somatic; impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs746234803 CA703001 |
234 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA703002 rs772419611 |
234 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA339125682 rs1391987187 |
236 | K>Q | No |
ClinGen TOPMed |
|
|
CA702997 rs372332532 |
239 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA702996 rs372332532 COSM172613 |
239 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs748933474 CA702998 |
239 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA702995 rs752681205 |
240 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs1570085987 CA339125476 |
243 | M>I | No |
ClinGen Ensembl |
|
|
rs990905455 CA19714765 |
243 | M>T | No |
ClinGen TOPMed |
|
|
rs1420519934 CA339125468 |
244 | M>V | No |
ClinGen gnomAD |
|
|
CA339125417 rs1437631876 |
246 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs776733262 CA702991 |
247 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA702990 rs765332493 |
251 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA339125287 rs1199453072 |
252 | F>I | No |
ClinGen gnomAD |
|
| TCGA novel | 252 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA702987 rs199562689 |
254 | D>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1284705057 CA339125238 |
255 | P>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs764220088 CA702986 |
256 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA339125206 rs1284641080 |
257 | T>I | No |
ClinGen TOPMed |
|
|
CA19714704 rs973818590 |
258 | Q>* | No |
ClinGen TOPMed |
|
|
rs201515349 CA702940 |
259 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA19714256 rs767572300 |
259 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs767572300 CA702939 |
259 | R>P | No |
ClinGen ExAC gnomAD |
|
|
rs752040302 CA702937 |
261 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA702936 rs375383675 |
262 | R>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs371231338 CA702934 |
262 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA702933 rs770318233 |
264 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1368541449 CA339124926 |
264 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs377538698 CA702932 |
265 | L>S | No |
ClinGen ExAC |
|
|
rs1441211376 CA339124854 |
267 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
CA702929 rs777289297 |
269 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776481715 CA702930 |
269 | F>S | No |
ClinGen ExAC |
|
|
rs1570084184 CA339124802 |
270 | P>S | No |
ClinGen Ensembl |
|
| TCGA novel | 271 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1199797784 CA339124727 |
274 | Q>R | No |
ClinGen gnomAD |
|
|
CA702928 rs746503230 |
275 | R>* | No |
ClinGen ExAC gnomAD |
|
|
CA339124710 rs1256557524 |
275 | R>Q | No |
ClinGen gnomAD |
|
|
rs1357249375 CA339124679 |
277 | Y>H | No |
ClinGen TOPMed gnomAD |
|
|
CA339124647 rs1242650331 |
278 | P>L | No |
ClinGen gnomAD |
|
|
rs866364684 CA19714191 |
278 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs35496937 CA702926 |
279 | N>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA19714190 rs1016025336 |
281 | V>G | No |
ClinGen gnomAD |
|
|
CA339124597 rs1328960037 |
282 | P>S | No |
ClinGen gnomAD |
|
|
rs757103773 CA702923 |
283 | F>C | No |
ClinGen ExAC gnomAD |
|
|
rs1416072927 CA339124543 |
285 | V>A | No |
ClinGen gnomAD |
|
|
rs759092467 CA702886 |
286 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs1236877260 CA339124529 |
286 | S>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1201666790 CA339124507 |
287 | D>E | No |
ClinGen gnomAD |
|
|
CA702884 rs138559558 |
289 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA702885 rs138559558 |
289 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs190924615 CA702883 |
289 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs372888555 CA702882 |
290 | N>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1204323059 CA339124476 |
290 | N>Y | No |
ClinGen TOPMed |
|
|
CA339124447 rs1377770199 |
292 | V>F | No |
ClinGen TOPMed gnomAD |
|
|
CA339124443 rs1377770199 |
292 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA702880 rs769676735 |
293 | Y>D | No |
ClinGen ExAC TOPMed |
|
|
CA702879 rs747181641 |
294 | L>P | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 295 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA702878 rs780386632 |
297 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754479720 CA19712843 |
297 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA339124366 rs780386632 |
297 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA702877 rs200278768 |
298 | L>P | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs1165718552 CA339124287 |
303 | G>V | No |
ClinGen gnomAD |
|
|
CA702876 rs745957138 |
304 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA702874 rs200932097 |
306 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA702873 rs754446866 |
306 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA19712819 rs754446866 |
306 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1225932865 CA339124219 |
308 | V>A | No |
ClinGen gnomAD |
|
|
rs1257937379 CA339124223 |
308 | V>L | No |
ClinGen gnomAD |
|
|
CA339124203 rs1368148624 |
309 | G>V | No |
ClinGen TOPMed |
|
|
rs4332350 CA339124162 |
312 | L>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs4332350 CA702868 |
312 | L>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs4332350 CA702867 VAR_031861 |
312 | L>R | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1378236793 CA339124145 |
313 | M>I | No |
ClinGen gnomAD |
|
|
CA702866 rs199857806 |
315 | K>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1390072919 CA339124100 |
316 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA702865 rs762850734 |
317 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA339124087 rs1363793039 |
318 | D>E | No |
ClinGen gnomAD |
|
|
CA339124089 rs1457593078 |
318 | D>G | No |
ClinGen gnomAD |
|
|
CA339124093 rs1294401937 |
318 | D>N | No |
ClinGen gnomAD |
|
|
rs1160467569 CA339124085 |
319 | R>G | No |
ClinGen gnomAD |
|
|
rs1181463931 CA339124078 |
320 | V>M | No |
ClinGen TOPMed |
|
|
rs773186735 CA702863 |
321 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA339124063 rs1332974452 |
322 | E>* | No |
ClinGen TOPMed gnomAD |
|
|
CA339124058 rs1447194699 |
322 | E>G | No |
ClinGen gnomAD |
|
|
CA339124065 rs1332974452 |
322 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA19712735 rs529239757 |
323 | H>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA702862 rs529239757 |
323 | H>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1196189207 CA339124023 |
324 | P>L | No |
ClinGen TOPMed |
|
|
rs1370266785 CA339123958 |
325 | G>D | No |
ClinGen gnomAD |
|
|
CA702844 rs765232636 |
326 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs1316227565 CA339123930 |
327 | R>G | No |
ClinGen gnomAD |
|
|
rs1450875959 CA339123919 |
327 | R>T | No |
ClinGen TOPMed |
|
|
CA339123877 rs1264992265 |
328 | M>I | No |
ClinGen TOPMed |
|
|
CA702842 rs776520611 |
328 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs768375587 CA19712559 |
330 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs768375587 CA702841 |
330 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs774781970 CA702839 |
331 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA702838 rs771068635 |
332 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA339123688 rs1477907524 |
336 | R>G | No |
ClinGen gnomAD |
|
|
CA19712519 rs1052665633 |
337 | L>I | No |
ClinGen gnomAD |
|
|
rs778095370 CA702836 |
338 | P>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 339 | K>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA702835 rs556044481 |
339 | K>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1260391686 CA339123579 |
340 | F>L | No |
ClinGen gnomAD |
|
|
rs781602317 CA702833 |
340 | F>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 340 | F>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA702832 rs368855501 |
343 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA702829 rs376727355 COSM907615 |
345 | G>D | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA702827 rs749968828 |
346 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA702826 rs765044056 |
347 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs1333053051 CA339123376 |
348 | I>M | No |
ClinGen gnomAD |
|
|
CA19712452 rs929397363 |
348 | I>V | No |
ClinGen TOPMed |
|
|
rs1465835319 CA339123342 |
350 | I>L | No |
ClinGen gnomAD |
|
|
rs772136286 CA702823 |
351 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA702824 COSM73189 rs753768406 |
351 | R>W | ovary Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA339123261 rs963986353 |
353 | P>L | No |
ClinGen gnomAD |
|
|
CA19712439 rs963986353 |
353 | P>R | No |
ClinGen gnomAD |
|
|
rs774659047 CA702821 |
354 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs760552317 CA702822 |
354 | I>N | No |
ClinGen ExAC gnomAD |
|
|
rs911218815 CA19712408 |
357 | T>N | No |
ClinGen Ensembl |
|
|
rs1391293150 CA339121720 |
360 | N>K | No |
ClinGen gnomAD |
|
|
CA339121702 rs1557678511 |
361 | C>Y | No |
ClinGen Ensembl |
|
|
CA702798 rs773368071 |
364 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA339121604 rs1186152840 |
365 | P>L | No |
ClinGen TOPMed |
|
|
rs372393457 CA702797 |
366 | A>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA339121600 rs372393457 |
366 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA702796 rs372743701 |
367 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM184121 CA19710746 rs371990639 |
367 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA702795 rs372743701 |
367 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA339121502 rs1400570848 |
370 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA702794 rs769171435 |
371 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA702793 rs747331978 |
375 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA702791 rs772473973 |
376 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs745520921 CA702790 |
377 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs1263989706 CA339121268 |
379 | A>D | No |
ClinGen gnomAD |
|
|
rs748772070 CA702787 |
380 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs368771477 CA702786 |
382 | R>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs756092849 CA339121190 |
382 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756092849 CA702785 |
382 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA702757 rs1553162757 |
387 | E>K | No |
ClinGen Ensembl |
|
|
rs558654564 CA702755 |
388 | S>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA702754 rs764147178 |
391 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs111606040 CA702752 |
392 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA339120736 rs1354793120 |
392 | P>S | No |
ClinGen TOPMed |
|
|
CA339120692 rs1335073038 |
394 | P>S | No |
ClinGen gnomAD |
|
|
rs76807981 CA19710319 |
395 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs76807981 CA19710332 |
395 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
rs759903974 CA702750 |
395 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA339120643 rs1408339861 |
396 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1416048965 CA339120635 |
396 | L>P | No |
ClinGen gnomAD |
|
|
rs781106308 CA19710295 |
397 | S>F | No |
ClinGen TOPMed |
|
|
rs762678285 CA339120598 |
398 | M>R | No |
ClinGen ExAC gnomAD |
|
|
rs762678285 CA702747 |
398 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA339120580 rs1471346337 |
399 | L>V | No |
ClinGen TOPMed |
|
|
rs773062281 CA19710236 COSM1659496 |
400 | R>C | kidney [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA702745 rs189256251 |
400 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA19710228 rs189256251 |
400 | R>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA702746 rs773062281 |
400 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201777136 CA702744 |
401 | I>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1570073587 CA339120482 |
404 | E>A | No |
ClinGen Ensembl |
|
|
CA19710217 rs932316360 |
408 | Q>R | No |
ClinGen Ensembl |
|
|
rs1305323916 CA339120355 |
413 | M>K | No |
ClinGen gnomAD |
|
|
rs768510187 CA702742 |
414 | M>L | No |
ClinGen ExAC gnomAD |
|
|
rs1382624162 CA339120294 |
416 | P>L | No |
ClinGen gnomAD |
|
|
CA702740 rs779693144 |
418 | N>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA702739 rs758248476 |
419 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA702738 rs372018986 |
420 | I>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA339120203 rs1452384120 |
423 | V>G | No |
ClinGen TOPMed |
|
|
rs185659723 CA339120210 |
423 | V>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs185659723 CA702735 |
423 | V>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA702732 rs752163039 |
424 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA339120192 rs1402871843 |
424 | R>Q | No |
ClinGen TOPMed |
|
|
rs1381314574 CA339120188 |
425 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs766644776 CA702731 |
428 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766644776 CA339120154 |
428 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA702730 rs201808891 |
428 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs772945901 CA702729 |
429 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA702728 rs765008329 |
431 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs758221664 CA702727 |
431 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758221664 CA19710132 |
431 | R>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA702710 rs765739835 |
432 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs1433512659 CA339120082 |
432 | V>I | No |
ClinGen TOPMed |
|
|
rs761538125 CA702709 |
433 | M>R | No |
ClinGen ExAC gnomAD |
|
|
rs761538125 CA339120060 |
433 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs776405229 CA702708 |
435 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 439 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA702705 rs80173211 |
442 | S>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs948328554 CA19709942 |
444 | F>L | No |
ClinGen TOPMed |
|
|
rs1570072848 CA339119887 |
444 | F>S | No |
ClinGen Ensembl |
|
|
rs374453800 CA702704 |
445 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA702702 rs745844837 |
446 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA339119852 rs1428565600 |
447 | T>A | No |
ClinGen gnomAD |
|
|
CA702701 rs774108310 |
447 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA339119853 rs1428565600 |
447 | T>P | No |
ClinGen gnomAD |
|
|
CA702699 rs748311785 |
450 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA702697 rs560998848 |
452 | D>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs989640076 CA339119698 |
453 | T>I | No |
ClinGen TOPMed |
|
|
rs989640076 CA19709892 |
453 | T>R | No |
ClinGen TOPMed |
|
|
CA19709853 rs367697574 |
455 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA702694 rs367697574 |
455 | T>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs780669820 CA702695 |
455 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA339119609 rs1294840829 |
457 | Q>R | No |
ClinGen gnomAD |
|
|
CA702689 rs753366267 |
458 | A>D | No |
ClinGen ExAC gnomAD |
|
|
CA702690 rs757708291 |
458 | A>T | No |
ClinGen ExAC |
|
|
CA339119569 rs1305338772 |
459 | A>V | No |
ClinGen TOPMed |
|
|
rs1468999197 CA339119509 |
461 | L>P | No |
ClinGen gnomAD |
|
|
CA339119513 rs1468999197 |
461 | L>R | No |
ClinGen gnomAD |
|
|
rs752220086 CA339119487 |
462 | V>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752220086 CA702685 |
462 | V>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA702684 rs767061285 |
463 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA19709816 rs889340717 |
463 | P>L | No |
ClinGen Ensembl |
|
|
CA339119430 rs1377647725 |
465 | A>T | No |
ClinGen TOPMed |
|
|
rs1191665344 CA339119398 |
466 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
CA339119395 rs1191665344 |
466 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA339119350 rs1460234932 |
468 | L>R | No |
ClinGen gnomAD |
|
|
CA702681 rs367968435 |
470 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs761120137 CA702679 |
470 | R>Q | No |
ClinGen ExAC TOPMed |
|
|
CA339119324 rs367968435 |
470 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1338898134 CA339119301 |
471 | A>E | No |
ClinGen gnomAD |
|
|
rs747239048 CA339119287 |
472 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA702677 rs747239048 |
472 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780262736 CA702676 |
472 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780262736 CA339119273 |
472 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780262736 CA19709741 |
472 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746374879 COSM680197 CA702675 |
473 | R>* | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs746374879 CA702674 |
473 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA702673 rs200674226 |
473 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| VAR_031862 | 474 | A>V | No | UniProt | |
|
rs778037976 CA702670 |
475 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA702669 rs572966404 |
475 | P>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs767007821 CA702667 |
477 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA339119157 rs1386450333 |
478 | S>I | No |
ClinGen gnomAD |
|
|
rs1386450333 CA339119153 |
478 | S>N | No |
ClinGen gnomAD |
|
|
rs1036080832 CA19709661 |
481 | F>L | No |
ClinGen TOPMed |
|
|
rs374443118 CA702665 |
482 | S>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1394658008 CA339119038 |
484 | G>C | No |
ClinGen TOPMed |
|
|
rs773032805 CA702662 |
484 | G>D | No |
ClinGen ExAC gnomAD |
|
| VAR_031863 | 486 | C>CPGPGPGPS | No | UniProt | |
|
CA19709609 rs981211678 |
486 | C>G | No |
ClinGen TOPMed |
|
|
CA702657 rs72872911 |
486 | C>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed |
|
|
CA702659 rs981211678 |
486 | C>S | No |
ClinGen TOPMed |
|
|
rs1211755663 CA339118955 |
487 | P>H | No |
ClinGen TOPMed gnomAD |
|
|
CA339118951 rs1211755663 |
487 | P>R | No |
ClinGen TOPMed gnomAD |
|
| VAR_031864 | 487 | P>del | No | UniProt | |
|
CA19709556 rs774951344 |
488 | G>A | No |
ClinGen ExAC TOPMed |
|
|
rs745959280 CA702652 |
488 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA702651 rs774951344 |
488 | G>D | No |
ClinGen ExAC TOPMed |
|
|
CA702653 rs745959280 |
488 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| VAR_031865 | 488 | G>del | No | UniProt | |
|
CA702647 rs201454352 |
490 | G>C | No |
ClinGen ExAC TOPMed |
|
|
rs201454352 CA702648 |
490 | G>S | No |
ClinGen ExAC TOPMed |
|
|
rs778183787 CA339118792 |
492 | G>A | No |
ClinGen ExAC TOPMed |
|
|
CA702635 rs1134581 |
492 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1134581 CA339118820 |
492 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA702632 rs1134581 |
492 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778183787 CA702631 |
492 | G>V | No |
ClinGen ExAC TOPMed |
|
|
CA702624 rs747728659 |
493 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA702625 rs747728659 |
493 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA702618 rs1134583 |
494 | S>C | No |
ClinGen TOPMed |
|
|
rs1134583 CA702619 |
494 | S>G | No |
ClinGen TOPMed |
|
|
CA339118739 rs1134583 |
494 | S>R | No |
ClinGen TOPMed |
|
|
rs1557677619 CA339118713 |
494 | S>T | No |
ClinGen Ensembl |
|
|
CA339118679 rs1239340531 |
495 | P>L | No |
ClinGen gnomAD |
|
|
COSM1341323 CA702603 rs188535926 |
496 | G>A | thyroid large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes |
|
rs193142354 CA702605 |
496 | G>C | No |
ClinGen 1000Genomes ExAC TOPMed |
|
|
CA702608 rs193142354 |
496 | G>S | No |
ClinGen 1000Genomes ExAC TOPMed |
|
| TCGA novel | 497 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA702597 rs765850995 |
497 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1570071482 CA339118582 |
498 | G>A | No |
ClinGen Ensembl |
|
|
CA339118596 rs200313935 |
498 | G>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA702593 rs200313935 |
498 | G>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA339118557 rs1326406377 |
499 | P>A | No |
ClinGen gnomAD |
|
|
rs1406292507 CA339118539 |
499 | P>L | No |
ClinGen gnomAD |
|
|
CA339118531 rs201756933 |
500 | G>C | No |
ClinGen TOPMed |
|
|
CA702583 rs201756933 |
500 | G>S | No |
ClinGen TOPMed |
|
|
CA339118492 rs1570071332 |
501 | P>L | No |
ClinGen Ensembl |
|
|
rs61775089 CA702576 |
501 | P>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA339118499 rs61775089 |
501 | P>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs199707978 CA702568 |
502 | S>C | No |
ClinGen TOPMed |
|
|
rs199707978 CA702567 |
502 | S>G | No |
ClinGen TOPMed |
|
|
rs761705997 CA702565 |
502 | S>I | No |
ClinGen ExAC |
|
|
rs761705997 CA702566 |
502 | S>N | No |
ClinGen ExAC |
|
|
rs775798390 CA339118425 |
503 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA702558 rs775798390 |
503 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA702549 rs6667693 |
504 | G>C | No |
ClinGen TOPMed |
|
|
rs767875430 CA702548 |
504 | G>D | No |
ClinGen ExAC |
|
|
CA339118403 rs6667693 |
504 | G>S | No |
ClinGen TOPMed |
|
|
CA339118363 rs1400392889 |
505 | P>T | No |
ClinGen TOPMed |
|
|
rs537852372 CA702535 |
506 | G>C | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs537852372 CA19708882 |
506 | G>S | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs749797248 CA702534 |
506 | G>V | No |
ClinGen ExAC |
|
|
CA339118296 rs773594568 |
507 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs773594568 CA702526 |
507 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA339118263 rs748530362 |
508 | G>A | No |
ClinGen ExAC TOPMed |
|
|
rs61775086 CA339118267 |
508 | G>C | No |
ClinGen TOPMed |
|
|
CA702521 rs748530362 |
508 | G>D | No |
ClinGen ExAC TOPMed |
|
|
rs61775086 CA702523 |
508 | G>S | No |
ClinGen TOPMed |
|
|
rs748530362 CA702522 |
508 | G>V | No |
ClinGen ExAC TOPMed |
|
|
CA702514 VAR_052690 rs1134584 |
509 | P>S | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP |
|
|
rs1193135652 CA339118217 |
510 | S>C | No |
ClinGen TOPMed |
|
|
rs1193135652 CA339118220 |
510 | S>G | No |
ClinGen TOPMed |
|
|
rs746717258 CA702506 |
511 | P>H | No |
ClinGen ExAC |
|
|
rs202134609 CA702501 |
512 | C>G | No |
ClinGen TOPMed |
|
|
rs202134609 CA339118157 |
512 | C>S | No |
ClinGen TOPMed |
|
|
CA702498 rs757916240 |
512 | C>Y | No |
ClinGen ExAC |
|
|
rs1369095731 CA339118114 |
513 | P>R | No |
ClinGen TOPMed |
|
|
CA339118104 rs1421875904 |
514 | G>* | No |
ClinGen TOPMed |
|
|
CA339118108 rs1421875904 |
514 | G>R | No |
ClinGen TOPMed |
|
| TCGA novel | 515 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1557677119 CA339118092 |
515 | P>S | No |
ClinGen Ensembl |
|
|
CA19708746 rs546797422 |
516 | S>G | No |
ClinGen 1000Genomes |
|
|
CA702480 rs765101651 |
516 | S>I | No |
ClinGen ExAC |
|
|
rs757069651 CA702477 |
517 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA702475 rs1557677076 |
518 | S>G | No |
ClinGen Ensembl |
|
|
rs1218579890 CA339118049 |
518 | S>N | No |
ClinGen TOPMed |
|
|
rs1268192870 CA339118043 |
518 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
rs200427548 CA702473 |
519 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs561247812 CA339118013 |
520 | Q>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA339118020 rs1557677051 |
520 | Q>P | No |
ClinGen Ensembl |
No associated diseases with Q5T124
2 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytoskeleton | A cellular structure that forms the internal framework of eukaryotic and prokaryotic cells. The cytoskeleton includes intermediate filaments, microfilaments, microtubules, the microtrabecular lattice, and other structures characterized by a polymeric filamentous nature and long-range order within the cell. The various elements of the cytoskeleton not only serve in the maintenance of cellular shape but also have roles in other cellular functions, including cellular movement, cell division, endocytosis, and movement of organelles. |
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
1 GO annotations of molecular function
| Name | Definition |
|---|---|
| ubiquitin binding | Binding to ubiquitin, a protein that when covalently bound to other cellular proteins marks them for proteolytic degradation. |
1 GO annotations of biological process
| Name | Definition |
|---|---|
| proteasome-mediated ubiquitin-dependent protein catabolic process | The chemical reactions and pathways resulting in the breakdown of a protein or peptide by hydrolysis of its peptide bonds, initiated by the covalent attachment of ubiquitin, and mediated by the proteasome. |
12 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q3SZC4 | NSFL1C | NSFL1 cofactor p47 | Bos taurus (Bovine) | PR |
| Q5ZK10 | NSFL1C | NSFL1 cofactor p47 | Gallus gallus (Chicken) | PR |
| Q14CS0 | UBXN2B | UBX domain-containing protein 2B | Homo sapiens (Human) | PR |
| Q9UNZ2 | NSFL1C | NSFL1 cofactor p47 | Homo sapiens (Human) | PR |
| Q99KJ0 | Ubxn2a | UBX domain-containing protein 2A | Mus musculus (Mouse) | PR |
| Q0KL01 | Ubxn2b | UBX domain-containing protein 2B | Mus musculus (Mouse) | PR |
| Q9CZ44 | Nsfl1c | NSFL1 cofactor p47 | Mus musculus (Mouse) | PR |
| Q9D572 | Ubxn11 | UBX domain-containing protein 11 | Mus musculus (Mouse) | PR |
| O35987 | Nsfl1c | NSFL1 cofactor p47 | Rattus norvegicus (Rat) | PR |
| P0C627 | Ubxn2b | UBX domain-containing protein 2B | Rattus norvegicus (Rat) | PR |
| Q8R512 | Ubxn11 | UBX domain-containing protein 11 | Rattus norvegicus (Rat) | PR |
| F4IXN6 | PUX6 | Plant UBX domain-containing protein 6 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MSSPLASLSK | TRKVPLPSEP | MNPGRRGIRI | YGDEDEVDML | SDGCGSEEKI | SVPSCYGGIG |
| 70 | 80 | 90 | 100 | 110 | 120 |
| APVSRQVPAS | HDSELMAFMT | RKLWDLEQQV | KAQTDEILSK | DQKIAALEDL | VQTLRPHPAE |
| 130 | 140 | 150 | 160 | 170 | 180 |
| ATLQRQEELE | TMCVQLQRQV | REMERFLSDY | GLQWVGEPMD | QEDSESKTVS | EHGERDWMTA |
| 190 | 200 | 210 | 220 | 230 | 240 |
| KKFWKPGDSL | APPEVDFDRL | LASLQDLSEL | VVEGDTQVTP | VPGGARLRTL | EPIPLKLYRN |
| 250 | 260 | 270 | 280 | 290 | 300 |
| GIMMFDGPFQ | PFYDPSTQRC | LRDILDGFFP | SELQRLYPNG | VPFKVSDLRN | QVYLEDGLDP |
| 310 | 320 | 330 | 340 | 350 | 360 |
| FPGEGRVVGR | QLMHKALDRV | EEHPGSRMTA | EKFLNRLPKF | VIRQGEVIDI | RGPIRDTLQN |
| 370 | 380 | 390 | 400 | 410 | 420 |
| CCPLPARIQE | IVVETPTLAA | ERERSQESPN | TPAPPLSMLR | IKSENGEQAF | LLMMQPDNTI |
| 430 | 440 | 450 | 460 | 470 | 480 |
| GDVRALLAQA | RVMDASAFEI | FSTFPPTLYQ | DDTLTLQAAG | LVPKAALLLR | ARRAPKSSLK |
| 490 | 500 | 510 | |||
| FSPGPCPGPG | PGPSPGPGPG | PSPGPGPGPS | PCPGPSPSPQ |