F5GYI3
PR
Gene name |
UBAP1L |
Protein name |
Ubiquitin-associated protein 1-like |
Names |
UBAP-1L |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:390595 |
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 F5GYI3
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-F5GYI3-F1 | Predicted | AlphaFoldDB |
321 variants for F5GYI3
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs1370328974 CA392884165 |
2 | N>D | No |
ClinGen TOPMed |
|
|
rs1334326261 CA392884161 |
2 | N>S | No |
ClinGen gnomAD |
|
|
CA7614244 rs759849185 |
3 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759849185 CA392884153 |
3 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1281429197 CA392884148 |
4 | L>P | No |
ClinGen TOPMed |
|
|
CA7614242 rs771041302 |
5 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA392884134 rs1162892515 |
6 | G>V | No |
ClinGen gnomAD |
|
|
CA7614240 rs778324704 |
8 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA7614241 rs778324704 |
8 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs1158668938 CA392884092 |
13 | K>* | No |
ClinGen TOPMed gnomAD |
|
|
CA271528123 rs1039602974 |
13 | K>R | No |
ClinGen Ensembl |
|
|
CA271528108 rs917887222 |
14 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
rs917887222 CA392884083 |
14 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
CA392884057 rs1182525961 |
18 | G>C | No |
ClinGen gnomAD |
|
|
rs1450972233 CA392884040 |
20 | E>D | No |
ClinGen gnomAD |
|
|
rs988556255 CA14161968 |
21 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1215049758 CA392884030 |
22 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1466706367 CA392884024 |
23 | P>R | No |
ClinGen TOPMed |
|
|
CA392884015 rs1334884289 |
25 | P>A | No |
ClinGen gnomAD |
|
|
CA271528094 rs777086609 |
25 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
CA271528058 rs532115113 |
26 | E>D | No |
ClinGen 1000Genomes |
|
|
rs748869579 CA271528068 |
26 | E>V | No |
ClinGen Ensembl |
|
|
CA271528050 rs557111297 |
27 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA271528047 rs924521048 |
28 | S>G | No |
ClinGen TOPMed |
|
|
rs1041451383 CA271528041 |
29 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA392883993 rs1041451383 |
29 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
rs748472957 CA7614238 |
30 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA392883988 rs1370937551 |
30 | P>S | No |
ClinGen gnomAD |
|
|
CA392883980 rs1438714633 |
31 | A>D | No |
ClinGen TOPMed |
|
|
rs1395285351 CA392883981 |
31 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1184400154 CA392883974 |
32 | C>Y | No |
ClinGen gnomAD |
|
|
CA271527997 rs989793816 |
33 | G>R | No |
ClinGen gnomAD |
|
|
rs1336528334 CA392883962 |
34 | E>* | No |
ClinGen TOPMed |
|
|
CA392883953 rs1158949981 |
35 | V>D | No |
ClinGen gnomAD |
|
|
CA392883946 rs1477549215 |
36 | L>P | No |
ClinGen gnomAD |
|
|
rs1195398808 CA392883938 |
38 | G>R | No |
ClinGen gnomAD |
|
|
CA7614235 rs750085072 |
39 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs1468577368 CA392883933 |
39 | S>P | No |
ClinGen gnomAD |
|
|
rs926829221 CA271527964 |
40 | M>I | No |
ClinGen Ensembl |
|
|
rs968525713 CA271527978 |
40 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
CA271525203 rs896746560 |
41 | H>P | No |
ClinGen TOPMed gnomAD |
|
|
CA392883516 rs1157532117 |
41 | H>Q | No |
ClinGen gnomAD |
|
|
CA271525198 rs768455516 |
42 | D>V | No |
ClinGen Ensembl |
|
|
rs1163754768 CA392883495 |
43 | F>V | No |
ClinGen gnomAD |
|
|
rs1193428988 CA392883460 |
46 | E>K | No |
ClinGen gnomAD |
|
|
CA392883444 rs1459454285 |
47 | R>K | No |
ClinGen gnomAD |
|
|
rs1199240894 CA392883428 |
48 | T>M | No |
ClinGen TOPMed |
|
|
rs1006783942 CA271525190 |
49 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1217819023 CA392883402 |
51 | F>L | No |
ClinGen gnomAD |
|
|
CA392883387 rs1302347778 |
52 | W>* | No |
ClinGen gnomAD |
|
|
rs894674097 CA392883389 |
52 | W>G | No |
ClinGen TOPMed gnomAD |
|
|
rs894674097 CA271525181 |
52 | W>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1362752045 CA392883371 |
53 | V>E | No |
ClinGen TOPMed |
|
|
CA392883368 rs1362752045 |
53 | V>G | No |
ClinGen TOPMed |
|
|
rs1595920924 CA392883377 |
53 | V>L | No |
ClinGen Ensembl |
|
|
CA392883341 rs1231819809 |
55 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA392883306 rs1382103232 |
58 | Q>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1301161282 CA392883295 |
59 | G>A | No |
ClinGen TOPMed |
|
|
CA392883288 rs1455761098 |
60 | P>L | No |
ClinGen gnomAD |
|
|
CA392883276 rs1452956134 |
62 | P>L | No |
ClinGen gnomAD |
|
|
CA271525144 rs1028916194 |
62 | P>S | No |
ClinGen gnomAD |
|
|
rs1595920891 CA392883271 |
63 | Y>S | No |
ClinGen Ensembl |
|
|
rs907163372 CA271525142 |
64 | Q>* | No |
ClinGen TOPMed |
|
|
CA392883263 rs1566967124 |
64 | Q>R | No |
ClinGen Ensembl |
|
|
rs1199822041 CA392883253 |
65 | C>Y | No |
ClinGen gnomAD |
|
|
CA271525139 rs997752042 |
66 | G>S | No |
ClinGen Ensembl |
|
|
CA392883220 rs1595920876 |
67 | D>A | No |
ClinGen Ensembl |
|
|
rs543213099 CA7614209 |
68 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA392883202 rs1259691640 |
68 | P>S | No |
ClinGen gnomAD |
|
|
CA271525120 rs946065640 |
69 | G>E | No |
ClinGen TOPMed |
|
|
rs1290106018 CA392883156 |
71 | A>G | No |
ClinGen TOPMed |
|
|
rs1222247016 CA392883160 |
71 | A>T | No |
ClinGen TOPMed |
|
|
rs1178355155 CA392883151 |
72 | S>P | No |
ClinGen TOPMed |
|
|
rs1249200627 CA392883127 |
73 | A>V | No |
ClinGen TOPMed |
|
|
rs1272856123 CA392883098 |
75 | P>S | No |
ClinGen gnomAD |
|
|
rs1595920829 CA392883079 |
76 | A>G | No |
ClinGen Ensembl |
|
|
rs1416810059 CA392883058 |
77 | W>* | No |
ClinGen TOPMed |
|
|
rs1189115666 CA392883053 |
78 | L>V | No |
ClinGen TOPMed |
|
|
rs577672362 CA271525101 |
80 | L>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs577672362 CA7614207 |
80 | L>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs913817567 CA271525089 |
83 | P>S | No |
ClinGen TOPMed |
|
|
CA392883000 rs1297023603 |
84 | E>K | No |
ClinGen gnomAD |
|
|
rs1595920814 CA392882969 |
85 | H>Q | No |
ClinGen Ensembl |
|
|
CA7614206 rs557531679 |
88 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA271525053 rs534645693 |
90 | A>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7614205 rs534645693 |
90 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA271525027 rs113598604 |
93 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1312789931 CA392882866 |
93 | T>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1377616281 CA392882849 |
94 | I>S | No |
ClinGen gnomAD |
|
|
rs1433453542 CA392882859 |
94 | I>V | No |
ClinGen gnomAD |
|
|
rs1173556633 CA392882836 |
95 | R>T | No |
ClinGen TOPMed gnomAD |
|
|
CA271525022 rs954462322 |
97 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs377016299 CA271524996 |
99 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1324865310 CA392882757 |
99 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs971704211 CA271524993 |
100 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA392882722 rs1486629934 |
102 | Q>E | No |
ClinGen gnomAD |
|
|
rs1195023884 CA392882661 |
105 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1362046758 CA392882607 |
108 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1566967014 CA392882573 |
109 | G>D | No |
ClinGen Ensembl |
|
|
CA392882415 rs1391722685 |
115 | A>V | No |
ClinGen TOPMed |
|
|
CA392882357 rs1454580018 |
117 | S>C | No |
ClinGen gnomAD |
|
|
CA392882311 rs1218924681 |
119 | S>R | No |
ClinGen gnomAD |
|
|
rs894612393 CA271524972 |
121 | E>G | No |
ClinGen TOPMed |
|
|
CA392882260 rs1371288449 |
121 | E>K | No |
ClinGen TOPMed |
|
|
rs1252124253 CA392882115 |
126 | S>N | No |
ClinGen gnomAD |
|
|
rs1333495901 CA392882023 |
129 | Q>* | No |
ClinGen gnomAD |
|
|
CA271524961 rs796698167 CA392882011 |
129 | Q>H | No |
ClinGen gnomAD |
|
|
rs553747951 CA271524947 |
130 | P>A | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA392881982 rs1342801382 |
130 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA7614203 rs767623626 |
134 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA271524914 rs767623626 |
134 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7614202 rs773638566 |
135 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1162907058 CA392881875 |
135 | S>I | No |
ClinGen TOPMed gnomAD |
|
|
CA392881860 rs1263200003 |
136 | P>T | No |
ClinGen TOPMed |
|
|
rs984721844 CA271524906 |
139 | G>C | No |
ClinGen TOPMed gnomAD |
|
|
CA392881799 rs984721844 |
139 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
rs953412830 CA271524905 |
140 | R>L | No |
ClinGen TOPMed |
|
|
CA392881749 rs1181080382 |
141 | R>C | No |
ClinGen gnomAD |
|
|
rs893170315 CA271524904 |
141 | R>H | No |
ClinGen TOPMed |
|
|
CA392881762 rs1181080382 |
141 | R>S | No |
ClinGen gnomAD |
|
|
CA392881719 rs1185694381 |
143 | C>R | No |
ClinGen TOPMed |
|
|
CA392881710 rs1435851219 |
143 | C>Y | No |
ClinGen gnomAD |
|
|
CA392881678 rs1259450325 |
144 | S>L | No |
ClinGen TOPMed |
|
|
CA392881675 rs1434832114 |
145 | L>M | No |
ClinGen TOPMed |
|
|
CA392881668 rs1467775270 |
145 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1430011015 CA392881650 |
146 | D>E | No |
ClinGen TOPMed |
|
|
rs1054082538 CA271524898 |
147 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
CA392881636 rs1595920667 |
148 | L>I | No |
ClinGen Ensembl |
|
|
CA271524895 rs936617771 |
148 | L>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA271524888 rs1029323852 |
149 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
rs976050261 CA392881620 |
149 | R>H | No |
ClinGen gnomAD |
|
|
rs976050261 CA271524886 |
149 | R>P | No |
ClinGen gnomAD |
|
|
CA392881598 rs1239024787 |
150 | G>A | No |
ClinGen gnomAD |
|
|
rs1285292928 CA392881613 |
150 | G>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1285292928 CA392881611 |
150 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1347733903 CA392881582 |
151 | V>E | No |
ClinGen gnomAD |
|
|
rs1334321590 CA392881561 |
152 | R>L | No |
ClinGen gnomAD |
|
|
rs751354132 CA271524881 |
153 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA271524878 rs567916901 |
155 | L>P | No |
ClinGen 1000Genomes |
|
|
rs766584004 CA7614200 |
156 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1394045241 CA392881488 |
157 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1566966900 CA392881470 |
158 | A>E | No |
ClinGen Ensembl |
|
|
rs1323895779 CA392881473 |
158 | A>S | No |
ClinGen gnomAD |
|
|
rs1323895779 CA392881475 |
158 | A>T | No |
ClinGen gnomAD |
|
|
rs1468572172 CA392881445 |
160 | R>Q | No |
ClinGen gnomAD |
|
|
CA392881448 rs1157904492 |
160 | R>W | No |
ClinGen gnomAD |
|
|
rs763106125 CA7614199 |
161 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs933188149 CA271524874 |
161 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
rs1215243920 CA392881402 |
164 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1215243920 CA392881406 |
164 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA271524859 rs551156642 |
168 | V>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7614198 rs551156642 |
168 | V>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA392881339 rs551156642 |
168 | V>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA271524858 rs908898299 |
169 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1199982013 CA392881308 |
170 | R>P | No |
ClinGen TOPMed |
|
|
rs1349193359 CA392881311 |
170 | R>W | No |
ClinGen gnomAD |
|
|
rs537219273 CA392881300 |
171 | P>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs761937299 CA271524847 |
171 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7614196 rs761937299 |
171 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs537219273 CA7614197 |
171 | P>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA392881286 rs1370809269 |
172 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA271524826 rs1035049904 |
173 | A>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1401488937 CA392881277 |
173 | A>T | No |
ClinGen TOPMed |
|
|
CA392881224 rs1192709155 |
176 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
CA392881191 rs1304230722 |
178 | L>F | No |
ClinGen TOPMed |
|
|
CA392881189 rs1345408527 |
178 | L>P | No |
ClinGen TOPMed |
|
|
rs1003040903 CA271524813 |
179 | R>L | No |
ClinGen TOPMed |
|
|
CA392881147 rs1317756895 |
180 | G>D | No |
ClinGen gnomAD |
|
|
CA392881113 rs1373501317 |
182 | R>C | No |
ClinGen TOPMed |
|
|
rs1398827878 CA392881088 |
183 | A>E | No |
ClinGen TOPMed gnomAD |
|
|
CA392881092 rs1398827878 |
183 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1222983981 CA392881040 |
185 | S>R | No |
ClinGen TOPMed |
|
|
rs1158952803 CA392880988 |
188 | P>L | No |
ClinGen gnomAD |
|
|
rs1290829372 CA392880996 |
188 | P>S | No |
ClinGen TOPMed |
|
|
CA271524803 rs1020367032 |
190 | P>R | No |
ClinGen TOPMed |
|
|
CA392880941 rs1488953283 |
191 | A>E | No |
ClinGen Ensembl |
|
|
rs1470554259 CA392880931 |
192 | Q>K | No |
ClinGen TOPMed |
|
|
CA392880910 rs1176793062 |
193 | S>C | No |
ClinGen TOPMed |
|
|
rs1010338099 CA271524801 |
194 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA271524787 rs571729811 |
200 | P>L | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA392880813 rs571729811 |
200 | P>R | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs1340489929 CA392880792 |
202 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
CA392880785 rs1354550034 |
202 | P>L | No |
ClinGen TOPMed |
|
|
CA392880782 rs1270447522 |
203 | A>T | No |
ClinGen gnomAD |
|
|
rs1566966810 CA392880771 |
203 | A>V | No |
ClinGen Ensembl |
|
|
rs1246313770 CA392880723 |
206 | H>Q | No |
ClinGen TOPMed |
|
|
CA392880705 rs1324268252 |
208 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA392880698 rs1216184689 |
208 | A>V | No |
ClinGen TOPMed |
|
|
rs1050328607 CA271524770 |
209 | A>D | No |
ClinGen TOPMed |
|
|
CA392880680 rs1050328607 |
209 | A>V | No |
ClinGen TOPMed |
|
|
rs368426695 CA271524764 |
212 | S>A | No |
ClinGen Ensembl |
|
|
rs1236476110 CA392880641 |
212 | S>L | No |
ClinGen TOPMed |
|
|
CA392880612 rs1414796549 |
214 | P>L | No |
ClinGen gnomAD |
|
|
CA392880607 rs1566966779 |
215 | R>W | No |
ClinGen Ensembl |
|
|
CA392880590 rs1443172510 |
216 | P>S | No |
ClinGen TOPMed |
|
|
CA271524752 rs923123336 |
218 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1167059127 CA392880565 |
218 | T>M | No |
ClinGen TOPMed gnomAD |
|
|
CA392880569 rs923123336 |
218 | T>P | No |
ClinGen TOPMed gnomAD |
|
|
CA392880552 rs1452834417 |
221 | A>T | No |
ClinGen TOPMed |
|
|
rs559319947 CA271524749 |
221 | A>V | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs1595920497 CA392880547 |
222 | I>L | No |
ClinGen Ensembl |
|
|
rs548909411 CA271524745 |
223 | P>L | No |
ClinGen 1000Genomes |
|
|
rs1270599098 CA392880540 |
223 | P>S | No |
ClinGen TOPMed |
|
|
rs1036048322 CA271524740 |
224 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA271524735 rs529163777 |
225 | L>P | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs529163777 CA392880527 |
225 | L>R | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA392880525 rs1256099034 |
226 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
rs1441003951 CA392880493 |
229 | K>R | No |
ClinGen TOPMed |
|
|
rs1438801740 CA392880477 |
230 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
CA392880468 rs1243100046 |
230 | P>L | No |
ClinGen TOPMed |
|
|
rs1337046297 CA392880430 |
233 | A>T | No |
ClinGen gnomAD |
|
|
CA271524716 rs966258179 |
233 | A>V | No |
ClinGen Ensembl |
|
|
rs748894713 CA392879546 |
237 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA392879537 rs545763415 |
237 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs545763415 CA7614188 |
237 | P>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7614189 rs748894713 |
237 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA392879490 rs1595919761 |
239 | T>S | No |
ClinGen Ensembl |
|
|
rs1039493132 CA271523018 |
241 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA392879418 rs1461022522 |
242 | P>L | No |
ClinGen gnomAD |
|
|
rs1287401273 CA392879383 |
244 | L>F | No |
ClinGen TOPMed |
|
|
CA392879338 rs1555409131 |
246 | G>A | No |
ClinGen Ensembl |
|
|
CA271522985 rs267604287 |
251 | L>F | No |
ClinGen Ensembl |
|
|
rs1595919741 CA392879243 |
252 | N>T | No |
ClinGen Ensembl |
|
|
CA7614181 rs751320840 |
253 | P>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA392879218 rs751320840 |
253 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs148711408 CA7614180 |
254 | H>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA271522960 rs533895547 |
261 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7614179 rs533895547 |
261 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7614178 rs750641093 |
264 | L>Q | No |
ClinGen ExAC |
|
|
rs759205019 CA7614177 |
267 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761849216 CA7614176 |
269 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs1353767470 CA392878792 |
269 | S>R | No |
ClinGen gnomAD |
|
|
rs774149546 CA271522929 |
271 | E>K | No |
ClinGen gnomAD |
|
|
CA392878555 rs1466898983 |
274 | D>E | No |
ClinGen gnomAD |
|
|
CA392878512 rs1423670974 |
276 | I>S | No |
ClinGen gnomAD |
|
|
CA392878516 rs1423670974 |
276 | I>T | No |
ClinGen gnomAD |
|
|
CA392878445 rs1323163589 |
279 | V>M | No |
ClinGen TOPMed |
|
|
rs1475132459 CA392878400 |
280 | V>F | No |
ClinGen gnomAD |
|
|
rs1475132459 CA392878409 |
280 | V>I | No |
ClinGen gnomAD |
|
|
COSM1588045 CA392878393 COSM1588044 rs1184176972 |
281 | A>T | endometrium [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA7614174 rs764531829 |
287 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM3744706 COSM3744707 rs1232707896 CA392878198 |
287 | R>Q | liver [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
CA271522904 rs776155238 |
289 | A>T | No |
ClinGen TOPMed |
|
|
rs1202650236 CA392878141 |
289 | A>V | No |
ClinGen gnomAD |
|
|
CA271522878 rs1057050336 |
290 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
CA7614173 rs761096070 |
290 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA271522858 rs924404019 |
292 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1228869808 CA392878058 |
295 | K>M | No |
ClinGen gnomAD |
|
|
CA392878010 rs1458850821 |
298 | R>S | No |
ClinGen TOPMed |
|
|
rs1595919660 CA392877975 |
299 | Q>H | No |
ClinGen Ensembl |
|
|
rs775854388 CA7614172 |
300 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA271522850 rs1042885921 |
301 | L>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1448469398 CA392877924 |
302 | S>R | No |
ClinGen gnomAD |
|
|
CA392875917 rs1595918021 |
305 | L>V | No |
ClinGen Ensembl |
|
|
CA392875888 rs1366373750 |
306 | S>G | No |
ClinGen TOPMed |
|
|
rs1313607388 CA392875848 |
307 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1381159034 CA392875824 |
308 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA392875769 rs1244567916 |
310 | A>P | No |
ClinGen gnomAD |
|
|
rs1566964685 CA392875766 |
310 | A>V | No |
ClinGen Ensembl |
|
|
CA392875759 rs1224740667 |
311 | C>G | No |
ClinGen TOPMed |
|
|
CA271519969 rs966234556 |
311 | C>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs1296865729 CA392875740 |
312 | D>N | No |
ClinGen gnomAD |
|
|
CA7614159 rs757493430 |
313 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs868023890 CA271519963 |
313 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
rs560971925 CA7614158 |
316 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA271519962 rs972027429 |
316 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
CA392875631 rs560971925 |
316 | R>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
COSM1135708 CA392875596 rs1177138438 COSM1135709 |
317 | Q>H | kidney [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA271519958 rs908146286 |
317 | Q>R | No |
ClinGen Ensembl |
|
|
rs1427977695 CA392875517 |
320 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
CA392875512 rs1390363366 |
321 | E>K | No |
ClinGen Ensembl |
|
|
CA392875493 rs1261184748 |
322 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
CA392875480 rs1195711206 |
322 | G>V | No |
ClinGen gnomAD |
|
|
CA271519956 rs750709741 |
325 | D>G | No |
ClinGen gnomAD |
|
|
CA392875404 rs1176476285 |
326 | E>V | No |
ClinGen TOPMed |
|
|
CA7614157 rs764081191 |
328 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA7614155 rs371000445 |
331 | F>L | No |
ClinGen ESP ExAC gnomAD |
|
|
CA392875236 rs1248255083 |
333 | F>I | No |
ClinGen TOPMed |
|
|
rs768121441 CA392875178 |
335 | E>* | No |
ClinGen ExAC gnomAD |
|
|
rs768121441 CA7614153 |
335 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1340872468 CA392875129 |
336 | S>N | No |
ClinGen gnomAD |
|
|
rs1340872468 CA392875124 |
336 | S>T | No |
ClinGen gnomAD |
|
|
rs774891953 CA7614151 |
337 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs1566964277 CA392874698 |
338 | A>S | No |
ClinGen Ensembl |
|
|
rs947085772 CA271518776 |
341 | F>L | No |
ClinGen TOPMed |
|
|
CA7614149 rs761570996 |
342 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA7614148 rs547893922 |
343 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
COSM1134017 CA271518716 rs573485318 COSM434151 |
343 | R>H | breast [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
CA392874501 rs1259363563 |
344 | L>F | No |
ClinGen gnomAD |
|
|
rs1198731499 CA392874477 |
345 | W>* | No |
ClinGen gnomAD |
|
|
rs765734780 CA271518704 |
345 | W>* | No |
ClinGen TOPMed gnomAD |
|
|
rs976090793 CA271518689 |
346 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA7614147 rs768048340 |
347 | Q>* | No |
ClinGen ExAC |
|
|
rs1284107054 CA392874410 |
348 | F>V | No |
ClinGen gnomAD |
|
|
CA7614146 rs531321491 |
349 | S>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1342602057 CA392874343 |
350 | D>Y | No |
ClinGen gnomAD |
|
|
CA7614144 rs772075791 |
351 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs1446252763 CA392874223 |
353 | F>V | No |
ClinGen gnomAD |
|
|
rs965536840 CA392874105 |
355 | Q>E | No |
ClinGen TOPMed gnomAD |
|
|
CA271518662 rs965536840 |
355 | Q>K | No |
ClinGen TOPMed gnomAD |
|
|
CA392873948 rs146110693 |
357 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA7614141 rs146110693 |
357 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs543813172 CA7614142 |
357 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1368781715 CA392873919 |
358 | I>N | No |
ClinGen gnomAD |
|
|
CA271518618 rs917853664 |
360 | E>K | No |
ClinGen TOPMed |
|
|
CA392873608 rs1178930118 |
366 | G>S | No |
ClinGen gnomAD |
|
|
CA392873584 rs1422709524 |
367 | N>D | No |
ClinGen gnomAD |
|
|
CA392873569 rs1450292477 |
367 | N>S | No |
ClinGen TOPMed |
|
|
rs1467618416 CA392873550 |
368 | R>C | No |
ClinGen gnomAD |
|
|
rs543704665 CA7614139 |
368 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs752865834 CA7614137 |
369 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs577858801 CA7614136 |
369 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA392873522 rs1375225750 |
370 | E>K | No |
ClinGen gnomAD |
|
|
rs1311712666 CA392873479 |
371 | Q>R | No |
ClinGen gnomAD |
|
|
rs760147575 CA7614134 |
372 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA271518547 rs963808214 |
374 | E>A | No |
ClinGen TOPMed gnomAD |
|
|
CA271518542 rs1017925951 |
377 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
CA271518543 rs1017925951 |
377 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1406959235 CA392873212 |
379 | C>W | No |
ClinGen gnomAD |
|
|
CA7614133 rs190050733 |
380 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs766855366 CA7614132 |
380 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
No associated diseases with F5GYI3
1 regional properties for F5GYI3
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | UMA domain | 4 - 50 | IPR023340 |
1 GO annotations of cellular component
| Name | Definition |
|---|---|
| ESCRT I complex | An endosomal sorting complex required for transport. It consists of the class E vacuolar protein sorting (Vps) proteins and interacts with ubiquitinated cargoes. |
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 |
|---|---|
| ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway | The chemical reactions and pathways resulting in the breakdown of a protein or peptide covalently tagged with ubiquitin, via the multivesicular body (MVB) sorting pathway; ubiquitin-tagged proteins are sorted into MVBs, and delivered to a lysosome/vacuole for degradation. |
1 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q9NZ09 | UBAP1 | Ubiquitin-associated protein 1 | Homo sapiens (Human) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MNALDGVPFK | LPKGFVIGTE | PLPGPELSVP | ACGEVLLGSM | HDFSLERTAL | FWVEAAGQGP |
| 70 | 80 | 90 | 100 | 110 | 120 |
| SPYQCGDPGT | ASAPPAWLLL | VSPEHGLAPA | PTTIRDPEAG | HQERPEEEGE | DEAEASSGSE |
| 130 | 140 | 150 | 160 | 170 | 180 |
| EEPAPSSLQP | GSPASPGPGR | RLCSLDVLRG | VRLELAGARR | RLSEGKLVSR | PRALLHGLRG |
| 190 | 200 | 210 | 220 | 230 | 240 |
| HRALSLCPSP | AQSPRSASPP | GPAPQHPAAP | ASPPRPSTAG | AIPPLRSHKP | TVASLSPYTC |
| 250 | 260 | 270 | 280 | 290 | 300 |
| LPPLGGAPQP | LNPHKSHPDT | AADLLSALSQ | EEQDLIGPVV | ALGYPLRRAI | IALQKTGRQS |
| 310 | 320 | 330 | 340 | 350 | 360 |
| LSQFLSYLSA | CDRLLRQGYE | EGLVDEAMEM | FQFSESQAGE | FLRLWEQFSD | MGFQQDRIKE |
| 370 | 380 | ||||
| VLLVHGNRRE | QALEELVACA | Q |