Q9UJY5
Gene name |
GGA1 |
Protein name |
ADP-ribosylation factor-binding protein GGA1 |
Names |
Gamma-adaptin-related protein 1, Golgi-localized, gamma ear-containing, ARF-binding protein 1 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:26088 |
EC number |
|
Protein Class |
GOLGI-LOCALIZED, GAMMA-ADAPTIN EAR CONTAINING, ARF BINDING PROTEIN (PTHR45905) |

Descriptions
The cytosolic adaptors GGA1-3 mediate sorting of transmembrane proteins. GGA1 contains an autoinhibitory region in hinge region between GAT and GAE domains that is activated by the phosphorylation of a serine positioned three residues upstream of the DXXLL motif. Autoinhibition is achieved by the interaction between DXXLL site and the VHS domain in CGGA1, and the phosphoserine upstream of the DXXLL motif facilitates this interaction.
Autoinhibitory domains (AIDs)
Target domain |
8-147 (VHS domain) |
Relief mechanism |
PTM |
Assay |
Mutagenesis experiment, Structural analysis |
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
21 structures for Q9UJY5
Entry ID | Method | Resolution | Chain | Position | Source |
---|---|---|---|---|---|
1J2J | X-ray | 160 A | B | 166-210 | PDB |
1JWF | X-ray | 210 A | A | 1-147 | PDB |
1JWG | X-ray | 200 A | A/B | 1-147 | PDB |
1NA8 | X-ray | 230 A | A/B | 494-639 | PDB |
1NAF | X-ray | 280 A | A | 165-314 | PDB |
1NWM | X-ray | 240 A | X | 166-302 | PDB |
1O3X | X-ray | 210 A | A | 166-305 | PDB |
1OM9 | X-ray | 250 A | A/B | 494-639 | PDB |
1OXZ | X-ray | 280 A | A | 141-326 | PDB |
1PY1 | X-ray | 260 A | A/B/C/D | 2-157 | PDB |
1UJJ | X-ray | 260 A | A/B | 1-147 | PDB |
1UJK | X-ray | 190 A | A/B | 1-147 | PDB |
1X79 | X-ray | 241 A | A | 210-302 | PDB |
2DWX | X-ray | 255 A | PDB | ||
2DWY | X-ray | 230 A | A/B/C/D | 507-639 | PDB |
3G2S | X-ray | 170 A | A/B | 1-147 | PDB |
3G2T | X-ray | 200 A | A/B | 1-147 | PDB |
3G2U | X-ray | 230 A | A/B | 1-147 | PDB |
3G2V | X-ray | 210 A | A/B | 1-147 | PDB |
3G2W | X-ray | 240 A | PDB | ||
AF-Q9UJY5-F1 | Predicted | AlphaFoldDB |
498 variants for Q9UJY5
Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
---|---|---|---|---|---|
CA411449516 rs1601481715 |
2 | E>A | No |
ClinGen Ensembl |
|
CA324125597 rs1000281879 |
2 | E>D | No |
ClinGen Ensembl |
|
rs916788941 CA324125583 |
2 | E>K | No |
ClinGen TOPMed |
|
rs1031819041 CA324125602 |
3 | P>L | No |
ClinGen TOPMed |
|
CA411449532 rs1347433540 |
4 | A>T | No |
ClinGen TOPMed |
|
rs1304029909 CA411449541 |
5 | M>V | No |
ClinGen TOPMed |
|
CA411449560 rs1424301379 |
6 | E>A | No |
ClinGen TOPMed |
|
rs1569192787 CA411449564 |
6 | E>D | No |
ClinGen Ensembl |
|
rs948324945 CA324125605 |
7 | P>S | No |
ClinGen TOPMed |
|
CA411449578 rs1212633135 |
8 | E>Q | No |
ClinGen gnomAD |
|
rs1354633700 CA411449612 |
11 | E>* | No |
ClinGen gnomAD |
|
rs777465269 CA10220857 |
14 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
CA10220881 rs749925397 |
16 | R>I | No |
ClinGen ExAC gnomAD |
|
CA411451461 rs1366414064 |
17 | A>D | No |
ClinGen gnomAD |
|
CA411451515 rs1455938705 |
20 | P>T | No |
ClinGen gnomAD |
|
CA10220885 rs772416767 |
22 | N>K | No |
ClinGen ExAC gnomAD |
|
rs748475787 CA10220884 |
22 | N>S | No |
ClinGen ExAC gnomAD |
|
rs1332264673 CA411451597 |
24 | E>D | No |
ClinGen gnomAD |
|
rs1397915822 CA411451586 |
24 | E>K | No |
ClinGen TOPMed gnomAD |
|
rs747186155 CA10220887 |
26 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
CA411451663 rs1601505839 |
28 | A>P | No |
ClinGen Ensembl |
|
rs1290397398 CA411451678 |
28 | A>V | No |
ClinGen gnomAD |
|
rs776758741 CA10220889 |
29 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
CA411451694 rs1344930712 |
29 | S>R | No |
ClinGen TOPMed |
|
rs759647000 CA10220890 |
31 | N>D | No |
ClinGen ExAC |
|
rs775429217 CA10220892 |
32 | G>S | No |
ClinGen ExAC gnomAD |
|
rs762683852 CA10220893 |
32 | G>V | No |
ClinGen ExAC gnomAD |
|
CA411451816 rs372038788 |
34 | C>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA10220896 rs151193060 |
35 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA10220897 rs767276418 |
36 | Q>R | No |
ClinGen ExAC gnomAD |
|
CA10220898 rs749961784 |
38 | N>S | No |
ClinGen ExAC gnomAD |
|
rs779295283 CA10220900 |
39 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
COSM419562 rs1454217253 CA411451899 |
39 | E>K | urinary_tract [Cosmic] | No |
ClinGen cosmic curated gnomAD |
CA324130367 rs867858200 |
40 | D>N | No |
ClinGen Ensembl |
|
rs532554844 CA10220901 |
41 | F>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs758713338 CA10220902 |
42 | E>K | No |
ClinGen ExAC gnomAD |
|
CA411451978 rs1401616478 |
43 | G>E | No |
ClinGen gnomAD |
|
CA411452728 rs966799325 |
45 | P>L | No |
ClinGen gnomAD |
|
rs966799325 CA324132305 |
45 | P>Q | No |
ClinGen gnomAD |
|
CA324132337 rs376388093 |
47 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA10220927 rs376388093 |
47 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA411452758 rs1354332547 |
49 | R>Q | No |
ClinGen TOPMed |
|
CA10220928 rs756263898 |
49 | R>W | No |
ClinGen ExAC gnomAD |
|
rs1351810828 CA411452781 |
52 | A>G | No |
ClinGen gnomAD |
|
rs1165799382 CA411452775 |
52 | A>T | No |
ClinGen gnomAD |
|
CA411452787 rs1459300884 |
53 | H>Y | No |
ClinGen gnomAD |
|
CA411452813 rs1393368489 |
55 | I>F | No |
ClinGen gnomAD |
|
rs749327909 CA10220930 |
56 | Q>H | No |
ClinGen ExAC gnomAD |
|
rs768774460 CA10220931 COSM1714377 |
58 | P>S | skin [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
CA411452877 rs1362446088 |
61 | W>L | No |
ClinGen gnomAD |
|
rs774375289 CA411452903 |
63 | A>G | No |
ClinGen ExAC gnomAD |
|
rs774375289 CA10220932 |
63 | A>V | No |
ClinGen ExAC gnomAD |
|
rs1415654124 CA411452926 |
66 | A>V | No |
ClinGen TOPMed |
|
rs771955351 CA10220934 COSM1484225 |
68 | T>M | NS breast [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
CA411453346 rs1275694861 |
71 | E>A | No |
ClinGen gnomAD |
|
CA10220970 rs754074917 |
72 | T>A | No |
ClinGen ExAC gnomAD |
|
rs1272331840 CA411453355 |
72 | T>I | No |
ClinGen TOPMed gnomAD |
|
rs1272331840 CA411453354 |
72 | T>R | No |
ClinGen TOPMed gnomAD |
|
CA10220973 rs752795397 |
74 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
CA411453365 rs1469393247 |
74 | M>V | No |
ClinGen TOPMed gnomAD |
|
CA324133442 rs867456719 |
76 | S>R | No |
ClinGen Ensembl |
|
rs758417967 CA10220974 |
77 | C>R | No |
ClinGen ExAC gnomAD |
|
rs1601520952 CA411453391 |
77 | C>Y | No |
ClinGen Ensembl |
|
rs1431264899 CA411453396 |
78 | G>D | No |
ClinGen gnomAD |
|
rs746824920 CA10220976 |
78 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
CA10220978 rs780840986 |
80 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
COSM1034019 CA10220977 rs770591150 |
80 | R>W | endometrium [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
CA10220979 rs745564887 |
81 | F>I | No |
ClinGen ExAC gnomAD |
|
CA10220980 rs769402630 |
82 | H>Q | No |
ClinGen ExAC gnomAD |
|
CA10220981 rs748157403 |
83 | D>N | No |
ClinGen ExAC gnomAD |
|
CA10220983 rs772649417 |
83 | D>V | No |
ClinGen ExAC gnomAD |
|
CA10220982 rs748157403 |
83 | D>Y | No |
ClinGen ExAC gnomAD |
|
rs1203307902 CA411453434 |
84 | E>D | No |
ClinGen gnomAD |
|
rs761136453 CA10220985 COSM1416152 |
84 | E>K | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
CA10220986 rs766603973 |
85 | V>M | No |
ClinGen ExAC gnomAD |
|
rs1437059434 CA411453441 |
86 | G>S | No |
ClinGen gnomAD |
|
rs754232613 CA10220988 |
89 | R>C | No |
ClinGen ExAC gnomAD |
|
rs754232613 CA10220987 |
89 | R>G | No |
ClinGen ExAC gnomAD |
|
CA324133497 rs1006534022 |
92 | N>D | No |
ClinGen Ensembl |
|
rs765552847 CA10220989 |
92 | N>I | No |
ClinGen ExAC gnomAD |
|
CA10220991 rs373156977 |
93 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA411453491 rs1568978006 |
93 | E>V | No |
ClinGen Ensembl |
|
rs1042878999 CA324133522 |
95 | I>V | No |
ClinGen TOPMed gnomAD |
|
CA10220993 rs764123688 |
98 | V>L | No |
ClinGen ExAC gnomAD |
|
CA10220992 rs764123688 |
98 | V>M | No |
ClinGen ExAC gnomAD |
|
rs1406378449 CA411453532 |
100 | P>S | No |
ClinGen gnomAD |
|
CA411453539 rs1255212810 |
101 | K>T | No |
ClinGen gnomAD |
|
rs757940217 CA10221040 |
102 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
rs781770140 CA10221041 |
104 | G>S | No |
ClinGen ExAC gnomAD |
|
CA411453615 rs1181763897 |
106 | R>Q | No |
ClinGen TOPMed gnomAD |
|
CA10221042 rs370012020 |
106 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs551311218 CA10221045 |
108 | S>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA411453635 rs774568469 |
109 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
CA324134674 COSM1416153 rs11543985 |
119 | L>F | large_intestine [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
CA324134673 rs11543985 |
119 | L>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs11543985 CA10221049 |
119 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA324134675 rs1004259728 |
120 | Y>H | No |
ClinGen TOPMed |
|
CA411454191 rs1156474215 |
121 | S>G | No |
ClinGen TOPMed |
|
CA324134683 rs1014678619 |
121 | S>N | No |
ClinGen TOPMed |
|
rs1306264006 CA411454205 |
121 | S>R | No |
ClinGen gnomAD |
|
rs1346455295 CA411454326 |
127 | P>A | No |
ClinGen gnomAD |
|
CA10221055 rs759319824 |
128 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
rs759319824 CA10221054 |
128 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
CA411454395 rs1195572812 |
129 | E>D | No |
ClinGen gnomAD |
|
rs752344582 CA10221056 |
129 | E>V | No |
ClinGen ExAC gnomAD |
|
rs13057290 CA324134781 |
130 | V>L | No |
ClinGen Ensembl |
|
rs1459943537 CA411454426 |
131 | K>E | No |
ClinGen TOPMed |
|
rs751105266 CA10221059 |
133 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
CA411454494 rs1486501594 |
135 | A>S | No |
ClinGen TOPMed gnomAD |
|
rs1486501594 CA411454488 |
135 | A>T | No |
ClinGen TOPMed gnomAD |
|
CA10221062 rs148782175 |
138 | M>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs148782175 CA10221061 |
138 | M>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA10221063 rs769028814 |
139 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
rs779029344 CA10221064 |
140 | K>R | No |
ClinGen ExAC gnomAD |
|
CA10221065 rs748422092 |
141 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
rs772252205 CA10221066 |
142 | Q>R | No |
ClinGen ExAC gnomAD |
|
CA10221089 rs747098687 |
144 | I>F | No |
ClinGen ExAC TOPMed gnomAD |
|
CA10221090 rs770992219 |
144 | I>M | No |
ClinGen ExAC gnomAD |
|
CA10221091 rs146936287 |
145 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA10221092 rs199984681 |
146 | K>N | No |
ClinGen 1000Genomes ExAC |
|
rs762217256 CA411454862 |
148 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
rs762217256 CA10221095 |
148 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
CA411454883 rs1232210107 |
149 | P>R | No |
ClinGen gnomAD |
|
rs763839464 CA10221096 |
149 | P>T | No |
ClinGen ExAC gnomAD |
|
rs1161141093 CA411454894 |
150 | K>R | No |
ClinGen gnomAD |
|
CA411454903 rs1342961020 |
151 | L>I | No |
ClinGen gnomAD |
|
rs774104689 CA10221097 |
152 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
CA324135223 COSM2149465 rs913218146 |
153 | D>G | central_nervous_system [Cosmic] | No |
ClinGen cosmic curated Ensembl |
rs761255447 CA10221098 |
155 | T>I | No |
ClinGen ExAC gnomAD |
|
rs761255447 CA324135233 |
155 | T>N | No |
ClinGen ExAC gnomAD |
|
rs1356961974 CA411454991 |
156 | T>A | No |
ClinGen gnomAD |
|
CA10221099 rs767107217 |
156 | T>I | No |
ClinGen ExAC gnomAD |
|
rs749873760 CA10221100 |
157 | F>L | No |
ClinGen ExAC gnomAD |
|
rs755575938 CA10221101 |
158 | P>H | No |
ClinGen ExAC gnomAD |
|
CA411455052 rs1226007224 |
161 | P>S | No |
ClinGen gnomAD |
|
CA411455064 rs1316463341 |
162 | P>L | No |
ClinGen gnomAD |
|
rs765720787 CA10221102 |
162 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
CA411455067 rs1282812964 |
163 | R>Q | No |
ClinGen gnomAD |
|
rs1028786603 CA324135279 |
163 | R>W | No |
ClinGen TOPMed gnomAD |
|
rs368458302 CA10221103 |
164 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA411455103 rs1393089345 |
167 | V>M | No |
ClinGen TOPMed |
|
rs1256567023 CA411455181 |
172 | E>K | No |
ClinGen gnomAD |
|
CA10221105 rs371106161 |
172 | E>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1178921251 CA411455226 |
174 | K>R | No |
ClinGen gnomAD |
|
CA10221123 rs373435349 |
177 | M>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA411455345 rs1342149501 |
177 | M>T | No |
ClinGen TOPMed |
|
CA10221124 rs189717909 |
180 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA411455496 rs1436968500 |
186 | H>Y | No |
ClinGen gnomAD |
|
CA10221125 COSM1034022 rs375317914 |
187 | P>L | endometrium [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
rs375317914 CA411455560 |
187 | P>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs751865774 CA10221126 |
188 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
CA411455590 rs1601531262 |
189 | D>A | No |
ClinGen Ensembl |
|
rs1002304134 CA324135713 |
191 | R>C | No |
ClinGen TOPMed gnomAD |
|
CA411455628 rs1242122150 |
191 | R>H | No |
ClinGen TOPMed gnomAD |
|
rs1033425098 COSM3842636 CA324135720 |
192 | A>T | breast [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
CA411455667 rs1419284859 |
194 | N>S | No |
ClinGen gnomAD |
|
CA411455731 rs1178633129 |
198 | K>T | No |
ClinGen TOPMed |
|
CA411455741 rs1392904716 |
199 | E>K | No |
ClinGen gnomAD |
|
rs750517578 CA10221129 |
201 | V>L | No |
ClinGen ExAC gnomAD |
|
CA411455777 rs750517578 |
201 | V>M | No |
ClinGen ExAC gnomAD |
|
rs1328219696 CA411455795 |
202 | Q>R | No |
ClinGen gnomAD |
|
rs747983771 CA10221153 |
206 | K>M | No |
ClinGen ExAC gnomAD |
|
rs777506059 CA10221155 |
207 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
rs771727569 CA411456557 |
207 | R>W | No |
ClinGen ExAC gnomAD |
|
rs1337460267 CA411456630 |
209 | E>D | No |
ClinGen gnomAD |
|
CA324138430 rs952446933 |
212 | S>L | No |
ClinGen TOPMed gnomAD |
|
rs952446933 CA411456700 |
212 | S>W | No |
ClinGen TOPMed gnomAD |
|
CA411456751 rs1347915615 |
214 | R>T | No |
ClinGen gnomAD |
|
CA10221158 rs143048877 |
215 | V>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA10221159 rs745321038 |
219 | E>K | No |
ClinGen ExAC gnomAD |
|
CA10221160 rs186081433 |
220 | E>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA411456857 rs1196739534 |
222 | N>K | No |
ClinGen gnomAD |
|
CA411456851 rs1231432129 |
222 | N>S | No |
ClinGen TOPMed gnomAD |
|
CA324138444 rs922789397 |
223 | N>K | No |
ClinGen Ensembl |
|
CA10221161 rs369700552 |
223 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA10221162 rs762258420 |
224 | N>D | No |
ClinGen ExAC gnomAD |
|
rs1380968852 CA411456879 |
225 | V>M | No |
ClinGen TOPMed |
|
rs1601536970 CA411456899 |
226 | K>N | No |
ClinGen Ensembl |
|
CA10221163 rs374593268 |
229 | T>M | No |
ClinGen ESP ExAC |
|
rs761045792 CA10221165 |
231 | M>V | No |
ClinGen ExAC gnomAD |
|
CA411456982 rs1172058648 |
234 | S>I | No |
ClinGen gnomAD |
|
CA10221167 rs753984641 |
236 | S>N | No |
ClinGen ExAC gnomAD |
|
rs1601537055 CA411457019 |
237 | Q>R | No |
ClinGen Ensembl |
|
rs1446758786 CA411457032 |
238 | G>D | No |
ClinGen TOPMed |
|
rs765255006 CA10221169 COSM33565 VAR_036522 |
239 | G>S | a breast cancer sample; somatic mutation large_intestine breast [UniProt, Cosmic] | No |
ClinGen cosmic curated UniProt ExAC TOPMed dbSNP gnomAD |
rs758323331 CA10221171 |
240 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1371147318 CA411457054 |
241 | A>T | No |
ClinGen gnomAD |
|
CA10221172 rs777493212 |
241 | A>V | No |
ClinGen ExAC gnomAD |
|
rs144361028 CA10221173 |
242 | A>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs756911807 CA10221174 |
244 | S>G | No |
ClinGen ExAC gnomAD |
|
CA324138487 rs946739436 |
244 | S>N | No |
ClinGen Ensembl |
|
CA411457084 rs756911807 |
244 | S>R | No |
ClinGen ExAC gnomAD |
|
rs201248808 CA10221175 |
245 | S>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA10221176 rs374211399 |
245 | S>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
COSM444963 CA10221178 rs368649058 |
246 | E>K | breast [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
rs1195771757 CA411457127 |
248 | L>P | No |
ClinGen gnomAD |
|
rs748645220 CA10221179 |
249 | M>I | No |
ClinGen ExAC gnomAD |
|
CA411457131 rs1254150004 |
249 | M>L | No |
ClinGen gnomAD |
|
CA411457144 rs1265847645 |
250 | K>E | No |
ClinGen TOPMed |
|
rs376064851 CA324138589 |
252 | L>Q | No |
ClinGen ESP |
|
CA411457203 rs1369568656 |
254 | Q>E | No |
ClinGen gnomAD |
|
CA10221210 rs767338938 |
255 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
rs750216889 CA10221211 |
255 | R>H | No |
ClinGen ExAC gnomAD |
|
rs1317647896 CA411457217 |
256 | C>Y | No |
ClinGen gnomAD |
|
CA10221213 rs148765384 |
258 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA10221212 rs755782160 |
258 | R>W | No |
ClinGen ExAC gnomAD |
|
CA10221214 rs753292722 |
259 | M>L | No |
ClinGen ExAC gnomAD |
|
CA10221215 rs372349388 |
260 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1211800717 CA411457242 |
260 | R>W | No |
ClinGen gnomAD |
|
rs778449961 CA10221216 |
262 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1419222376 CA411457268 |
264 | F>L | No |
ClinGen gnomAD |
|
CA411457271 rs1160664485 |
265 | R>* | No |
ClinGen gnomAD |
|
rs201542025 CA10221218 |
265 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1313067058 CA411457289 |
268 | S>T | No |
ClinGen gnomAD |
|
CA324138619 rs976537118 |
273 | N>S | No |
ClinGen gnomAD |
|
CA411457326 rs976537118 |
273 | N>T | No |
ClinGen gnomAD |
|
rs558600566 CA10221221 |
276 | A>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs1314717247 CA411457347 |
276 | A>P | No |
ClinGen gnomAD |
|
CA324138623 rs558600566 |
276 | A>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs865918321 CA324139254 |
278 | A>V | No |
ClinGen gnomAD |
|
rs1169024669 CA411458016 |
282 | Q>R | No |
ClinGen gnomAD |
|
CA324139266 rs972183114 |
284 | N>H | No |
ClinGen gnomAD |
|
CA10221244 COSM1327234 rs756451398 |
284 | N>S | ovary [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
rs1368816395 CA411458095 |
286 | N>D | No |
ClinGen gnomAD |
|
CA10221245 rs780259090 |
286 | N>S | No |
ClinGen ExAC gnomAD |
|
rs559987076 CA10221247 |
287 | L>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs1256155216 CA411458150 |
289 | Q>K | No |
ClinGen gnomAD |
|
CA411458206 rs1317231077 |
292 | N>D | No |
ClinGen gnomAD |
|
CA411458216 rs1256479696 |
292 | N>S | No |
ClinGen TOPMed |
|
rs1214191741 CA411458231 |
293 | L>P | No |
ClinGen gnomAD |
|
CA10221249 rs748168677 |
295 | K>E | No |
ClinGen ExAC gnomAD |
|
CA411458294 rs1449342581 |
296 | Q>R | No |
ClinGen gnomAD |
|
CA324139275 rs955200648 |
297 | L>Q | No |
ClinGen gnomAD |
|
CA324139280 rs201952061 |
298 | V>A | No |
ClinGen 1000Genomes gnomAD |
|
rs141488222 CA10221251 |
299 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA10221250 rs772002859 |
299 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
CA411458344 rs1167680992 |
300 | G>S | No |
ClinGen gnomAD |
|
CA411458357 rs1204628061 |
301 | E>K | No |
ClinGen TOPMed |
|
rs776262011 CA10221254 |
305 | G>D | No |
ClinGen ExAC gnomAD |
|
CA10221253 rs766250520 |
305 | G>S | No |
ClinGen ExAC gnomAD |
|
CA411458464 rs1428816510 |
307 | A>T | No |
ClinGen gnomAD |
|
rs942354375 CA324139318 |
310 | G>S | No |
ClinGen gnomAD |
|
rs752257798 CA10221257 |
311 | S>Y | No |
ClinGen ExAC gnomAD |
|
CA411458558 rs1353714232 |
314 | G>R | No |
ClinGen gnomAD |
|
CA10221274 rs537234149 |
315 | S>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA10221275 rs765008609 |
316 | T>I | No |
ClinGen ExAC gnomAD |
|
rs1461976426 CA411458749 |
317 | S>L | No |
ClinGen TOPMed |
|
rs1264521408 CA411458754 |
318 | A>S | No |
ClinGen gnomAD |
|
CA411458773 rs1329421167 |
319 | L>V | No |
ClinGen gnomAD |
|
rs751026115 CA10221279 |
321 | D>G | No |
ClinGen ExAC |
|
rs761301935 CA10221280 |
323 | S>L | No |
ClinGen ExAC gnomAD |
|
rs112813775 CA324139690 |
328 | P>L | No |
ClinGen TOPMed gnomAD |
|
CA411458953 rs112813775 |
328 | P>R | No |
ClinGen TOPMed gnomAD |
|
CA411458999 rs375037202 |
330 | A>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA10221285 rs375037202 |
330 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA411459005 rs1393429324 |
331 | G>S | No |
ClinGen gnomAD |
|
rs747048976 CA10221288 |
331 | G>V | No |
ClinGen ExAC gnomAD |
|
rs770902415 CA10221289 |
332 | T>A | No |
ClinGen ExAC gnomAD |
|
CA10221291 rs745676668 |
333 | T>N | No |
ClinGen ExAC gnomAD |
|
CA10221292 rs769757048 |
334 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
rs775393467 CA10221293 |
336 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
CA10221295 rs768179026 |
340 | R>C | No |
ClinGen ExAC gnomAD |
|
rs145352304 CA10221296 COSM1416154 |
340 | R>H | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
CA411459155 rs1272403775 |
341 | P>L | No |
ClinGen TOPMed |
|
COSM1308147 rs766943371 CA10221298 |
343 | E>K | urinary_tract [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed |
CA324139736 rs760015742 |
347 | P>A | No |
ClinGen ExAC gnomAD |
|
CA10221300 rs760015742 |
347 | P>S | No |
ClinGen ExAC gnomAD |
|
rs765634709 CA10221301 |
348 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1378028568 CA411459290 |
350 | P>S | No |
ClinGen gnomAD |
|
CA411459338 rs1452825985 |
354 | V>I | No |
ClinGen gnomAD |
|
CA324139745 rs140652419 |
355 | S>Y | No |
ClinGen ESP gnomAD |
|
rs751689204 CA10221305 |
357 | L>F | No |
ClinGen ExAC gnomAD |
|
rs1469854936 CA411459404 |
358 | D>H | No |
ClinGen gnomAD |
|
rs781305884 CA10221308 |
359 | D>N | No |
ClinGen ExAC gnomAD |
|
rs1032619048 CA324139753 |
360 | E>K | No |
ClinGen gnomAD |
|
rs1032619048 CA411459438 |
360 | E>Q | No |
ClinGen gnomAD |
|
rs1425433489 COSM70887 CA411459492 |
362 | M>I | ovary [Cosmic] | No |
ClinGen cosmic curated gnomAD |
CA10221310 rs769849256 |
363 | S>F | No |
ClinGen ExAC gnomAD |
|
CA411459533 rs1394638336 |
365 | G>S | No |
ClinGen gnomAD |
|
rs780068368 CA10221330 |
369 | P>S | No |
ClinGen ExAC gnomAD |
|
CA411460707 rs1320381243 |
370 | T>K | No |
ClinGen TOPMed |
|
rs1275725601 CA411460720 |
371 | P>L | No |
ClinGen TOPMed |
|
rs1601556553 CA411460713 |
371 | P>S | No |
ClinGen Ensembl |
|
CA10221332 rs200692910 |
372 | P>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA10221333 rs200692910 |
372 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA10221334 rs200692910 |
372 | P>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA10221335 rs372506535 |
374 | G>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs527795762 CA10221339 |
379 | G>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA10221340 rs527795762 |
379 | G>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA10221338 rs770312873 |
379 | G>S | No |
ClinGen ExAC gnomAD |
|
rs377214761 CA10221341 |
381 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs774772612 CA10221342 |
385 | F>L | No |
ClinGen ExAC gnomAD |
|
rs766608702 CA10221368 |
387 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
rs759453188 CA10221370 |
388 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
CA10221372 rs752444230 |
389 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
CA10221373 rs758152515 |
390 | A>T | No |
ClinGen ExAC gnomAD |
|
rs1276714175 CA411461309 |
391 | T>P | No |
ClinGen gnomAD |
|
rs1369569174 CA411461336 |
392 | E>Q | No |
ClinGen gnomAD |
|
rs1217411210 CA411461363 |
393 | P>S | No |
ClinGen gnomAD |
|
rs751250760 CA10221375 |
394 | P>A | No |
ClinGen ExAC gnomAD |
|
rs1318319644 CA411461395 |
394 | P>L | No |
ClinGen TOPMed gnomAD |
|
rs780623235 CA10221377 |
395 | A>D | No |
ClinGen ExAC gnomAD |
|
rs756895397 CA10221376 |
395 | A>S | No |
ClinGen ExAC gnomAD |
|
CA10221378 rs148880676 |
396 | P>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs769047869 CA10221379 |
396 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
rs748483973 CA10221381 |
398 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1568993044 CA411461480 |
400 | Q>E | No |
ClinGen Ensembl |
|
rs1478990840 CA411461503 |
401 | A>D | No |
ClinGen gnomAD |
|
rs1462177449 CA411461520 |
402 | P>R | No |
ClinGen gnomAD |
|
CA411461516 rs1399773725 |
402 | P>S | No |
ClinGen gnomAD |
|
CA411461528 rs1325532784 |
403 | S>G | No |
ClinGen gnomAD |
|
CA10221385 rs140112498 |
405 | E>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA324141649 rs933908433 |
406 | S>G | No |
ClinGen TOPMed gnomAD |
|
CA411461591 rs933908433 |
406 | S>R | No |
ClinGen TOPMed gnomAD |
|
rs776589823 CA10221386 |
407 | R>Q | No |
ClinGen ExAC gnomAD |
|
rs759598129 CA10221388 |
408 | P>A | No |
ClinGen ExAC gnomAD |
|
CA10221387 rs759598129 |
408 | P>T | No |
ClinGen ExAC gnomAD |
|
rs752726816 CA10221389 |
410 | A>S | No |
ClinGen ExAC gnomAD |
|
CA10221390 rs201565288 |
410 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs200331822 CA10221392 |
411 | Q>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA10221393 rs200648957 |
413 | S>Y | No |
ClinGen ExAC gnomAD |
|
CA324141670 rs769521468 |
414 | L>V | No |
ClinGen TOPMed |
|
rs917121879 CA324141671 |
416 | A>G | No |
ClinGen Ensembl |
|
rs1415612165 CA411461749 |
417 | S>R | No |
ClinGen gnomAD |
|
CA10221396 rs755600091 |
418 | S>G | No |
ClinGen ExAC gnomAD |
|
rs55830659 CA324141674 |
418 | S>I | No |
ClinGen Ensembl |
|
rs150957887 CA10221397 |
419 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs748705152 CA10221398 |
420 | L>R | No |
ClinGen ExAC gnomAD |
|
rs778341426 CA411461811 |
422 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
CA10221400 rs778341426 |
422 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
rs771065392 CA10221402 |
425 | L>F | No |
ClinGen ExAC gnomAD |
|
rs776877315 CA10221403 |
426 | L>M | No |
ClinGen ExAC gnomAD |
|
CA324141720 rs909521837 |
426 | L>P | No |
ClinGen Ensembl |
|
CA411461877 rs1478175876 |
427 | G>R | No |
ClinGen TOPMed |
|
rs376214395 CA10221404 |
428 | K>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA411461902 rs1351443827 |
429 | T>N | No |
ClinGen gnomAD |
|
CA411461898 rs1601559328 |
429 | T>P | No |
ClinGen Ensembl |
|
rs1196159416 CA411461908 |
430 | L>V | No |
ClinGen TOPMed |
|
rs1285563034 CA411462003 |
436 | P>L | No |
ClinGen gnomAD |
|
rs1198004568 CA411461998 |
436 | P>S | No |
ClinGen TOPMed |
|
rs1036723091 CA324141725 |
437 | P>L | No |
ClinGen TOPMed gnomAD |
|
rs1036723091 CA411462012 |
437 | P>Q | No |
ClinGen TOPMed gnomAD |
|
rs762932796 CA10221407 |
438 | E>K | No |
ClinGen ExAC gnomAD |
|
rs1356389128 CA411462039 |
439 | S>P | No |
ClinGen gnomAD |
|
rs1215082330 CA411462067 |
441 | Q>* | No |
ClinGen gnomAD |
|
CA10221408 rs371105985 |
441 | Q>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA10221409 rs774134872 |
442 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
CA10221410 rs761555283 |
443 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1273098456 CA411462097 |
443 | R>W | No |
ClinGen TOPMed |
|
rs1377832515 CA411462106 |
444 | W>R | No |
ClinGen TOPMed |
|
rs1358766831 CA411462702 |
445 | E>K | No |
ClinGen TOPMed |
|
rs768609545 CA10221430 |
450 | T>I | No |
ClinGen ExAC gnomAD |
|
CA10221431 rs768609545 |
450 | T>N | No |
ClinGen ExAC gnomAD |
|
rs1601562212 CA411462796 |
450 | T>P | No |
ClinGen Ensembl |
|
rs374503060 CA10221433 |
452 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1273648347 CA411462825 |
452 | R>W | No |
ClinGen TOPMed gnomAD |
|
rs1260197321 CA411462835 |
453 | L>V | No |
ClinGen gnomAD |
|
CA411462873 rs1275665518 |
454 | T>R | No |
ClinGen gnomAD |
|
rs144625677 CA10221435 |
456 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA10221437 rs138525343 |
456 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA10221436 rs144625677 |
456 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA411462952 rs1200899148 |
459 | Q>K | No |
ClinGen TOPMed gnomAD |
|
CA10221439 rs764724465 |
460 | N>S | No |
ClinGen ExAC gnomAD |
|
rs143093104 CA324142068 |
461 | K>Q | No |
ClinGen ESP |
|
CA10221440 rs201140527 |
463 | S>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA411463028 rs1401962525 |
463 | S>N | No |
ClinGen gnomAD |
|
CA411463073 rs1488781384 |
465 | C>R | No |
ClinGen TOPMed |
|
rs886653852 CA324142073 |
465 | C>Y | No |
ClinGen TOPMed gnomAD |
|
CA411463100 rs1231231169 |
466 | S>I | No |
ClinGen TOPMed |
|
rs781661736 CA10221442 |
467 | S>A | No |
ClinGen ExAC gnomAD |
|
CA411463118 rs1388066376 |
467 | S>F | No |
ClinGen gnomAD |
|
CA10221443 rs746158093 |
468 | P>L | No |
ClinGen ExAC gnomAD |
|
CA10221445 rs780207604 |
469 | S>N | No |
ClinGen ExAC gnomAD |
|
rs749391451 CA10221446 |
470 | S>F | No |
ClinGen ExAC gnomAD |
|
rs199622924 CA10221448 |
472 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1218305859 CA411463258 |
475 | L>R | No |
ClinGen TOPMed |
|
rs1418215687 CA411463271 |
476 | L>P | No |
ClinGen TOPMed gnomAD |
|
rs771891326 CA10221450 |
478 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
rs190695286 CA10221452 |
479 | V>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs918164171 CA324142116 |
480 | S>F | No |
ClinGen TOPMed gnomAD |
|
CA10221456 rs369421250 |
483 | P>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA10221455 rs369421250 |
483 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA10221457 rs764902383 |
485 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
COSM1034024 rs942059565 CA324142143 |
487 | P>L | endometrium [Cosmic] | No |
ClinGen cosmic curated gnomAD |
rs1365443969 CA411463475 |
488 | Q>H | No |
ClinGen gnomAD |
|
rs1160978387 CA411463467 |
488 | Q>R | No |
ClinGen gnomAD |
|
CA411463509 rs1266583591 |
490 | P>T | No |
ClinGen TOPMed |
|
rs754056164 CA10221459 |
491 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1382062528 COSM3150559 CA411463578 |
494 | E>K | upper_aerodigestive_tract [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
CA10221461 rs144761956 |
495 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1323763324 CA411463599 |
495 | L>P | No |
ClinGen gnomAD |
|
rs1217238302 CA411463750 |
503 | P>S | No |
ClinGen TOPMed gnomAD |
|
rs1217238302 CA411463744 |
503 | P>T | No |
ClinGen TOPMed gnomAD |
|
CA411463813 rs1185751323 |
506 | S>F | No |
ClinGen gnomAD |
|
CA411463853 rs1230737174 |
508 | K>R | No |
ClinGen gnomAD |
|
CA10221480 rs761140024 |
511 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1336293022 CA411464166 |
515 | V>L | No |
ClinGen TOPMed gnomAD |
|
rs1336293022 CA411464163 |
515 | V>L | No |
ClinGen TOPMed gnomAD |
|
CA411464159 rs1336293022 |
515 | V>M | No |
ClinGen TOPMed gnomAD |
|
rs1371012600 CA411464221 |
517 | V>A | No |
ClinGen gnomAD |
|
rs1307198078 CA411464213 |
517 | V>M | No |
ClinGen gnomAD |
|
rs777889440 CA10221487 |
518 | Y>S | No |
ClinGen ExAC gnomAD |
|
CA411464292 rs1251898426 |
520 | Q>E | No |
ClinGen TOPMed |
|
rs1601565947 CA411464295 |
520 | Q>R | No |
ClinGen Ensembl |
|
CA10221490 rs375756142 |
522 | G>S | No |
ClinGen ESP ExAC gnomAD |
|
rs745588956 CA10221491 |
524 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
rs143909159 CA10221492 |
524 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs143909159 CA411464381 |
524 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs71317060 CA324142605 |
526 | L>F | No |
ClinGen Ensembl |
|
CA411464555 rs1387896390 |
530 | A>G | No |
ClinGen TOPMed |
|
CA411464574 rs140697419 |
531 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs140697419 CA10221496 |
531 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA324142618 rs946830995 |
531 | R>W | No |
ClinGen TOPMed gnomAD |
|
CA10221498 rs766815610 |
534 | L>P | No |
ClinGen ExAC gnomAD |
|
rs759856474 CA10221500 |
536 | G>R | No |
ClinGen ExAC gnomAD |
|
rs765521088 CA10221501 |
537 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
CA411464680 rs1294008682 |
537 | R>H | No |
ClinGen TOPMed gnomAD |
|
CA411464704 rs1221411442 |
538 | S>F | No |
ClinGen gnomAD |
|
rs150803628 CA324142633 |
539 | D>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs150803628 CA10221503 |
539 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA411464742 rs764151001 |
540 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
CA411464738 rs764151001 |
540 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
CA10221504 rs764151001 |
540 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
CA411464846 rs1601566411 |
544 | V>G | No |
ClinGen Ensembl |
|
rs1601566438 CA411464867 |
545 | V>G | No |
ClinGen Ensembl |
|
CA411464854 rs1248918976 |
545 | V>I | No |
ClinGen gnomAD |
|
rs756020591 CA10221509 |
547 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
CA411465005 rs1264348872 |
551 | A>D | No |
ClinGen gnomAD |
|
CA411464995 rs1301619360 |
551 | A>T | No |
ClinGen TOPMed |
|
CA411465003 rs1264348872 |
551 | A>V | No |
ClinGen gnomAD |
|
rs1568996904 CA411465012 |
552 | P>A | No |
ClinGen Ensembl |
|
rs1479042892 CA411465024 |
553 | Q>* | No |
ClinGen TOPMed gnomAD |
|
CA411465022 rs1479042892 |
553 | Q>E | No |
ClinGen TOPMed gnomAD |
|
CA411465066 rs1329084163 |
554 | P>L | No |
ClinGen TOPMed |
|
rs748959990 CA10221511 |
554 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
rs768342061 CA10221512 |
556 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
CA10221513 rs754026793 |
556 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
CA10221516 rs771461283 |
559 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
CA10221515 rs771461283 |
559 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
rs377276769 CA324142743 |
561 | Q>R | No |
ClinGen ESP gnomAD |
|
CA411465282 rs1340881021 |
562 | S>T | No |
ClinGen gnomAD |
|
CA324142745 rs997698138 |
564 | V>A | No |
ClinGen Ensembl |
|
rs765564370 CA10221518 |
564 | V>I | No |
ClinGen ExAC gnomAD |
|
CA10221519 rs775923665 |
565 | P>A | No |
ClinGen ExAC gnomAD |
|
rs770325825 CA10221536 |
567 | V>I | No |
ClinGen ExAC gnomAD |
|
rs1179368201 CA411465505 |
568 | M>L | No |
ClinGen gnomAD |
|
rs775718087 CA10221537 |
568 | M>T | No |
ClinGen ExAC gnomAD |
|
CA411465590 rs1601567781 |
570 | V>G | No |
ClinGen Ensembl |
|
CA10221540 rs774761293 |
574 | P>A | No |
ClinGen ExAC gnomAD |
|
CA411465690 rs1568997375 |
574 | P>L | No |
ClinGen Ensembl |
|
CA10221541 rs762094245 |
576 | S>L | No |
ClinGen ExAC gnomAD |
|
rs149933005 CA10221543 |
578 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1379677852 CA411465913 |
581 | P>S | No |
ClinGen gnomAD |
|
CA411465937 rs1279543857 |
582 | A>V | No |
ClinGen gnomAD |
|
CA324142934 rs28378510 |
583 | F>L | No |
ClinGen Ensembl |
|
CA411466011 rs1346122946 |
585 | P>A | No |
ClinGen gnomAD |
|
rs753595978 CA10221546 |
586 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
CA324142969 rs1009030319 |
587 | V>A | No |
ClinGen TOPMed gnomAD |
|
rs369595461 CA10221548 |
587 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA411466133 rs1240101021 |
588 | H>P | No |
ClinGen gnomAD |
|
rs1240101021 CA411466136 |
588 | H>R | No |
ClinGen gnomAD |
|
CA10221549 rs372987949 |
589 | P>L | No |
ClinGen ESP ExAC gnomAD |
|
CA411466194 rs1179550231 |
590 | S>A | No |
ClinGen gnomAD |
|
CA10221550 rs146676662 |
590 | S>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1478210520 CA411466213 |
591 | A>V | No |
ClinGen gnomAD |
|
rs777327586 CA10221551 |
592 | I>V | No |
ClinGen ExAC gnomAD |
|
rs752480500 CA10221568 |
607 | R>C | No |
ClinGen ExAC gnomAD |
|
CA10221569 rs200530152 |
607 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA324143067 rs992630857 |
608 | L>F | No |
ClinGen TOPMed |
|
CA10221571 rs751065837 |
609 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
CA10221572 rs756834619 |
609 | R>H | No |
ClinGen ExAC gnomAD |
|
CA10221573 rs146516799 |
616 | M>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs1224610032 CA411466802 |
618 | D>Y | No |
ClinGen gnomAD |
|
CA10221574 rs749866448 |
622 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
rs113612442 CA411466862 |
622 | N>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs779425656 CA10221576 |
623 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
rs748465828 CA10221577 |
624 | M>I | No |
ClinGen ExAC gnomAD |
|
rs748465828 CA10221578 |
624 | M>I | No |
ClinGen ExAC gnomAD |
|
CA411466873 rs1300088803 |
624 | M>L | No |
ClinGen TOPMed |
|
CA411466881 rs1426379576 |
625 | G>E | No |
ClinGen gnomAD |
|
CA10221580 rs528995138 |
626 | D>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs773526813 CA10221579 |
626 | D>H | No |
ClinGen ExAC gnomAD |
|
CA324143100 rs920248151 |
629 | Q>H | No |
ClinGen TOPMed gnomAD |
|
rs1162192810 CA411466918 |
630 | F>L | No |
ClinGen gnomAD |
|
rs1601568989 CA411466916 |
630 | F>S | No |
ClinGen Ensembl |
|
rs1365546959 CA411466925 |
631 | P>L | No |
ClinGen gnomAD |
|
CA411466928 rs781127608 |
632 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
CA10221582 rs781127608 |
632 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
rs540636311 CA10221581 |
632 | P>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA10221583 rs559322947 |
634 | E>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs765088639 CA10221584 |
635 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
rs765088639 CA411466943 |
635 | T>P | No |
ClinGen ExAC TOPMed gnomAD |
|
rs762701050 CA10221586 |
636 | W>G | No |
ClinGen ExAC gnomAD |
|
rs762701050 CA411466949 |
636 | W>R | No |
ClinGen ExAC gnomAD |
|
CA411466959 rs200183314 |
637 | G>D | No |
ClinGen ExAC gnomAD |
|
CA10221587 rs200183314 |
637 | G>V | No |
ClinGen ExAC gnomAD |
|
rs1173622694 CA411466964 |
638 | S>N | No |
ClinGen TOPMed |
|
CA10221589 rs756849609 |
639 | L>P | No |
ClinGen ExAC gnomAD |
No associated diseases with Q9UJY5
5 regional properties for Q9UJY5
Type | Name | Position | InterPro Accession |
---|---|---|---|
domain | VHS domain | 8 - 147 | IPR002014 |
domain | GAT domain | 171 - 300 | IPR004152 |
domain | Clathrin adaptor, alpha/beta/gamma-adaptin, appendage, Ig-like subdomain | 507 - 631 | IPR008152 |
domain | Gamma-adaptin ear (GAE) domain | 510 - 631 | IPR008153 |
domain | N-terminal extension of GAT domain | 169 - 207 | IPR041198 |
Functions
Description | ||
---|---|---|
EC Number | ||
Subcellular Localization |
|
|
PANTHER Family | PTHR45905 | GOLGI-LOCALIZED, GAMMA-ADAPTIN EAR CONTAINING, ARF BINDING PROTEIN |
PANTHER Subfamily | PTHR45905:SF4 | ADP-RIBOSYLATION FACTOR-BINDING PROTEIN GGA1 |
PANTHER Protein Class | ||
PANTHER Pathway Category | No pathway information available |
9 GO annotations of cellular component
Name | Definition |
---|---|
cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
early endosome | A membrane-bounded organelle that receives incoming material from primary endocytic vesicles that have been generated by clathrin-dependent and clathrin-independent endocytosis; vesicles fuse with the early endosome to deliver cargo for sorting into recycling or degradation pathways. |
early endosome membrane | The lipid bilayer surrounding an early endosome. |
endosome membrane | The lipid bilayer surrounding an endosome. |
Golgi apparatus | A membrane-bound cytoplasmic organelle of the endomembrane system that further processes the core oligosaccharides (e.g. N-glycans) added to proteins in the endoplasmic reticulum and packages them into membrane-bound vesicles. The Golgi apparatus operates at the intersection of the secretory, lysosomal, and endocytic pathways. |
intracellular membrane-bounded organelle | Organized structure of distinctive morphology and function, bounded by a single or double lipid bilayer membrane and occurring within the cell. Includes the nucleus, mitochondria, plastids, vacuoles, and vesicles. Excludes the plasma membrane. |
membrane | A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it. |
nucleoplasm | That part of the nuclear content other than the chromosomes or the nucleolus. |
protein-containing complex | A stable assembly of two or more macromolecules, i.e. proteins, nucleic acids, carbohydrates or lipids, in which at least one component is a protein and the constituent parts function together. |
3 GO annotations of molecular function
Name | Definition |
---|---|
phosphatidylinositol binding | Binding to an inositol-containing glycerophospholipid, i.e. phosphatidylinositol (PtdIns) and its phosphorylated derivatives. |
small GTPase binding | Binding to a small monomeric GTPase. |
ubiquitin binding | Binding to ubiquitin, a protein that when covalently bound to other cellular proteins marks them for proteolytic degradation. |
8 GO annotations of biological process
Name | Definition |
---|---|
Golgi to plasma membrane protein transport | The directed movement of proteins from the Golgi to the plasma membrane in transport vesicles that move from the trans-Golgi network to the plasma membrane. |
intracellular protein transport | The directed movement of proteins in a cell, including the movement of proteins between specific compartments or structures within a cell, such as organelles of a eukaryotic cell. |
positive regulation of protein catabolic process | Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways resulting in the breakdown of a protein by the destruction of the native, active configuration, with or without the hydrolysis of peptide bonds. |
protein localization | Any process in which a protein is transported to, or maintained in, a specific location. |
protein localization to cell surface | A process in which a protein is transported to, or maintained in, a location within the external part of the cell wall and/or plasma membrane. |
protein localization to ciliary membrane | A process in which a protein is transported to, or maintained in, a location within a ciliary membrane. |
retrograde transport, endosome to Golgi | The directed movement of membrane-bounded vesicles from endosomes back to the trans-Golgi network where they are recycled for further rounds of transport. |
toxin transport | The directed movement of a toxin into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. |
5 homologous proteins in AiPD
UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
---|---|---|---|---|
Q9NZ52 | GGA3 | ADP-ribosylation factor-binding protein GGA3 | Homo sapiens (Human) | EV |
Q9UJY4 | GGA2 | ADP-ribosylation factor-binding protein GGA2 | Homo sapiens (Human) | SS |
Q6P5E6 | Gga2 | ADP-ribosylation factor-binding protein GGA2 | Mus musculus (Mouse) | SS |
Q8R0H9 | Gga1 | ADP-ribosylation factor-binding protein GGA1 | Mus musculus (Mouse) | SS |
Q8BMI3 | Gga3 | ADP-ribosylation factor-binding protein GGA3 | Mus musculus (Mouse) | SS |
10 | 20 | 30 | 40 | 50 | 60 |
MEPAMEPETL | EARINRATNP | LNKELDWASI | NGFCEQLNED | FEGPPLATRL | LAHKIQSPQE |
70 | 80 | 90 | 100 | 110 | 120 |
WEAIQALTVL | ETCMKSCGKR | FHDEVGKFRF | LNELIKVVSP | KYLGSRTSEK | VKNKILELLY |
130 | 140 | 150 | 160 | 170 | 180 |
SWTVGLPEEV | KIAEAYQMLK | KQGIVKSDPK | LPDDTTFPLP | PPRPKNVIFE | DEEKSKMLAR |
190 | 200 | 210 | 220 | 230 | 240 |
LLKSSHPEDL | RAANKLIKEM | VQEDQKRMEK | ISKRVNAIEE | VNNNVKLLTE | MVMSHSQGGA |
250 | 260 | 270 | 280 | 290 | 300 |
AAGSSEDLMK | ELYQRCERMR | PTLFRLASDT | EDNDEALAEI | LQANDNLTQV | INLYKQLVRG |
310 | 320 | 330 | 340 | 350 | 360 |
EEVNGDATAG | SIPGSTSALL | DLSGLDLPPA | GTTYPAMPTR | PGEQASPEQP | SASVSLLDDE |
370 | 380 | 390 | 400 | 410 | 420 |
LMSLGLSDPT | PPSGPSLDGT | GWNSFQSSDA | TEPPAPALAQ | APSMESRPPA | QTSLPASSGL |
430 | 440 | 450 | 460 | 470 | 480 |
DDLDLLGKTL | LQQSLPPESQ | QVRWEKQQPT | PRLTLRDLQN | KSSSCSSPSS | SATSLLHTVS |
490 | 500 | 510 | 520 | 530 | 540 |
PEPPRPPQQP | VPTELSLASI | TVPLESIKPS | NILPVTVYDQ | HGFRILFHFA | RDPLPGRSDV |
550 | 560 | 570 | 580 | 590 | 600 |
LVVVVSMLST | APQPIRNIVF | QSAVPKVMKV | KLQPPSGTEL | PAFNPIVHPS | AITQVLLLAN |
610 | 620 | 630 | |||
PQKEKVRLRY | KLTFTMGDQT | YNEMGDVDQF | PPPETWGSL |