Q13596
Gene name |
SNX1 |
Protein name |
Sorting nexin-1 |
Names |
|
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:6642 |
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
411 variants for Q13596
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs1466115965 CA392814310 |
2 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA392814320 rs1302801480 |
2 | A>V | No |
ClinGen gnomAD |
|
|
rs779691030 CA7607556 |
3 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1315517456 CA392814340 |
4 | G>S | No |
ClinGen gnomAD |
|
|
rs754960914 CA7607559 |
5 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs367760878 CA7607558 |
5 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1486113842 CA392814372 |
6 | G>D | No |
ClinGen gnomAD |
|
|
rs1236864650 CA392814366 |
6 | G>S | No |
ClinGen gnomAD |
|
|
CA392814379 rs1390021579 |
7 | G>C | No |
ClinGen TOPMed |
|
|
rs1046442862 CA272161450 |
8 | C>R | No |
ClinGen TOPMed |
|
|
CA272161452 rs935644420 |
8 | C>Y | No |
ClinGen TOPMed |
|
|
rs1477521315 CA392814414 |
9 | S>G | No |
ClinGen gnomAD |
|
|
rs769590422 CA7607562 |
9 | S>I | No |
ClinGen ExAC gnomAD |
|
|
CA392814420 rs769590422 |
9 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA7607563 rs777522910 |
9 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7607564 rs748857822 |
10 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA392814440 rs1413154900 |
10 | A>P | No |
ClinGen gnomAD |
|
|
CA392814436 rs1413154900 |
10 | A>T | No |
ClinGen gnomAD |
|
|
rs748857822 CA272161475 |
10 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775717942 CA7607566 |
11 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7607569 rs140656810 |
12 | E>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 12 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7607568 rs140656810 |
12 | E>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs761251263 CA7607567 |
12 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA272161485 rs761251263 |
12 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs140656810 CA7607570 |
12 | E>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs370223175 CA392814511 |
14 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs144432300 CA7607573 |
15 | P>L | No |
ClinGen ESP ExAC gnomAD |
|
|
rs777617638 CA7607572 |
15 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA392814562 rs1370505535 |
16 | P>R | No |
ClinGen TOPMed |
|
|
CA7607574 rs201234536 |
16 | P>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA392814582 rs1217920055 |
17 | P>L | No |
ClinGen gnomAD |
|
|
rs1217920055 CA392814579 |
17 | P>R | No |
ClinGen gnomAD |
|
|
CA272161511 rs151109030 |
17 | P>S | No |
ClinGen ESP gnomAD |
|
|
rs754975675 COSM3981603 CA392814626 |
19 | P>L | ovary [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs754975675 CA7607576 |
19 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA392814618 rs1200188674 |
19 | P>S | No |
ClinGen gnomAD |
|
|
rs1200188674 CA392814614 |
19 | P>T | No |
ClinGen gnomAD |
|
|
CA392814632 rs1477131412 |
20 | G>R | No |
ClinGen gnomAD |
|
|
CA392814655 rs1402771287 |
22 | E>K | No |
ClinGen gnomAD |
|
|
rs1360390894 CA392814694 |
23 | P>Q | No |
ClinGen gnomAD |
|
|
CA7607579 rs201468224 |
24 | E>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 25 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA392814764 rs1332473886 |
26 | E>* | No |
ClinGen gnomAD |
|
| TCGA novel | 26 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1332473886 CA392814759 |
26 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA7607580 rs777138062 |
27 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs1433917082 CA392814784 |
27 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs200363020 CA7607581 |
28 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA272161566 rs575758638 |
28 | A>V | No |
ClinGen Ensembl |
|
| TCGA novel | 29 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA392814831 rs1352814254 |
29 | A>V | No |
ClinGen gnomAD |
|
|
CA7607583 rs780484362 |
30 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA272161589 rs780484362 |
30 | G>W | No |
ClinGen ExAC gnomAD |
|
|
CA7607584 rs747288155 |
31 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA392814853 rs1449934975 |
31 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA392814895 rs1439395754 |
32 | S>L | No |
ClinGen TOPMed |
|
|
CA272161598 rs769183939 |
34 | P>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7607585 rs769183939 |
34 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1177115717 CA392814973 |
36 | A>G | No |
ClinGen gnomAD |
|
|
rs773160874 CA7607589 |
37 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA7607588 rs769918313 |
37 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA392814995 rs1294536431 |
38 | D>N | No |
ClinGen TOPMed |
|
| TCGA novel | 38 | D>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs967106242 CA272161607 |
43 | G>R | No |
ClinGen Ensembl |
|
|
CA392815109 rs759362417 |
44 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774215652 CA7607592 |
44 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 44 | E>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA392815151 rs1323133961 |
47 | F>S | No |
ClinGen TOPMed |
|
|
rs372800532 CA7607594 |
48 | T>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA392815188 rs1306736193 |
50 | A>V | No |
ClinGen gnomAD |
|
|
rs1165698776 CA392815198 |
51 | A>G | No |
ClinGen TOPMed |
|
|
CA392815207 rs1456816283 |
52 | V>E | No |
ClinGen TOPMed |
|
| TCGA novel | 54 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA392818416 rs1488757916 |
55 | K>E | No |
ClinGen TOPMed |
|
|
rs759807032 CA7607610 |
56 | H>P | No |
ClinGen ExAC gnomAD |
|
|
rs1320072430 CA392818438 |
56 | H>Y | No |
ClinGen gnomAD |
|
|
rs141106971 CA272175267 CA392818495 |
57 | Q>H | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA7607611 rs767490689 |
57 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA392818506 rs1202507870 |
59 | P>A | No |
ClinGen gnomAD |
|
|
rs775360838 CA7607612 |
60 | K>T | No |
ClinGen ExAC gnomAD |
|
|
rs753420175 CA7607615 |
61 | I>K | No |
ClinGen ExAC gnomAD |
|
|
rs763892941 CA7607614 |
61 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA392818553 rs1314087998 |
62 | T>A | No |
ClinGen TOPMed |
|
|
CA272175288 rs374702600 |
63 | T>A | No |
ClinGen ESP TOPMed |
|
|
rs1478499392 CA392818580 |
64 | S>A | No |
ClinGen gnomAD |
|
|
rs1219795209 CA392818596 |
65 | L>F | No |
ClinGen TOPMed |
|
|
rs761270016 CA7607617 COSM193597 |
67 | P>A | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs750135323 CA7607618 |
67 | P>H | No |
ClinGen ExAC gnomAD |
|
|
rs761270016 CA392818621 |
67 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761270016 CA7607616 |
67 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA392818629 rs1399995922 |
68 | I>F | No |
ClinGen gnomAD |
|
|
CA7607621 rs753001540 |
69 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781539376 CA7607620 |
69 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA272175309 rs150183282 |
72 | S>C | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs765271417 CA7607622 |
73 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA272175315 rs907807186 |
75 | N>D | No |
ClinGen TOPMed |
|
|
rs138725192 CA7607623 |
76 | G>A | No |
ClinGen ESP ExAC TOPMed |
|
|
CA7607625 rs770962999 |
77 | I>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1235910793 CA392818769 |
77 | I>N | No |
ClinGen gnomAD |
|
|
rs1254689405 CA392818778 |
78 | H>N | No |
ClinGen gnomAD |
|
|
CA392818784 rs1344748296 |
78 | H>P | No |
ClinGen TOPMed gnomAD |
|
|
CA392818786 rs1344748296 |
78 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
CA392818813 rs1422058548 |
80 | E>K | No |
ClinGen TOPMed |
|
|
rs377404172 CA272175329 |
81 | Q>E | No |
ClinGen ESP |
|
|
CA392818911 rs1173278342 |
85 | P>S | No |
ClinGen TOPMed |
|
|
CA392818924 rs1478386739 |
86 | Q>* | No |
ClinGen TOPMed |
|
| TCGA novel | 86 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA392818920 rs1478386739 |
86 | Q>K | No |
ClinGen TOPMed |
|
|
CA7607655 rs747232429 |
91 | D>E | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 92 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7607656 rs768395868 |
94 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs761660161 CA7607658 |
95 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776483256 CA7607657 |
95 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1482440668 CA392820074 |
99 | D>N | No |
ClinGen TOPMed |
|
|
rs1466389480 CA392820088 |
100 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
CA392820091 rs1567323913 |
101 | T>A | No |
ClinGen Ensembl |
|
|
rs186954122 CA7607659 |
103 | N>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1206654268 CA392820116 |
104 | N>I | No |
ClinGen gnomAD |
|
|
rs1303952606 CA392820122 |
105 | Q>P | No |
ClinGen gnomAD |
|
|
rs1381918495 CA392820139 |
107 | K>R | No |
ClinGen gnomAD |
|
|
CA392820144 rs762409802 |
108 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7607661 rs762409802 |
108 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA392820164 rs1294099573 |
111 | K>R | No |
ClinGen TOPMed |
|
|
rs1049501 CA392820190 |
115 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
CA272177231 rs1049501 VAR_052477 |
115 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen UniProt NCI-TCGA TOPMed dbSNP gnomAD |
|
CA272177233 rs1021544217 |
117 | P>S | No |
ClinGen Ensembl |
|
|
CA7607664 rs759211566 |
118 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA392820215 rs1197738473 |
120 | E>K | No |
ClinGen gnomAD |
|
|
rs764430840 CA7607665 |
120 | E>V | No |
ClinGen ExAC gnomAD |
|
|
CA392820235 rs1306118042 |
123 | N>D | No |
ClinGen TOPMed |
|
|
rs147060442 CA272177236 |
124 | S>C | No |
ClinGen ESP |
|
|
rs138423671 CA7607666 |
125 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP NCI-TCGA TOPMed gnomAD |
|
rs1199521055 CA392820275 |
129 | P>A | No |
ClinGen gnomAD |
|
|
rs200079069 CA392820277 |
129 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200079069 CA7607669 |
129 | P>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA7607670 rs765803225 |
130 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA392820288 rs1361249309 |
131 | Y>C | No |
ClinGen gnomAD |
|
|
CA392820285 rs1177151327 |
131 | Y>H | No |
ClinGen gnomAD |
|
|
rs780268818 CA7607673 |
133 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA7607701 rs770784911 |
140 | E>G | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA7607703 rs745345629 |
141 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs1334953756 CA392820374 |
141 | D>V | No |
ClinGen TOPMed |
|
|
CA7607704 rs368778345 |
143 | F>C | No |
ClinGen ESP ExAC gnomAD |
|
|
rs904337775 CA272177375 |
146 | T>A | No |
ClinGen Ensembl |
|
|
CA392820480 rs1236227669 |
146 | T>I | No |
ClinGen TOPMed |
|
|
rs770349136 CA7607708 |
148 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770349136 CA7607707 |
148 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs968498504 CA272177380 |
149 | I>L | No |
ClinGen TOPMed |
|
|
rs763569564 CA7607709 |
152 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7607710 rs766859700 |
153 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA7607711 rs751620305 |
155 | I>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1232939902 CA392821612 |
157 | D>N | No |
ClinGen gnomAD |
|
|
CA392821616 rs1232939902 |
157 | D>Y | No |
ClinGen gnomAD |
|
|
rs1035097807 CA272178508 |
159 | M>I | No |
ClinGen Ensembl |
|
|
CA7607730 rs774971028 |
162 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
rs574871557 CA7607731 |
163 | V>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1443434687 CA392821720 |
170 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1443434687 CA392821719 |
170 | Q>E | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 170 | Q>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1399928802 CA392822048 |
172 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
rs142792307 CA7607755 |
172 | S>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7607757 rs750128841 |
173 | L>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 176 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 177 | R>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7607758 rs566105118 |
180 | Q>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs766377028 CA7607759 CA7607760 |
181 | F>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 181 | F>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1333150637 CA392822249 |
183 | V>I | No |
ClinGen TOPMed |
|
|
rs1432464483 CA392822266 |
184 | K>R | No |
ClinGen TOPMed |
|
|
rs1347722595 CA392822292 |
187 | F>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs754583956 CA7607761 |
188 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA392822321 rs149753651 |
191 | L>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs747897527 CA7607763 |
191 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA7607762 rs149753651 |
191 | L>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs908015912 CA272179114 |
192 | G>D | No |
ClinGen TOPMed |
|
|
rs755651604 CA7607764 |
194 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 197 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7607765 rs779345580 |
199 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1237253649 CA392822380 |
200 | K>T | No |
ClinGen TOPMed |
|
|
CA392822402 rs1362579634 |
203 | Q>P | No |
ClinGen TOPMed gnomAD |
|
|
rs200154930 CA7607768 |
204 | N>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1204465320 CA392822423 |
206 | F>Y | No |
ClinGen TOPMed |
|
|
rs1288543769 CA392822445 |
209 | P>L | No |
ClinGen gnomAD |
|
|
CA392822452 rs1306881491 |
210 | P>L | No |
ClinGen TOPMed |
|
|
rs1388900478 CA392822463 |
212 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1312066405 CA392822484 |
215 | S>N | No |
ClinGen gnomAD |
|
|
rs765330212 CA7607773 |
216 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs967373708 CA272179130 |
217 | I>T | No |
ClinGen Ensembl |
|
|
rs774219147 CA7607795 |
219 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA7607794 rs770916921 |
219 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs759556508 CA7607796 |
224 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs977537377 CA272179383 |
225 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs977537377 CA392822559 |
225 | G>W | No |
ClinGen TOPMed gnomAD |
|
|
rs1461982396 CA392822566 |
226 | K>M | No |
ClinGen TOPMed gnomAD |
|
|
CA7607797 rs767509497 |
227 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA7607798 rs1555492288 |
228 | D>V | No |
ClinGen Ensembl |
|
|
CA7607801 rs535080872 |
229 | S>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs374560896 CA7607800 |
229 | S>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs535080872 CA392822587 |
229 | S>Y | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA392822592 rs1291064201 |
230 | S>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA392822598 rs1354368914 |
231 | S>Y | No |
ClinGen gnomAD |
|
|
rs1312836943 CA392822604 |
232 | A>E | No |
ClinGen TOPMed |
|
|
rs985002276 CA272179390 |
236 | E>G | No |
ClinGen TOPMed |
|
|
rs763649714 CA7607802 |
236 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs985002276 CA392822632 |
236 | E>V | No |
ClinGen TOPMed |
|
|
CA7607803 rs753505220 |
237 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs756840245 CA7607804 |
238 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1305522790 CA392822643 |
238 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 239 | R>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1370512858 CA392822655 |
240 | A>T | No |
ClinGen TOPMed |
|
|
CA7607806 rs751872912 |
240 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA392822659 rs781592699 |
241 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7607808 rs781592699 |
241 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765320488 CA392822669 |
242 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs867201745 CA272179400 |
243 | E>G | No |
ClinGen Ensembl |
|
|
CA392822704 rs761479506 |
246 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7607822 rs761479506 |
246 | L>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7607824 rs750049013 |
247 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA7607823 rs764832367 |
247 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1419724753 CA392822725 |
249 | I>T | No |
ClinGen gnomAD |
|
|
rs755383058 CA7607825 |
250 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA392822738 rs1245670187 |
251 | N>S | No |
ClinGen TOPMed |
|
|
rs909296208 CA272179632 |
252 | H>R | No |
ClinGen Ensembl |
|
|
rs1319918419 CA392822961 |
255 | M>V | No |
ClinGen gnomAD |
|
|
rs368141275 CA7607826 |
259 | P>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs567291724 CA7607828 |
260 | D>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs777728260 CA7607829 |
261 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7607831 rs757582732 |
263 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs749331073 CA392823073 |
263 | E>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 263 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7607830 rs749331073 |
263 | E>V | No |
ClinGen ExAC gnomAD |
|
|
rs139810506 CA7607849 |
271 | P>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
COSM1374020 rs111801077 CA7607850 |
272 | R>C | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs779132736 CA7607851 |
272 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758590042 CA392823412 |
274 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7607853 rs758590042 |
274 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1469160972 CA392823458 |
278 | T>A | No |
ClinGen gnomAD |
|
|
rs376805248 CA7607855 |
278 | T>I | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1412121843 CA392823503 |
281 | G>A | No |
ClinGen TOPMed |
|
|
rs748062141 CA392823521 |
283 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748062141 CA7607858 |
283 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1276193567 CA392823537 |
284 | L>P | No |
ClinGen Ensembl |
|
|
rs368998210 CA7607859 |
285 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs368998210 CA7607860 |
285 | L>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1254948603 CA392823551 |
286 | K>* | No |
ClinGen TOPMed gnomAD |
|
|
rs775748393 CA7607864 |
294 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA7607866 rs764341196 |
295 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA272180161 rs1043746738 |
298 | M>I | No |
ClinGen Ensembl |
|
| TCGA novel | 299 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1388017759 CA392823748 |
301 | K>R | No |
ClinGen TOPMed |
|
|
CA392823770 rs1232882418 |
304 | E>Q | No |
ClinGen gnomAD |
|
|
CA7607869 rs765420997 |
305 | S>L | No |
ClinGen ExAC gnomAD |
|
|
rs201402325 CA7607868 |
305 | S>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7607870 rs750481322 |
307 | I>F | No |
ClinGen ExAC gnomAD |
|
|
CA392823908 rs1318159029 |
310 | E>G | No |
ClinGen gnomAD |
|
|
CA7607896 rs201043143 |
313 | L>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA392823961 rs1301816547 |
314 | Q>* | No |
ClinGen gnomAD |
|
|
rs1232845300 CA392824020 |
318 | C>R | No |
ClinGen gnomAD |
|
|
CA392824027 rs1260962035 |
318 | C>S | No |
ClinGen gnomAD |
|
|
rs1435505027 CA392824059 |
320 | E>G | No |
ClinGen gnomAD |
|
|
CA7607900 COSM1227032 rs778221788 |
322 | R>C | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA392824088 rs1364656212 |
322 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs771802227 CA7607902 |
324 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA7607901 rs146206725 |
324 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs777167206 CA392824146 |
326 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA7607905 rs770264981 |
327 | H>P | No |
ClinGen ExAC gnomAD |
|
|
CA272180238 rs372898013 |
329 | V>L | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA392824219 rs1567330682 |
330 | V>L | No |
ClinGen Ensembl |
|
|
CA7607907 rs763368039 |
331 | E>A | No |
ClinGen ExAC gnomAD |
|
|
CA7607908 rs766481861 |
332 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA392824319 rs1285186868 |
335 | N>S | No |
ClinGen TOPMed |
|
|
CA392824359 rs1370836089 |
337 | R>K | No |
ClinGen gnomAD |
|
|
CA392824604 rs1355633113 |
341 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs775668590 CA7607927 |
342 | L>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771290090 CA7607928 |
344 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA392824703 rs1252962466 |
349 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA392824702 rs1160811213 |
349 | K>R | No |
ClinGen TOPMed |
|
| TCGA novel | 353 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA392824789 rs1596004505 |
356 | S>T | No |
ClinGen Ensembl |
|
|
CA392824807 rs1258301861 |
359 | D>N | No |
ClinGen gnomAD |
|
|
CA7607930 rs759652092 |
360 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs767562073 CA7607931 |
361 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA272180595 rs767680862 |
362 | A>T | No |
ClinGen Ensembl |
|
|
rs377571348 CA7607932 |
365 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1417654266 CA392824846 |
365 | R>W | No |
ClinGen gnomAD |
|
|
rs1173198534 CA392824865 |
368 | S>C | No |
ClinGen gnomAD |
|
|
CA392824884 rs949502394 |
371 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
CA392824882 rs1261712905 |
371 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA272180599 rs949502394 |
371 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA7607935 rs145358886 |
372 | E>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7607934 rs763965302 |
372 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs145312138 CA392824920 |
376 | K>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs750366999 CA7607938 |
377 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs1310645644 CA392824925 |
377 | I>T | No |
ClinGen gnomAD |
|
|
rs142457516 CA7607939 |
381 | H>Y | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs779708500 CA7607940 |
382 | Q>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7607941 rs746667073 |
384 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs778220146 CA7607943 |
385 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1275265731 CA392824983 |
386 | N>D | No |
ClinGen TOPMed |
|
|
rs749570361 CA7607944 |
386 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1209019485 CA392824992 |
387 | N>H | No |
ClinGen gnomAD |
|
|
CA7607945 rs771292620 |
387 | N>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA392825001 rs1188593213 |
388 | D>G | No |
ClinGen gnomAD |
|
|
CA392825013 TCGA novel rs1596004702 |
390 | F>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA Ensembl |
|
rs1428511888 CA392825023 |
391 | L>F | No |
ClinGen gnomAD |
|
|
rs1322131976 CA392825025 |
391 | L>P | No |
ClinGen TOPMed |
|
|
CA7607948 rs772205158 |
392 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs775479947 CA7607949 |
392 | L>P | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 395 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs760911076 CA7607951 |
400 | I>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1404648659 CA392825299 |
400 | I>V | No |
ClinGen TOPMed |
|
|
rs768722767 CA7607952 |
401 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA392825308 rs1426456011 |
401 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1456278452 CA392825311 |
402 | L>F | No |
ClinGen gnomAD |
|
|
rs1456278452 CA392825310 |
402 | L>I | No |
ClinGen gnomAD |
|
|
rs1434351450 CA392825317 |
403 | L>Q | No |
ClinGen gnomAD |
|
|
CA7607953 rs776881596 |
406 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA7607954 rs761562391 |
407 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs370174132 CA7607955 |
407 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 407 | R>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 407 | R>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1567332905 CA392807517 |
408 | A>T | No |
ClinGen Ensembl |
|
|
rs987793234 CA271396024 |
411 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA392807538 rs987793234 |
411 | D>Y | No |
ClinGen gnomAD |
|
|
CA392807548 rs1469342280 |
412 | Q>R | No |
ClinGen gnomAD |
|
|
CA392807554 rs1187830736 |
413 | R>C | No |
ClinGen TOPMed |
|
|
CA7607974 rs141526583 |
413 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA gnomAD |
|
rs762863820 CA271396025 |
417 | W>C | No |
ClinGen Ensembl |
|
|
CA392807630 rs1472148389 |
417 | W>G | No |
ClinGen gnomAD |
|
|
rs1472148389 CA392807628 |
417 | W>R | No |
ClinGen gnomAD |
|
|
CA7607976 rs769483271 |
419 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769483271 CA392807660 |
419 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773086930 CA7607977 |
419 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1596007453 CA392807665 |
420 | W>G | No |
ClinGen Ensembl |
|
|
rs766376885 CA7607979 |
421 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA7607978 rs763003400 |
421 | Q>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA392807694 rs1596007481 |
422 | D>G | No |
ClinGen Ensembl |
|
|
CA7607980 rs751507693 |
422 | D>Y | No |
ClinGen ExAC |
|
|
rs759013539 CA7607981 |
426 | T>I | No |
ClinGen ExAC |
|
|
CA392807796 rs1271147187 |
429 | K>R | No |
ClinGen TOPMed |
|
|
rs1197690499 CA392807817 |
431 | R>G | No |
ClinGen TOPMed |
|
| TCGA novel | 431 | R>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs561096025 CA7607982 |
431 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA392807818 rs1197690499 |
431 | R>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA392807898 rs1350167240 |
434 | E>D | No |
ClinGen gnomAD |
|
|
rs754631936 CA7607984 |
434 | E>K | Variant assessed as Somatic; 4.627e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA7607985 rs779262096 |
435 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA7607986 rs750747617 |
436 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7607987 rs758734208 |
440 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7607989 rs200417063 |
441 | N>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA7607988 rs540354481 |
441 | N>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA7607990 rs768688399 |
442 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA392808003 rs1472097787 |
444 | D>N | No |
ClinGen gnomAD |
|
|
CA7607991 rs781270180 |
451 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs781522804 CA7607993 |
452 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs1017306411 CA271396028 |
452 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs781522804 CA271396029 |
452 | E>V | No |
ClinGen ExAC gnomAD |
|
|
rs1411579502 CA392808125 |
453 | I>L | No |
ClinGen TOPMed gnomAD |
|
|
CA7607995 rs749131116 |
454 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA7607996 rs770823253 |
454 | L>R | No |
ClinGen ExAC gnomAD |
|
|
rs199766690 CA7607997 |
455 | E>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA7608023 rs549703675 |
457 | E>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7608025 rs768105237 |
458 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1215454016 COSM1323894 CA392808633 |
459 | R>Q | ovary [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
rs367795170 CA7608026 |
459 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA392808656 rs1596009583 |
460 | V>G | No |
ClinGen Ensembl |
|
|
rs188673935 CA7608028 |
462 | Q>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7608027 rs371935810 |
462 | Q>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 463 | Y>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA271396204 rs1021340351 |
463 | Y>H | No |
ClinGen gnomAD |
|
|
CA392808759 rs1596009625 |
466 | D>G | No |
ClinGen Ensembl |
|
|
CA7608030 VAR_034507 rs1802376 |
466 | D>N | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs76908230 CA392808781 |
467 | F>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA392808786 rs960643308 |
468 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs960643308 CA271396205 |
468 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA392808822 rs1418794109 |
469 | R>T | No |
ClinGen gnomAD |
|
|
CA7608034 rs780100137 COSM434136 |
475 | R>Q | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
| TCGA novel | 477 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs746946196 CA7608035 |
478 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs776064437 CA7608037 |
480 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs150339032 CA7608036 |
480 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA7608038 rs761479629 |
482 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs865854439 CA271396247 |
486 | S>F | No |
ClinGen Ensembl |
|
|
rs772488105 CA7608060 |
488 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762506335 CA7608059 |
488 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs552760571 CA7608062 CA7608061 |
491 | N>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs764654956 CA7608063 |
492 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 493 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1167577685 CA392809305 |
493 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
CA392809301 rs1167577685 |
493 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA7608064 rs376050549 |
495 | K>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs769222827 CA7608065 |
496 | Y>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750664045 CA7608067 |
499 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs1001133436 CA271396249 |
499 | T>S | No |
ClinGen Ensembl |
|
|
CA392809412 rs1297583321 |
500 | L>V | No |
ClinGen gnomAD |
|
| TCGA novel | 501 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1596010338 CA392809507 |
505 | Q>* | No |
ClinGen Ensembl |
|
|
rs779923533 CA7608069 |
505 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA392809536 rs1191304658 |
506 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
rs762163011 CA7608083 |
507 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762163011 CA7608084 |
507 | L>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7608085 rs773120118 |
508 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA392809642 rs1419285805 |
509 | K>* | No |
ClinGen gnomAD |
|
|
CA392809648 rs1161183142 |
509 | K>M | No |
ClinGen gnomAD |
|
|
rs763270451 CA7608086 CA392809650 |
509 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs766632076 CA7608087 |
512 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA392809691 rs1567334745 |
513 | A>S | No |
ClinGen Ensembl |
|
|
CA7608089 rs754822161 |
520 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1293403254 CA392809771 |
521 | I>T | No |
ClinGen TOPMed |
|
|
CA7608090 rs764229911 |
522 | S>F | No |
ClinGen ExAC gnomAD |
No associated diseases with Q13596
3 regional properties for Q13596
Functions
14 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| early endosome membrane | The lipid bilayer surrounding an early endosome. |
| endosome | A vacuole to which materials ingested by endocytosis are delivered. |
| 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. |
| lamellipodium | A thin sheetlike process extended by the leading edge of a migrating cell or extending cell process; contains a dense meshwork of actin filaments. |
| lysosome | A small lytic vacuole that has cell cycle-independent morphology found in most animal cells and that contains a variety of hydrolases, most of which have their maximal activities in the pH range 5-6. The contained enzymes display latency if properly isolated. About 40 different lysosomal hydrolases are known and lysosomes have a great variety of morphologies and functions. |
| membrane | A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it. |
| 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. |
| retromer complex | A conserved hetero-pentameric membrane-associated complex involved in retrograde transport from endosomes to the Golgi apparatus. The budding yeast retromer comprises Vps35p, Vps29p, Vps26p, Vps5p, and Vps17p. The mammalian complex shows slight variation in composition compared to yeast, and comprises SNX1 or SNX2, SNX5 or SNX6, VPS26A or VPS26B, VPS29, and VPS35. |
| retromer, tubulation complex | The dimeric subcomplex of the retromer, believed to be peripherally associated with the membrane. This dimeric complex is responsible for remodelling endosomal membranes to form a tube-structure to which cargo molecules are selected for recycling. The budding yeast complex comprises Vps5p and Vps17p, and may contain multiple copies of a Vps5p/Vps17p dimer. The mammalian complex contains SNX1 or SNX2 dimerized with SNX5 or SNX6. |
| vesicle | Any small, fluid-filled, spherical organelle enclosed by membrane. |
9 GO annotations of molecular function
| Name | Definition |
|---|---|
| cadherin binding | Binding to cadherin, a type I membrane protein involved in cell adhesion. |
| epidermal growth factor receptor binding | Binding to an epidermal growth factor receptor. |
| identical protein binding | Binding to an identical protein or proteins. |
| insulin receptor binding | Binding to an insulin receptor. |
| leptin receptor binding | Binding to a leptin receptor. |
| phosphatidylinositol binding | Binding to an inositol-containing glycerophospholipid, i.e. phosphatidylinositol (PtdIns) and its phosphorylated derivatives. |
| protein heterodimerization activity | Binding to a nonidentical protein to form a heterodimer. |
| protein homodimerization activity | Binding to an identical protein to form a homodimer. |
| transferrin receptor binding | Binding to a transferrin receptor. |
6 GO annotations of biological process
| Name | Definition |
|---|---|
| early endosome to Golgi transport | The directed movement of substances from early endosomes to the Golgi. |
| 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. |
| lamellipodium morphogenesis | A process that is carried out at the cellular level and in which the structure of a lamellipodium is organized. |
| 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. |
| receptor internalization | A receptor-mediated endocytosis process that results in the movement of receptors from the plasma membrane to the inside of the cell. The process begins when cell surface receptors are monoubiquitinated following ligand-induced activation. Receptors are subsequently taken up into endocytic vesicles from where they are either targeted to the lysosome or vacuole for degradation or recycled back to the plasma 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. |
9 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q05B62 | SNX1 | Sorting nexin-1 | Bos taurus (Bovine) | PR |
| Q3ZBM5 | SNX5 | Sorting nexin-5 | Bos taurus (Bovine) | PR |
| O95219 | SNX4 | Sorting nexin-4 | Homo sapiens (Human) | PR |
| O60749 | SNX2 | Sorting nexin-2 | Homo sapiens (Human) | PR |
| Q9Y5X3 | SNX5 | Sorting nexin-5 | Homo sapiens (Human) | PR |
| Q9CWK8 | Snx2 | Sorting nexin-2 | Mus musculus (Mouse) | PR |
| Q9WV80 | Snx1 | Sorting nexin-1 | Mus musculus (Mouse) | PR |
| Q99N27 | Snx1 | Sorting nexin-1 | Rattus norvegicus (Rat) | PR |
| Q9FG38 | SNX1 | Sorting nexin 1 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MASGGGGCSA | SERLPPPFPG | LEPESEGAAG | GSEPEAGDSD | TEGEDIFTGA | AVVSKHQSPK |
| 70 | 80 | 90 | 100 | 110 | 120 |
| ITTSLLPINN | GSKENGIHEE | QDQEPQDLFA | DATVELSLDS | TQNNQKKVLA | KTLISLPPQE |
| 130 | 140 | 150 | 160 | 170 | 180 |
| ATNSSKPQPT | YEELEEEEQE | DQFDLTVGIT | DPEKIGDGMN | AYVAYKVTTQ | TSLPLFRSKQ |
| 190 | 200 | 210 | 220 | 230 | 240 |
| FAVKRRFSDF | LGLYEKLSEK | HSQNGFIVPP | PPEKSLIGMT | KVKVGKEDSS | SAEFLEKRRA |
| 250 | 260 | 270 | 280 | 290 | 300 |
| ALERYLQRIV | NHPTMLQDPD | VREFLEKEEL | PRAVGTQTLS | GAGLLKMFNK | ATDAVSKMTI |
| 310 | 320 | 330 | 340 | 350 | 360 |
| KMNESDIWFE | EKLQEVECEE | QRLRKLHAVV | ETLVNHRKEL | ALNTAQFAKS | LAMLGSSEDN |
| 370 | 380 | 390 | 400 | 410 | 420 |
| TALSRALSQL | AEVEEKIEQL | HQEQANNDFF | LLAELLSDYI | RLLAIVRAAF | DQRMKTWQRW |
| 430 | 440 | 450 | 460 | 470 | 480 |
| QDAQATLQKK | REAEARLLWA | NKPDKLQQAK | DEILEWESRV | TQYERDFERI | STVVRKEVIR |
| 490 | 500 | 510 | 520 | ||
| FEKEKSKDFK | NHVIKYLETL | LYSQQQLAKY | WEAFLPEAKA | IS |