O95219
PR
Gene name |
SNX4 |
Protein name |
Sorting nexin-4 |
Names |
|
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:8723 |
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 O95219
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-O95219-F1 | Predicted | AlphaFoldDB |
359 variants for O95219
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs753462412 CA2585939 |
2 | E>* | No |
ClinGen ExAC gnomAD |
|
|
CA83145592 rs1030783279 |
2 | E>A | No |
ClinGen TOPMed |
|
|
rs534905712 CA83145588 |
2 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1424486192 CA354299635 |
3 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1233951925 CA354299632 |
3 | Q>R | No |
ClinGen TOPMed |
|
|
CA83145580 rs1017738081 |
4 | A>E | No |
ClinGen TOPMed gnomAD |
|
|
CA354299626 rs1197326670 |
4 | A>P | No |
ClinGen TOPMed |
|
| TCGA novel | 4 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA354299623 rs1017738081 |
4 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1187684371 CA354299619 |
5 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1336142778 CA354299620 |
5 | P>S | No |
ClinGen gnomAD |
|
|
CA354299615 rs1461643025 |
6 | P>A | No |
ClinGen gnomAD |
|
|
CA83145529 rs1003304441 |
7 | D>A | No |
ClinGen TOPMed |
|
|
CA83145525 rs1003304441 |
7 | D>G | No |
ClinGen TOPMed |
|
|
rs888006108 CA354299610 COSM51322 |
7 | D>N | breast [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
CA83145550 rs888006108 |
7 | D>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs761500946 CA2585934 |
8 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA354299603 rs1273031570 |
8 | P>S | No |
ClinGen gnomAD |
|
|
rs28384509 CA83145506 |
9 | E>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs28384509 CA2585933 |
9 | E>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs763198244 CA2585931 CA354299583 |
11 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1406393985 CA354299586 |
11 | Q>P | No |
ClinGen TOPMed |
|
|
CA354299580 rs1304983359 |
12 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
rs769959511 CA2585930 |
13 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA83145495 rs906860033 |
13 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
CA83145470 rs781760479 |
14 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2585927 rs781760479 |
14 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746009866 CA2585928 |
14 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746009866 CA354299570 |
14 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1045845691 CA83145465 |
15 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
CA2585925 rs747473917 |
15 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1385410317 CA354299560 |
16 | P>H | No |
ClinGen gnomAD |
|
|
CA354299561 rs1386813367 |
16 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA2585923 rs202086209 |
17 | L>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA83145448 rs894430502 |
17 | L>S | No |
ClinGen TOPMed |
|
|
CA2585922 rs753507857 |
19 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753507857 CA354299542 |
19 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA83145419 rs753507857 |
19 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1054264738 CA354299543 |
19 | P>S | No |
ClinGen gnomAD |
|
|
rs1054264738 CA83145429 |
19 | P>T | No |
ClinGen gnomAD |
|
|
rs554113221 CA2585920 |
22 | S>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2585921 rs554113221 |
22 | S>Y | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs749993977 CA2585919 |
23 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1222722667 CA354299524 |
23 | P>S | No |
ClinGen gnomAD |
|
|
CA354299517 rs1315206739 |
24 | D>A | No |
ClinGen gnomAD |
|
|
rs977329809 CA83145405 |
24 | D>E | No |
ClinGen gnomAD |
|
|
rs1047197581 CA83145411 |
24 | D>H | No |
ClinGen TOPMed |
|
|
CA2585918 rs767030557 |
25 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs540264131 CA354299507 |
26 | G>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs540264131 CA2585917 |
26 | G>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA354299495 rs1314965622 |
28 | G>V | No |
ClinGen TOPMed |
|
|
rs751486897 CA2585916 |
29 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA2585915 rs763904166 |
30 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs934188658 CA83145353 |
32 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
rs762692302 CA2585914 |
36 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2585912 rs765610863 |
38 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA354299434 rs1178832781 |
38 | A>V | No |
ClinGen gnomAD |
|
|
rs776784341 CA2585910 |
39 | G>R | No |
ClinGen ExAC TOPMed |
|
|
rs1199528774 CA354299428 |
40 | E>K | No |
ClinGen gnomAD |
|
|
rs1445967865 CA354299405 |
42 | S>R | No |
ClinGen TOPMed |
|
|
CA354299408 rs1382154276 |
42 | S>T | No |
ClinGen TOPMed gnomAD |
|
|
CA2585908 rs367841806 |
45 | V>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2585907 rs367841806 |
45 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA354299386 rs1400947469 |
46 | D>N | No |
ClinGen TOPMed |
|
|
rs976498273 CA83145264 |
47 | T>K | No |
ClinGen TOPMed |
|
|
rs976498273 CA354299376 |
47 | T>M | No |
ClinGen TOPMed |
|
|
rs1553728628 CA2585888 |
51 | N>S | No |
ClinGen Ensembl |
|
|
rs760709499 CA2585887 |
53 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA83134640 rs760709499 |
53 | F>V | No |
ClinGen ExAC gnomAD |
|
|
CA354299134 rs1391690511 |
58 | I>L | No |
ClinGen gnomAD |
|
| TCGA novel | 59 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1580006994 CA354299122 |
59 | E>Q | No |
ClinGen Ensembl |
|
|
CA354299081 rs1463864592 |
61 | S>R | No |
ClinGen gnomAD |
|
|
CA83134624 rs1020073740 |
61 | S>T | No |
ClinGen TOPMed |
|
|
CA2585883 rs774635081 |
63 | S>L | No |
ClinGen ExAC |
|
|
rs769042857 CA2585882 |
64 | E>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 66 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA354299019 rs1559824388 |
66 | E>G | No |
ClinGen Ensembl |
|
|
CA354299009 rs1484529547 |
67 | K>E | No |
ClinGen gnomAD |
|
|
CA2585881 rs745478052 |
68 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2585880 rs780760198 |
68 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs756783522 CA354298982 |
70 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756783522 CA2585879 |
70 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200302804 CA83134570 |
73 | A>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA2585878 rs200302804 |
73 | A>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1220016371 CA354298964 |
73 | A>V | No |
ClinGen TOPMed |
|
|
rs1364132584 CA354298957 |
74 | M>T | No |
ClinGen gnomAD |
|
| TCGA novel | 75 | N>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2585876 CA2585877 rs150591161 |
76 | M>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA354298941 rs1267858724 |
76 | M>T | No |
ClinGen TOPMed |
|
|
CA2585875 rs765073894 |
77 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
rs765073894 CA2585874 |
77 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA2585872 rs754081227 |
82 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA354298895 rs1166280989 |
83 | Y>C | No |
ClinGen gnomAD |
|
|
CA354298888 rs1192818218 |
84 | L>F | No |
ClinGen TOPMed |
|
|
rs766577378 CA2585871 |
85 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1009239438 CA83130294 |
90 | V>A | No |
ClinGen TOPMed |
|
|
CA2585855 rs754817040 |
90 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs996539958 CA83130258 |
92 | H>D | No |
ClinGen Ensembl |
|
|
CA2585853 rs779915086 |
92 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1352273072 CA354297870 |
92 | H>R | No |
ClinGen gnomAD |
|
|
CA354297856 rs1285704605 |
93 | T>I | No |
ClinGen gnomAD |
|
|
rs1285704605 CA354297854 |
93 | T>N | No |
ClinGen gnomAD |
|
|
CA2585849 rs761933410 |
94 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA2585850 rs767449080 |
94 | D>H | No |
ClinGen ExAC gnomAD |
|
|
rs371775942 CA2585847 |
95 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs867482740 CA83130203 |
97 | S>G | No |
ClinGen Ensembl |
|
|
CA354297803 rs1345247530 |
97 | S>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1004940810 CA83130187 |
103 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
rs138982289 CA83130141 |
104 | W>G | No |
ClinGen ESP ExAC TOPMed |
|
|
rs138982289 CA2585844 |
104 | W>R | No |
ClinGen ESP ExAC TOPMed |
|
|
rs772965145 CA2585843 |
105 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2585840 rs747727272 |
105 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747727272 CA2585841 |
105 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772965145 COSM1418585 CA2585842 |
105 | R>W | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA354297687 rs1580002771 |
106 | R>* | No |
ClinGen Ensembl |
|
|
CA354297684 rs1463045918 |
106 | R>Q | No |
ClinGen TOPMed |
|
|
rs768657822 CA2585838 |
108 | S>G | No |
ClinGen ExAC |
|
|
CA2585837 rs749255696 |
108 | S>I | No |
ClinGen ExAC gnomAD |
|
|
CA83130089 rs77865802 |
111 | E>* | No |
ClinGen gnomAD |
|
|
CA354297598 rs77865802 |
111 | E>K | No |
ClinGen gnomAD |
|
|
rs755962371 CA2585835 |
114 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs1470526509 CA354297519 |
115 | S>N | No |
ClinGen TOPMed |
|
|
rs748993270 CA2585832 |
116 | Y>* | No |
ClinGen ExAC |
|
|
CA2585833 rs781436935 |
116 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs750591901 CA2585834 |
116 | Y>H | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 117 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1580002729 CA354297448 |
120 | Y>S | No |
ClinGen Ensembl |
|
|
rs1227221085 CA354297435 |
121 | Y>H | No |
ClinGen gnomAD |
|
|
rs1433772505 CA354297377 |
125 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA354297321 rs1436361426 |
129 | L>P | No |
ClinGen gnomAD |
|
|
rs1391427898 CA354297307 |
130 | P>L | No |
ClinGen gnomAD |
|
|
CA2585828 rs371584750 |
131 | E>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| rs1477156669 | 133 | R>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs765495123 CA2585826 |
133 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2585827 rs753268593 |
133 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA354297224 rs1367728591 |
135 | E>Q | No |
ClinGen gnomAD |
|
|
CA354297168 rs1272881175 |
138 | W>R | No |
ClinGen TOPMed |
|
|
rs772861512 CA2585818 |
143 | A>T | No |
ClinGen ExAC TOPMed |
|
|
CA354297013 rs1559822284 |
145 | N>S | No |
ClinGen Ensembl |
|
|
rs1434944049 CA354296954 |
147 | D>G | No |
ClinGen gnomAD |
|
|
rs1184421388 CA354296934 |
148 | P>S | No |
ClinGen TOPMed |
|
|
CA2585816 rs145924249 |
150 | F>L | No |
ClinGen ESP ExAC |
|
| TCGA novel | 153 | R>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1267119001 CA354296822 |
153 | R>K | No |
ClinGen TOPMed |
|
|
CA83129909 rs912636364 |
154 | R>* | No |
ClinGen TOPMed gnomAD |
|
|
CA2585815 rs745747650 |
154 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA2585814 rs780975407 |
155 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs767766020 CA83129905 |
155 | R>W | No |
ClinGen gnomAD |
|
|
CA354296737 rs1169411157 |
158 | L>F | No |
ClinGen gnomAD |
|
|
CA354296599 rs1473076703 |
165 | I>T | No |
ClinGen gnomAD |
|
|
rs1284754273 CA354296551 |
168 | H>R | No |
ClinGen TOPMed |
|
|
CA83129848 rs374207034 |
168 | H>Y | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1333224684 CA354296535 |
169 | P>T | No |
ClinGen TOPMed |
|
|
CA83129831 rs934382242 |
170 | I>T | No |
ClinGen Ensembl |
|
|
rs112233349 CA83129843 |
170 | I>V | No |
ClinGen Ensembl |
|
|
CA2585809 rs765838310 |
171 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA2585808 rs765838310 |
171 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA83129824 rs912346168 |
172 | C>F | No |
ClinGen Ensembl |
|
|
rs1251299273 CA354296470 |
172 | C>W | No |
ClinGen TOPMed |
|
|
CA2585807 rs755283729 |
174 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs371106210 CA83129787 |
176 | I>T | No |
ClinGen ESP TOPMed |
|
|
rs986871379 CA83129794 |
176 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1295847289 CA354296392 |
177 | F>I | No |
ClinGen gnomAD |
|
|
CA354296331 rs1214419231 |
179 | L>R | No |
ClinGen gnomAD |
|
|
rs1289695278 CA354296341 |
179 | L>V | No |
ClinGen TOPMed |
|
|
CA354296309 rs1269696692 |
180 | F>L | No |
ClinGen TOPMed |
|
|
CA83129550 rs1050838251 |
184 | E>D | No |
ClinGen Ensembl |
|
|
rs778009746 CA2585791 |
185 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA354295364 rs1444739058 |
186 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
CA354295331 rs1227039982 |
187 | W>* | No |
ClinGen gnomAD |
|
|
CA354295322 rs1334780138 |
188 | K>E | No |
ClinGen gnomAD |
|
|
rs758403248 CA2585790 |
188 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs1415363027 CA354295295 |
189 | E>G | No |
ClinGen TOPMed |
|
|
CA83129531 rs867508272 |
191 | V>L | No |
ClinGen Ensembl |
|
|
CA354295222 rs1411816514 |
193 | E>A | No |
ClinGen gnomAD |
|
|
rs748317255 CA2585789 |
195 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 197 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 199 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA354295097 rs1336727998 |
199 | K>R | No |
ClinGen gnomAD |
|
|
rs1219898433 CA354293427 |
200 | A>T | No |
ClinGen gnomAD |
|
|
CA2585777 rs776597280 |
201 | D>H | No |
ClinGen ExAC gnomAD |
|
|
rs770680471 CA2585776 |
202 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs376043460 CA2585773 |
206 | A>G | No |
ClinGen ESP ExAC gnomAD |
|
|
COSM1037666 rs376043460 CA2585772 |
206 | A>V | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA gnomAD |
| TCGA novel | 207 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs768642965 CA2585769 |
210 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA83122843 rs906770151 |
211 | F>C | No |
ClinGen TOPMed gnomAD |
|
|
CA83122840 rs759822465 COSM1683066 |
212 | R>G | kidney [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
rs757965350 CA2585767 |
216 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 216 | P>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2585766 rs756546610 |
217 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1023866703 CA83122815 |
218 | K>R | No |
ClinGen TOPMed |
|
|
rs1170014623 CA354292943 |
220 | F>L | No |
ClinGen TOPMed |
|
|
CA2585752 rs774487218 |
222 | D>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2585753 rs774487218 |
222 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA354292923 rs1357049520 |
223 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA354292924 rs1357049520 |
223 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs768752977 CA2585751 |
224 | K>M | No |
ClinGen ExAC gnomAD |
|
|
CA2585750 rs749448220 |
225 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs559488942 CA2585749 |
226 | Y>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs201740643 CA83115849 |
227 | S>N | No |
ClinGen TOPMed |
|
|
CA354292894 rs201740643 |
227 | S>T | No |
ClinGen TOPMed |
|
|
rs770371278 CA2585748 |
229 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs746403640 CA2585747 |
230 | L>M | No |
ClinGen ExAC gnomAD |
|
|
rs781567465 CA2585746 |
232 | S>C | No |
ClinGen ExAC |
|
|
CA2585744 rs747803417 |
233 | V>D | No |
ClinGen ExAC gnomAD |
|
|
rs549403092 CA2585745 |
233 | V>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA2585743 rs778495568 |
236 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1276498948 CA354292824 |
238 | L>P | No |
ClinGen gnomAD |
|
|
CA83115742 rs928076112 |
239 | R>Q | No |
ClinGen Ensembl |
|
|
CA354292804 rs1325751301 |
242 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1409949723 CA354292778 |
244 | V>L | No |
ClinGen gnomAD |
|
|
CA354292766 rs1351929072 |
246 | D>Y | No |
ClinGen gnomAD |
|
|
CA354292759 rs1305746817 |
247 | R>* | No |
ClinGen gnomAD |
|
|
CA2585724 rs778205850 |
247 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779498870 CA2585721 |
249 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA354292740 rs1416426710 |
250 | G>D | No |
ClinGen gnomAD |
|
|
CA2585720 rs755660601 |
251 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767410178 CA2585718 |
252 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs757067885 CA2585716 |
254 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751243460 CA2585715 |
255 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1224169159 CA354292691 |
258 | Y>H | No |
ClinGen TOPMed |
|
| TCGA novel | 260 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs763231294 CA2585713 |
261 | V>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 263 | S>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2585712 rs775898431 |
263 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA354292638 rs531379537 |
264 | E>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs531379537 CA2585694 |
264 | E>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA354292628 rs1230635432 |
265 | W>* | No |
ClinGen gnomAD |
|
|
CA354292632 rs1456928724 |
265 | W>R | No |
ClinGen TOPMed |
|
|
CA2585693 rs752957107 |
268 | I>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 269 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1178723396 CA354292575 |
272 | M>T | No |
ClinGen TOPMed |
|
|
rs1241379543 CA354292553 |
275 | G>E | No |
ClinGen gnomAD |
|
|
rs1436382999 CA354292543 |
277 | Q>* | No |
ClinGen gnomAD |
|
|
rs759810174 CA354292500 |
283 | M>L | No |
ClinGen ExAC gnomAD |
|
|
CA354292498 rs1400231989 |
283 | M>T | No |
ClinGen gnomAD |
|
|
rs759810174 CA2585691 |
283 | M>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA354292493 rs1218526833 |
284 | D>N | No |
ClinGen gnomAD |
|
|
CA2585690 rs150435491 |
285 | V>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA354299354 rs1271334872 |
287 | A>T | No |
ClinGen gnomAD |
|
|
rs780600646 CA2585658 |
293 | I>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2585659 rs140421715 |
293 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 296 | D>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA354299168 rs1444673809 |
303 | Q>* | No |
ClinGen gnomAD |
|
|
CA83145891 rs994489478 |
303 | Q>R | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 306 | E>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs762309860 CA2585656 |
307 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA354299072 rs1424313952 |
310 | Y>D | No |
ClinGen TOPMed gnomAD |
|
| rs755489010 | 310 | Y>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2585653 rs375551326 |
312 | E>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2585652 rs759066600 |
315 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs545185205 CA83145855 |
315 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes NCI-TCGA gnomAD |
|
CA2585639 rs750433587 |
316 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA2585638 rs767594625 |
317 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA354298695 rs1176967719 |
317 | V>M | No |
ClinGen gnomAD |
|
|
CA2585637 rs757708837 |
321 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA83143550 rs1016970785 |
322 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
rs752087859 CA2585636 |
322 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs34600301 CA2585635 |
324 | M>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA83143549 rs373626857 |
324 | M>V | No |
ClinGen ESP TOPMed |
|
|
CA354298560 rs1315318930 |
326 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
CA83143534 rs1046866811 |
329 | E>K | No |
ClinGen TOPMed |
|
|
rs1220054644 CA354298497 |
330 | M>I | No |
ClinGen gnomAD |
|
|
rs765992181 CA2585632 |
332 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA2585633 rs776147076 |
332 | A>P | No |
ClinGen ExAC gnomAD |
|
|
rs1440065671 CA354298460 |
333 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
rs772800406 CA2585630 |
335 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs752588503 CA83143499 |
335 | L>V | No |
ClinGen Ensembl |
|
|
rs771740682 CA2585629 |
337 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA83143479 rs943107980 |
339 | K>Q | No |
ClinGen gnomAD |
|
|
CA354298363 rs1436200291 |
341 | Q>E | No |
ClinGen TOPMed gnomAD |
|
|
rs748067374 CA2585628 |
341 | Q>L | No |
ClinGen ExAC gnomAD |
|
|
CA83143474 rs984586910 |
344 | E>D | No |
ClinGen gnomAD |
|
|
rs1398093112 CA354298319 |
346 | V>A | No |
ClinGen gnomAD |
|
|
rs1484905248 CA354298325 |
346 | V>L | No |
ClinGen gnomAD |
|
| TCGA novel | 347 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1273436573 CA354298313 |
347 | T>P | No |
ClinGen TOPMed |
|
|
rs749172196 CA2585625 |
348 | G>E | No |
ClinGen ExAC gnomAD |
|
|
TCGA novel rs1187411134 CA354297113 |
353 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen gnomAD NCI-TCGA |
|
rs751021545 CA2585591 |
355 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA354297066 rs1252385796 |
356 | K>T | No |
ClinGen gnomAD |
|
|
CA354297045 rs1385571839 |
357 | G>E | No |
ClinGen TOPMed |
|
| TCGA novel | 358 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1266008885 CA354296995 |
360 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
rs142294354 CA83141166 |
362 | L>F | No |
ClinGen ESP TOPMed |
|
|
CA354296937 rs141423057 |
363 | F>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1331979955 CA354296905 |
365 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1331979955 CA354296908 |
365 | Q>E | No |
ClinGen TOPMed gnomAD |
|
|
rs775325527 CA2585588 |
365 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs199650513 CA2585586 |
367 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs769550840 CA2585587 |
367 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA354296789 rs1440244575 |
371 | R>G | No |
ClinGen Ensembl |
|
|
CA2585584 rs146643473 COSM1752881 |
371 | R>T | urinary_tract [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs1307512393 CA354296770 |
372 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA354296766 rs1307512393 |
372 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs747220686 CA2585583 |
373 | A>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 374 | R>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA354296699 rs1216685714 |
375 | I>R | No |
ClinGen gnomAD |
|
|
rs777871631 CA2585582 |
376 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs1248679510 CA354296616 |
379 | E>D | No |
ClinGen TOPMed |
|
|
rs1307320676 CA354296576 |
381 | Q>L | No |
ClinGen TOPMed |
|
|
rs1325658455 CA354296503 |
385 | G>R | No |
ClinGen gnomAD |
|
|
rs772085507 CA2585581 |
388 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA2585579 rs372481066 |
390 | K>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA354296387 rs1365799770 |
390 | K>R | No |
ClinGen gnomAD |
|
|
rs200875272 CA83141057 |
393 | N>H | No |
ClinGen 1000Genomes |
|
|
rs1262504189 CA354296330 |
393 | N>T | No |
ClinGen TOPMed |
|
|
CA354296315 rs1579971126 |
394 | L>M | No |
ClinGen Ensembl |
|
|
CA2585555 rs777344647 |
398 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1316328685 CA354295603 |
399 | F>L | No |
ClinGen gnomAD |
|
|
CA354295615 rs1328207234 |
399 | F>L | No |
ClinGen gnomAD |
|
|
CA2585553 rs752149134 |
402 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA354295557 rs764751949 |
403 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1037660 rs764751949 CA2585552 |
403 | A>T | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA2585551 rs754873266 |
405 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs753815050 CA2585550 |
407 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs766176952 CA2585549 |
409 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2585548 rs760446516 |
409 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA354295451 rs1211158485 |
410 | F>L | No |
ClinGen TOPMed |
|
|
rs773478621 CA2585547 |
412 | E>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 414 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1239851357 CA354295330 |
416 | R>* | No |
ClinGen TOPMed gnomAD |
|
|
CA2585546 rs201846490 |
416 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed |
|
|
CA2585545 rs780318322 |
417 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA2585543 rs768884950 |
419 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1259239608 CA354295271 |
419 | K>Q | No |
ClinGen gnomAD |
|
| TCGA novel | 420 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2585542 CA354295228 rs749778290 |
420 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs1033924284 CA83139396 |
421 | A>V | No |
ClinGen Ensembl |
|
|
CA2585541 rs776183738 |
422 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs77796301 CA83139393 |
423 | I>R | No |
ClinGen Ensembl |
|
|
rs770178489 CA2585540 |
424 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs1268487226 CA354295165 |
424 | S>R | No |
ClinGen gnomAD |
|
|
rs746156073 CA2585539 |
425 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA354295158 rs1170520375 |
425 | Y>H | No |
ClinGen TOPMed |
|
|
CA83139378 rs867060820 |
426 | A>V | No |
ClinGen Ensembl |
|
|
rs1314956543 CA354295089 |
428 | M>T | No |
ClinGen gnomAD |
|
|
rs1413178115 CA354295064 |
429 | Q>H | No |
ClinGen gnomAD |
|
|
CA354295037 rs1374567744 |
431 | S>I | No |
ClinGen gnomAD |
|
|
CA354295040 rs1374567744 |
431 | S>N | No |
ClinGen gnomAD |
|
|
rs1001497505 CA83139376 |
433 | C>S | No |
ClinGen TOPMed |
|
|
CA2585536 rs747832666 |
434 | K>T | No |
ClinGen ExAC gnomAD |
|
|
rs1417341185 CA354294970 |
435 | K>M | No |
ClinGen gnomAD |
|
| TCGA novel | 435 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 436 | G>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs139711442 CA2585515 |
439 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs145960363 CA2585514 |
441 | T>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA354294115 rs1231535478 |
442 | N>D | No |
ClinGen gnomAD |
|
|
rs370536148 CA2585513 |
442 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA354294090 rs1311768219 |
444 | K>E | No |
ClinGen TOPMed |
|
|
CA354294083 rs1340676188 |
444 | K>R | No |
ClinGen TOPMed |
|
| TCGA novel | 446 | C>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs778595303 CA2585512 |
446 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
rs768151342 CA2585511 |
447 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA354294020 rs1321322515 |
448 | S>N | No |
ClinGen gnomAD |
|
|
CA354294015 rs1285154096 |
448 | S>R | No |
ClinGen gnomAD |
|
|
CA2585508 rs185832018 |
450 | M>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
No associated diseases with O95219
Functions
8 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| cytoplasmic dynein complex | Any dynein complex with a homodimeric dynein heavy chain core that catalyzes movement along a microtubule. Cytoplasmic dynein complexes participate in many cytoplasmic transport activities in eukaryotes, such as mRNA localization, intermediate filament transport, nuclear envelope breakdown, apoptosis, transport of centrosomal proteins, mitotic spindle assembly, virus transport, kinetochore functions, and movement of signaling and spindle checkpoint proteins. Some complexes participate in intraflagellar transport. Subunits associated with the dynein heavy chain mediate association between dynein heavy chain and cargoes, and may include light chains and light intermediate chains. |
| 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. |
| membrane | A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
| 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. |
| SNARE complex | A protein complex involved in membrane fusion; a stable ternary complex consisting of a four-helix bundle, usually formed from one R-SNARE and three Q-SNAREs with an ionic layer sandwiched between hydrophobic layers. One well-characterized example is the neuronal SNARE complex formed of synaptobrevin 2, syntaxin 1a, and SNAP-25. |
6 GO annotations of molecular function
| Name | Definition |
|---|---|
| epidermal growth factor receptor binding | Binding to an epidermal growth factor receptor. |
| 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. |
| phosphatidylinositol-3-phosphate binding | Binding to phosphatidylinositol-3-phosphate, a derivative of phosphatidylinositol in which the inositol ring is phosphorylated at the 3' position. |
| transferrin receptor binding | Binding to a transferrin receptor. |
4 GO annotations of biological process
| Name | Definition |
|---|---|
| endocytic recycling | The directed movement of membrane-bounded vesicles from endosomes back to the plasma membrane, a trafficking pathway that promotes the recycling of internalized transmembrane proteins. |
| positive regulation of autophagosome assembly | Any process that activates or increases the frequency, rate or extent of autophagic vacuole assembly. |
| positive regulation of histamine secretion by mast cell | Any process that activates or increases the frequency, rate or extent of histamine secretion by mast cell. |
| protein transport | The directed movement of proteins into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. |
7 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q05B62 | SNX1 | Sorting nexin-1 | Bos taurus (Bovine) | PR |
| Q13596 | SNX1 | Sorting nexin-1 | Homo sapiens (Human) | PR |
| O60749 | SNX2 | Sorting nexin-2 | Homo sapiens (Human) | PR |
| Q9WV80 | Snx1 | Sorting nexin-1 | Mus musculus (Mouse) | PR |
| Q9CWK8 | Snx2 | Sorting nexin-2 | 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 |
| MEQAPPDPER | QLQPAPLEPL | GSPDAGLGAA | VGKEAEGAGE | ESSGVDTMTH | NNFWLKKIEI |
| 70 | 80 | 90 | 100 | 110 | 120 |
| SVSEAEKRTG | RNAMNMQETY | TAYLIETRSV | EHTDGQSVLT | DSLWRRYSEF | ELLRSYLLVY |
| 130 | 140 | 150 | 160 | 170 | 180 |
| YPHIVVPPLP | EKRAEFVWHK | LSADNMDPDF | VERRRIGLEN | FLLRIASHPI | LCRDKIFYLF |
| 190 | 200 | 210 | 220 | 230 | 240 |
| LTQEGNWKET | VNETGFQLKA | DSRLKALNAT | FRVKNPDKRF | TDLKHYSDEL | QSVISHLLRV |
| 250 | 260 | 270 | 280 | 290 | 300 |
| RARVADRLYG | VYKVHGNYGR | VFSEWSAIEK | EMGDGLQSAG | HHMDVYASSI | DDILEDEEHY |
| 310 | 320 | 330 | 340 | 350 | 360 |
| ADQLKEYLFY | AEALRAVCRK | HELMQYDLEM | AAQDLASKKQ | QCEELVTGTV | RTFSLKGMTT |
| 370 | 380 | 390 | 400 | 410 | 420 |
| KLFGQETPEQ | REARIKVLEE | QINEGEQQLK | SKNLEGREFV | KNAWADIERF | KEQKNRDLKE |
| 430 | 440 | ||||
| ALISYAVMQI | SMCKKGIQVW | TNAKECFSKM |