Q8IXQ4
Gene name |
GPALPP1 (KIAA1704, LSR7, AD029) |
Protein name |
GPALPP motifs-containing protein 1 |
Names |
Lipopolysaccharide-specific response protein 7 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:55425 |
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 Q8IXQ4
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q8IXQ4-F1 | Predicted | AlphaFoldDB |
292 variants for Q8IXQ4
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs1566068355 CA388107934 |
2 | A>T | No |
ClinGen Ensembl |
|
|
rs1451653154 CA388107947 |
3 | R>K | No |
ClinGen gnomAD |
|
|
rs767792761 CA6970706 |
3 | R>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 4 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6970707 rs750433831 |
4 | D>H | No |
ClinGen ExAC gnomAD |
|
|
rs749786966 CA6970710 |
6 | I>N | No |
ClinGen ExAC |
|
|
CA388107991 rs1168925714 |
7 | G>R | No |
ClinGen gnomAD |
|
|
rs755545201 CA6970711 |
8 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6970712 rs151117256 |
9 | A>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6970714 rs771849272 |
11 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748584524 CA6970713 |
11 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1468648566 COSM947630 CA388108061 |
14 | F>I | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
CA388108081 rs1200954156 |
15 | K>N | No |
ClinGen TOPMed |
|
|
rs1426669458 CA388108074 |
15 | K>Q | No |
ClinGen TOPMed |
|
|
CA388108092 rs1367903031 |
16 | A>V | No |
ClinGen gnomAD |
|
|
rs1436496208 CA388108095 |
17 | R>C | No |
ClinGen gnomAD |
|
|
rs1297271258 CA388108098 |
17 | R>H | No |
ClinGen gnomAD |
|
|
rs1012836860 CA249115519 |
18 | G>R | No |
ClinGen TOPMed |
|
|
CA6970717 rs773006887 |
19 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA388108119 rs773006887 |
19 | T>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746462611 CA6970718 |
21 | E>V | No |
ClinGen ExAC gnomAD |
|
|
rs770372269 CA6970719 |
22 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs9567515 CA249115553 |
24 | E>* | No |
ClinGen gnomAD |
|
|
rs9567515 CA388108170 |
24 | E>K | No |
ClinGen gnomAD |
|
|
rs1251603564 CA388108184 |
25 | R>Q | No |
ClinGen TOPMed |
|
|
rs1466169861 CA388108182 |
25 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
rs759361277 CA6970721 |
26 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA6970722 rs769827322 |
28 | S>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA388108217 rs769827322 |
28 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762739923 CA6970724 |
29 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA388108227 rs1427174103 |
30 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA388095530 rs201119186 |
31 | A>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs201119186 CA6970747 |
31 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs767368604 CA6970748 |
33 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs767368604 CA388095554 |
33 | P>Q | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 34 | A>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA388095560 rs1254239031 |
34 | A>T | No |
ClinGen gnomAD |
|
|
rs866821188 CA249085750 |
35 | L>V | No |
ClinGen Ensembl |
|
|
CA249085753 rs936258691 |
37 | P>A | No |
ClinGen Ensembl |
|
|
CA388095589 rs778253413 |
37 | P>H | No |
ClinGen ExAC gnomAD |
|
|
CA6970751 rs778253413 |
37 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs1566075396 CA388095630 |
40 | K>N | No |
ClinGen Ensembl |
|
|
CA388095626 rs1405910622 |
40 | K>R | No |
ClinGen gnomAD |
|
|
CA6970753 rs752004227 |
41 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6970755 rs756855884 |
42 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs780901562 CA6970756 |
42 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs1392410720 CA388095668 |
43 | S>R | No |
ClinGen TOPMed |
|
|
rs975848492 CA249085816 |
44 | S>L | No |
ClinGen Ensembl |
|
|
CA388095720 rs1371961749 |
47 | S>L | No |
ClinGen gnomAD |
|
|
COSM1157958 rs1370501447 CA388095776 |
50 | D>N | Variant assessed as Somatic; 0.0 impact. pancreas [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA6970758 rs769366212 |
53 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1347144086 CA388095857 |
54 | S>N | No |
ClinGen gnomAD |
|
|
CA388095878 rs1231720927 |
55 | S>C | No |
ClinGen gnomAD |
|
|
CA388095877 COSM947631 rs1231720927 |
55 | S>Y | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs749852854 CA6970760 |
58 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs774122804 CA6970762 |
60 | G>R | No |
ClinGen ExAC |
|
|
rs1593389449 CA388095979 |
61 | N>Y | No |
ClinGen Ensembl |
|
|
rs374387240 CA6970765 |
63 | E>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA388096019 rs1489500239 |
63 | E>A | No |
ClinGen gnomAD |
|
|
CA6970764 rs374387240 |
63 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA388096043 rs1210898729 |
64 | S>F | No |
ClinGen gnomAD |
|
|
CA388096046 rs1453130562 |
65 | E>K | No |
ClinGen gnomAD |
|
|
CA388096082 rs1391204634 |
66 | E>D | No |
ClinGen gnomAD |
|
|
CA388096100 rs765441196 |
67 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA388096093 rs1051193007 |
67 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
rs933953656 CA249085863 |
67 | D>N | No |
ClinGen Ensembl |
|
|
CA249085866 rs1051193007 |
67 | D>V | No |
ClinGen TOPMed gnomAD |
|
|
CA388096146 rs1352459220 |
70 | G>S | No |
ClinGen gnomAD |
|
|
CA388096160 rs1277184165 |
71 | P>A | No |
ClinGen TOPMed |
|
| TCGA novel | 71 | P>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA388096158 rs1277184165 |
71 | P>T | No |
ClinGen TOPMed |
|
|
CA388096173 rs1293609294 |
72 | T>A | No |
ClinGen gnomAD |
|
|
rs146416511 CA6970770 |
72 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1299492481 CA388096183 |
73 | A>T | No |
ClinGen gnomAD |
|
|
rs1566076419 CA388096360 |
76 | Q>* | No |
ClinGen Ensembl |
|
|
rs775699882 CA6970791 |
79 | N>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs368962766 CA249087507 |
80 | Q>E | No |
ClinGen gnomAD |
|
|
rs140772055 CA249087518 |
81 | D>N | No |
ClinGen ESP TOPMed |
|
|
CA6970793 rs763128161 |
82 | D>Y | No |
ClinGen ExAC |
|
|
rs138421508 CA388096565 |
84 | D>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6970798 rs138421508 |
84 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs762040602 CA249087581 |
85 | D>H | No |
ClinGen ExAC gnomAD |
|
|
rs762040602 CA6970799 |
85 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs1269313452 CA388096614 |
86 | D>H | No |
ClinGen gnomAD |
|
|
CA388096668 rs1214014247 |
88 | D>E | No |
ClinGen gnomAD |
|
|
rs549136323 CA6970800 |
88 | D>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA388096651 rs1451580266 |
88 | D>Y | No |
ClinGen gnomAD |
|
|
rs750797742 CA6970802 |
90 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
| rs762704412 | 92 | G>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs755746656 CA6970803 |
95 | L>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA388096822 rs1188182309 |
95 | L>V | No |
ClinGen gnomAD |
|
|
rs566815689 CA6970804 |
97 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA388096885 rs1164085981 |
98 | G>V | No |
ClinGen TOPMed |
|
|
CA6970805 rs376629564 |
104 | D>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1439892569 CA388097034 |
104 | D>N | No |
ClinGen gnomAD |
|
|
rs754500593 CA6970806 |
106 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1371384543 CA388097112 |
107 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA6970816 rs780436691 |
108 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6970817 rs201143423 |
110 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6970818 rs201143423 |
110 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6970819 rs774332471 |
111 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs773617980 CA6970822 |
116 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs761036042 CA6970823 |
117 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA249089667 rs941265455 |
117 | P>S | No |
ClinGen Ensembl |
|
|
CA388097936 rs1283691076 |
120 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
CA388097931 rs1219966872 |
120 | I>V | No |
ClinGen gnomAD |
|
| TCGA novel | 121 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA388097974 rs1296223569 |
126 | S>G | No |
ClinGen TOPMed |
|
|
CA6970827 rs764774906 |
126 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs752199424 CA6970828 |
127 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA388097982 rs1421631210 |
127 | D>Y | No |
ClinGen TOPMed |
|
|
CA388097993 rs758343811 |
128 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs777640115 CA6970830 |
129 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs751340431 CA6970831 |
131 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs780381420 CA388098026 |
133 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA6970833 rs780381420 |
133 | P>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1278664846 CA388098024 |
133 | P>S | No |
ClinGen gnomAD |
|
|
rs143551108 CA6970834 |
134 | G>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA388098040 rs1593393357 |
136 | Q>* | No |
ClinGen Ensembl |
|
| TCGA novel | 136 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1271189749 CA388098774 |
138 | T>I | No |
ClinGen gnomAD |
|
|
rs747485988 CA6970859 |
141 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA249094087 rs202130053 |
141 | S>N | No |
ClinGen Ensembl |
|
|
rs747485988 CA388098812 |
141 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1260816415 CA388098836 |
142 | E>D | No |
ClinGen gnomAD |
|
|
rs771477850 CA6970860 |
143 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA388098855 rs1189852825 |
144 | E>K | No |
ClinGen gnomAD |
|
|
CA388098883 rs1162888130 |
145 | D>G | No |
ClinGen gnomAD |
|
|
CA6970863 rs377579851 |
145 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs377579851 CA6970862 |
145 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1230296031 CA388098900 |
146 | I>T | No |
ClinGen gnomAD |
|
|
rs1188284447 CA388098914 |
147 | I>T | No |
ClinGen TOPMed |
|
|
CA6970864 rs775026805 |
148 | G>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs762483039 CA388098943 |
149 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762483039 CA6970865 |
149 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA388098955 rs1566079717 |
150 | M>T | No |
ClinGen Ensembl |
|
|
CA6970866 rs138236247 |
150 | M>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6970867 rs200442730 |
152 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1593397719 CA388099076 |
157 | N>K | No |
ClinGen Ensembl |
|
|
rs761824589 CA6970869 |
158 | Y>C | No |
ClinGen ExAC TOPMed |
|
|
rs1355768306 CA388099083 |
158 | Y>H | No |
ClinGen gnomAD |
|
|
rs767627715 CA6970870 |
159 | N>T | No |
ClinGen ExAC gnomAD |
|
|
CA388099119 rs1242180443 |
160 | V>L | No |
ClinGen TOPMed |
|
|
rs181252018 CA6970873 COSM189018 |
161 | T>M | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
CA6970872 rs181252018 |
161 | T>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6970875 rs758690550 |
163 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1011510738 CA249094208 |
165 | E>G | No |
ClinGen Ensembl |
|
|
CA388099216 rs1390124867 |
166 | K>* | No |
ClinGen TOPMed |
|
|
rs747150093 CA6970877 |
166 | K>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200876314 CA388099237 |
167 | R>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs200876314 CA6970878 |
167 | R>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA249094215 rs889458652 |
168 | A>P | No |
ClinGen Ensembl |
|
|
CA388099260 rs542957802 |
169 | Q>L | No |
ClinGen gnomAD |
|
|
CA249094217 rs542957802 |
169 | Q>P | No |
ClinGen gnomAD |
|
|
CA388099259 rs542957802 |
169 | Q>R | No |
ClinGen gnomAD |
|
|
rs1168405576 CA388099269 |
170 | R>K | No |
ClinGen TOPMed |
|
|
rs551869859 CA249094219 |
171 | M>I | No |
ClinGen gnomAD |
|
|
rs143717761 CA6970879 |
172 | K>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs77395794 CA6970880 |
173 | E>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1362624582 CA388099304 |
173 | E>Q | No |
ClinGen gnomAD |
|
|
rs770084225 CA388099332 |
175 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770084225 CA6970881 |
175 | L>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6970882 rs371089645 |
176 | T>A | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1310741661 CA388099352 |
177 | K>N | No |
ClinGen gnomAD |
|
|
rs752693280 CA6970883 |
178 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs997872756 CA249094263 |
178 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA6970909 rs772823123 |
181 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 182 | S>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs267603830 CA249094742 |
182 | S>L | No |
ClinGen TOPMed |
|
|
rs952884921 CA249094771 |
184 | K>Q | No |
ClinGen TOPMed |
|
|
rs1227982732 CA388099547 |
185 | P>L | No |
ClinGen TOPMed |
|
|
CA388099555 rs1452959625 |
186 | I>V | No |
ClinGen gnomAD |
|
|
CA388099583 rs1308005776 |
188 | R>G | No |
ClinGen Ensembl |
|
|
CA388099591 rs1593398397 |
188 | R>I | No |
ClinGen Ensembl |
|
|
CA6970913 rs147252479 |
191 | W>R | No |
ClinGen ESP ExAC gnomAD |
|
|
CA388099676 rs1397458499 |
193 | T>I | No |
ClinGen gnomAD |
|
|
rs201175008 CA249094782 |
195 | L>P | No |
ClinGen Ensembl |
|
|
rs568880282 CA6970914 |
196 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs151309735 CA6970915 |
197 | P>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs762060082 CA6970916 |
198 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA249094812 rs970025410 |
201 | D>H | No |
ClinGen Ensembl |
|
|
CA6970918 rs750572846 |
202 | F>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6970920 rs140588373 |
203 | G>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA388099917 rs754090863 |
204 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6970921 rs754090863 |
204 | L>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6970922 rs755412992 |
204 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA249094848 rs1035030446 |
205 | G>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA6970923 rs778672412 |
205 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA6970924 rs747774408 |
207 | R>K | No |
ClinGen ExAC gnomAD |
|
|
rs771904351 CA6970925 |
208 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA388100002 rs1185546937 |
209 | F>S | No |
ClinGen gnomAD |
|
| TCGA novel | 211 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA388100044 rs1318355534 |
211 | R>T | No |
ClinGen TOPMed |
|
|
CA388100075 rs1421092359 |
212 | R>G | No |
ClinGen gnomAD |
|
|
rs777138102 CA388100084 |
212 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA388100092 rs1165014693 |
212 | R>S | No |
ClinGen gnomAD |
|
|
CA6970926 rs777138102 |
212 | R>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6970927 rs746598000 |
213 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA249094887 rs746598000 |
213 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1445010413 CA388100203 |
219 | D>V | No |
ClinGen TOPMed |
|
|
rs1389245268 CA388100212 |
220 | R>* | No |
ClinGen TOPMed |
|
|
rs770707629 CA6970928 |
220 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs776645654 CA6970929 |
221 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs1184718108 CA388100250 |
223 | W>* | No |
ClinGen TOPMed |
|
|
CA388100294 rs1388017905 |
226 | T>A | No |
ClinGen gnomAD |
|
|
rs759279965 CA249094913 |
226 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759279965 CA6970930 |
226 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1292773816 CA388100304 |
227 | P>L | No |
ClinGen gnomAD |
|
|
rs1292773816 CA388100301 |
227 | P>Q | No |
ClinGen gnomAD |
|
|
rs769545631 CA388100299 |
227 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs769545631 CA6970931 |
227 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs139281660 CA6970932 |
229 | D>N | No |
ClinGen ESP ExAC gnomAD |
|
|
CA249094937 rs915323277 |
230 | R>G | No |
ClinGen gnomAD |
|
|
rs1285630249 CA388100342 |
231 | E>K | No |
ClinGen gnomAD |
|
|
rs745781463 CA6970952 |
236 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA388101940 rs1306321106 |
238 | Q>R | No |
ClinGen gnomAD |
|
|
CA6970953 rs769781122 CA249098468 |
239 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs749083020 CA6970956 |
240 | A>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 240 | A>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs749083020 CA6970955 |
240 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1436916009 CA388102059 |
245 | S>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA388102154 rs1367732976 |
249 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1273139158 CA388102210 |
252 | I>M | No |
ClinGen gnomAD |
|
|
rs766454946 CA6970959 |
252 | I>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs201980408 CA6970960 |
254 | S>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA388102230 rs201980408 |
254 | S>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1176681163 CA388102255 |
256 | R>* | No |
ClinGen gnomAD |
|
|
CA388102257 rs1254872425 |
256 | R>K | No |
ClinGen gnomAD |
|
|
rs1454543436 CA388102270 |
257 | D>H | No |
ClinGen gnomAD |
|
|
CA388102330 rs1427716068 |
260 | L>V | No |
ClinGen TOPMed |
|
|
CA388102362 rs1593404194 |
262 | E>G | No |
ClinGen Ensembl |
|
|
CA6970961 rs760111107 |
263 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs1593404216 CA388102394 |
264 | V>G | No |
ClinGen Ensembl |
|
|
CA6970962 rs765915069 |
264 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 266 | S>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1190753444 CA388102410 |
266 | S>P | No |
ClinGen TOPMed |
|
|
rs1465563646 CA388102428 |
267 | Y>C | No |
ClinGen TOPMed |
|
|
CA388103085 rs1394696356 |
271 | K>E | No |
ClinGen gnomAD |
|
|
CA6970986 rs146604110 |
274 | E>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA388103124 rs1216186689 |
277 | M>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA388103134 rs1335349985 |
278 | D>A | No |
ClinGen TOPMed gnomAD |
|
|
COSM106373 rs139408852 CA249103750 |
278 | D>N | skin [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
CA388103136 rs1335349985 |
278 | D>V | No |
ClinGen TOPMed gnomAD |
|
|
rs749873272 CA6970989 |
279 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs375918263 CA6970988 |
279 | I>V | No |
ClinGen ESP ExAC gnomAD |
|
|
rs755640220 CA6970990 |
280 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA6970991 rs779924349 |
282 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs956065476 CA249103777 |
282 | K>R | No |
ClinGen Ensembl |
|
| TCGA novel | 282 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 283 | K>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs753775576 CA6970992 |
284 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs1194465234 CA388103186 |
285 | K>N | No |
ClinGen TOPMed |
|
|
rs1190108466 CA388103221 |
290 | E>D | No |
ClinGen gnomAD |
|
|
rs1045069851 CA249103786 |
292 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
CA388103244 rs1251743673 |
293 | N>K | No |
ClinGen TOPMed |
|
|
rs754922021 CA6970993 |
293 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA388103254 rs1163282915 |
295 | P>A | No |
ClinGen gnomAD |
|
|
CA6970994 rs140198634 |
295 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6970995 rs571780303 |
300 | P>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA388103291 rs571780303 |
300 | P>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs771121202 CA6970996 |
302 | D>A | No |
ClinGen ExAC gnomAD |
|
|
rs781578978 COSM1367014 CA6970997 |
303 | R>C | large_intestine Variant assessed as Somatic; 4.62e-05 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA6970998 rs745895343 |
303 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1440859246 CA388103322 |
305 | K>E | No |
ClinGen Ensembl |
|
|
rs1227988962 CA388103337 |
307 | L>V | No |
ClinGen TOPMed |
|
|
CA249103841 rs865930227 |
308 | K>R | No |
ClinGen Ensembl |
|
|
rs770026778 CA6970999 |
309 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs367606015 CA6971002 |
311 | R>Q | No |
ClinGen ESP ExAC gnomAD |
|
|
rs778797647 CA6971001 |
311 | R>W | No |
ClinGen ExAC |
|
|
rs1330161363 CA388103815 |
312 | F>S | No |
ClinGen gnomAD |
|
|
CA388103822 rs1318672040 |
313 | D>N | No |
ClinGen gnomAD |
|
|
rs1239441247 CA388103848 |
315 | A>T | No |
ClinGen gnomAD |
|
|
CA6971004 rs372113948 |
317 | K>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6971005 rs143924848 |
319 | A>T | No |
ClinGen ESP ExAC gnomAD |
|
|
CA388103903 rs1371521005 |
319 | A>V | No |
ClinGen TOPMed |
|
|
CA6971006 rs554127017 |
320 | L>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA6971009 rs760357344 |
321 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
| rs1566086213 | 323 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 324 | S>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 324 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA388103968 rs765851352 |
325 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765851352 CA6971010 |
325 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1015373932 CA249103906 |
325 | R>T | No |
ClinGen TOPMed |
|
|
CA6971011 rs753349879 |
326 | E>K | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 331 | F>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA388104088 rs1378820068 |
333 | H>R | No |
ClinGen gnomAD |
|
|
rs1375751912 CA388104123 |
335 | K>T | No |
ClinGen gnomAD |
|
|
CA388104138 rs1566086249 |
336 | G>R | No |
ClinGen Ensembl |
|
|
CA6971015 rs140810909 |
337 | N>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs758291758 CA388104177 |
338 | M>R | No |
ClinGen ExAC gnomAD |
|
|
CA6971016 rs758291758 |
338 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs543697222 CA6971017 |
340 | L>* | No |
ClinGen 1000Genomes ExAC gnomAD |
No associated diseases with Q8IXQ4
1 regional properties for Q8IXQ4
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Domain of unknown function DUF3752 | 196 - 332 | IPR022226 |
No GO annotations of cellular component
| Name | Definition |
|---|---|
| No GO annotations for cellular component |
No GO annotations of molecular function
| Name | Definition |
|---|---|
| No GO annotations for molecular function |
No GO annotations of biological process
| Name | Definition |
|---|---|
| No GO annotations for biological process |
1 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q69ZC8 | Gpalpp1 | GPALPP motifs-containing protein 1 | Mus musculus (Mouse) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MARDLIGPAL | PPGFKARGTA | EDEERDPSPV | AGPALPPNYK | SSSSDSSDSD | EDSSSLYEEG |
| 70 | 80 | 90 | 100 | 110 | 120 |
| NQESEEDDSG | PTARKQRKNQ | DDDDDDDDGF | FGPALPPGFK | KQDDSPPRPI | IGPALPPGFI |
| 130 | 140 | 150 | 160 | 170 | 180 |
| KSTQKSDKGR | DDPGQQETDS | SEDEDIIGPM | PAKGPVNYNV | TTEFEKRAQR | MKEKLTKGDD |
| 190 | 200 | 210 | 220 | 230 | 240 |
| DSSKPIVRES | WMTELPPEMK | DFGLGPRTFK | RRADDTSGDR | SIWTDTPADR | ERKAKETQEA |
| 250 | 260 | 270 | 280 | 290 | 300 |
| RKSSSKKDEE | HILSGRDKRL | AEQVSSYNES | KRSESLMDIH | HKKLKSKAAE | DKNKPQERIP |
| 310 | 320 | 330 | |||
| FDRDKDLKVN | RFDEAQKKAL | IKKSRELNTR | FSHGKGNMFL |