Q9BWW8
PR
Gene name |
APOL6 (UNQ3095/PRO21341) |
Protein name |
Apolipoprotein L6 |
Names |
Apolipoprotein L-VI, ApoL-VI |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:80830 |
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 Q9BWW8
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q9BWW8-F1 | Predicted | AlphaFoldDB |
305 variants for Q9BWW8
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA10206062 rs200976901 |
3 | N>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs5750145 CA10206061 |
3 | N>S | No |
ClinGen ExAC |
|
|
CA323554429 rs5750145 |
3 | N>T | No |
ClinGen ExAC |
|
|
CA10206060 rs369673517 |
3 | N>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10206063 rs763919417 |
5 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10206068 rs755756726 |
6 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs767308597 CA10206067 |
6 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs767308597 CA10206066 |
6 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs748723037 CA10206070 |
8 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 9 | S>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10206071 rs754555812 |
11 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs778101319 CA10206073 |
12 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA10206074 rs747573264 |
12 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs1489876155 CA411363106 |
13 | V>I | No |
ClinGen gnomAD |
|
|
rs746303294 CA10206077 |
16 | Q>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs537387869 CA10206079 |
17 | R>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs537387869 CA10206078 |
17 | R>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA323554549 rs537387869 |
17 | R>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA323555647 rs939894049 |
18 | D>E | No |
ClinGen gnomAD |
|
|
CA323555643 rs774480645 |
18 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10206100 rs774480645 |
18 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10206102 rs771968404 |
20 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs369986072 CA411363716 |
21 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA411363721 rs1339159022 |
22 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
rs760414599 CA10206104 |
22 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA411363722 rs1339159022 |
22 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA10206105 rs766228407 |
23 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA411363725 rs1432714126 |
23 | P>S | No |
ClinGen TOPMed |
|
|
rs897816259 CA323555675 |
24 | L>V | No |
ClinGen TOPMed |
|
|
CA10206106 rs753366134 |
25 | C>R | No |
ClinGen ExAC gnomAD |
|
|
CA411363759 rs1222207608 |
28 | V>G | No |
ClinGen gnomAD |
|
|
CA10206108 rs764855542 |
28 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA411363768 rs1247573067 |
30 | L>I | No |
ClinGen TOPMed |
|
|
rs1186636120 CA411363775 |
31 | Q>* | No |
ClinGen gnomAD |
|
|
rs138391724 CA323555702 |
31 | Q>R | No |
ClinGen ESP |
|
|
CA323555705 rs1027756545 |
32 | D>N | No |
ClinGen Ensembl |
|
|
CA10206110 rs373548173 |
33 | G>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs781758269 CA10206111 |
34 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
rs750985299 CA10206112 |
35 | L>M | No |
ClinGen ExAC gnomAD |
|
|
rs1024852796 CA323555722 |
35 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
CA10206113 rs529203399 |
36 | S>Y | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs977637322 CA323555754 |
38 | E>G | No |
ClinGen Ensembl |
|
|
CA10206117 rs779047404 |
38 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
| TCGA novel | 40 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA411363827 rs1175010135 |
40 | K>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs748207068 CA10206118 |
42 | F>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA411363848 rs1480570400 COSM1033768 |
42 | F>L | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs114524776 CA10206119 |
44 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 48 | R>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1330145884 CA411363909 |
51 | E>G | No |
ClinGen gnomAD |
|
|
rs760610849 CA10206121 |
51 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA411363916 rs1356836287 |
52 | D>A | No |
ClinGen gnomAD |
|
|
CA323555768 rs138724137 |
57 | I>T | No |
ClinGen ESP TOPMed |
|
|
rs1346346021 CA411363961 |
58 | D>E | No |
ClinGen gnomAD |
|
|
rs1279059000 CA411363958 |
58 | D>G | No |
ClinGen gnomAD |
|
|
rs776472812 CA10206123 |
59 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759314537 CA10206124 |
60 | L>F | No |
ClinGen ExAC |
|
|
rs764911197 CA10206125 |
60 | L>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA411363972 rs764911197 |
60 | L>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10206127 rs149349834 |
61 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs763724484 CA10206128 |
61 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1439537696 CA411363977 |
62 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA411363984 rs1250463379 |
63 | L>V | No |
ClinGen gnomAD |
|
|
rs371590566 CA10206132 COSM1033770 |
64 | A>T | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs200425519 CA323555826 |
65 | D>G | No |
ClinGen 1000Genomes gnomAD |
|
| TCGA novel | 66 | D>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA323555838 rs756354553 |
66 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA411364012 rs1307427072 |
67 | I>M | No |
ClinGen gnomAD |
|
|
CA10206134 rs139754230 |
67 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs764109784 CA323555844 |
67 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs553196772 CA10206135 |
68 | D>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1406905253 CA411364036 |
71 | H>Y | No |
ClinGen gnomAD |
|
|
COSM1416002 CA411364048 rs1269270139 |
72 | K>N | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
rs374537194 CA10206137 |
72 | K>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1227610736 CA411364058 |
74 | F>L | No |
ClinGen gnomAD |
|
|
CA10206140 rs776471793 |
79 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA10206139 rs202011885 |
79 | M>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs745651790 CA10206141 |
80 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs1212740082 CA411364101 |
80 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
CA411364100 rs1212740082 |
80 | V>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs143660228 CA10206144 |
84 | T>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA411364126 rs143660228 |
84 | T>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs775239699 CA10206143 |
84 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1373631701 CA411364132 |
85 | A>V | No |
ClinGen TOPMed |
|
|
CA411364134 rs1314632192 |
86 | V>L | No |
ClinGen TOPMed |
|
|
rs1450708009 CA411364143 |
87 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
CA10206147 rs201547425 |
88 | S>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA411364162 rs1386479013 |
90 | V>A | No |
ClinGen gnomAD |
|
|
CA411364158 rs1168493430 |
90 | V>L | No |
ClinGen gnomAD |
|
|
rs766890316 CA10206148 |
92 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA10206149 rs754325930 |
93 | L>F | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 94 | L>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10206152 rs752858557 |
97 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 97 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10206153 rs758605616 |
99 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA411364218 rs1601867981 |
100 | P>A | No |
ClinGen Ensembl |
|
|
rs778035401 CA411364234 |
102 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10206154 rs778035401 |
102 | T>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA411364233 rs778035401 |
102 | T>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747079013 CA10206155 |
103 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs1247471274 CA411364249 |
105 | G>E | No |
ClinGen gnomAD |
|
|
rs1263203045 CA411364255 |
106 | S>N | No |
ClinGen gnomAD |
|
|
CA411364259 rs1355130489 |
106 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1205370612 CA411364265 |
108 | L>M | No |
ClinGen gnomAD |
|
|
CA10206160 rs200805851 |
112 | A>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA10206159 rs200805851 |
112 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1446997257 CA411364296 |
113 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
CA411364297 rs1446997257 |
113 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
CA411364303 rs1269219805 |
114 | Q>R | No |
ClinGen gnomAD |
|
|
CA411364310 rs749166063 |
115 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs749166063 CA10206161 |
115 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs1270407810 CA411364318 |
117 | A>T | No |
ClinGen TOPMed |
|
|
rs774198912 CA10206163 |
121 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs932738564 CA323556019 |
122 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
rs761340876 CA10206164 |
122 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA411364360 rs1455427269 |
124 | S>N | No |
ClinGen gnomAD |
|
|
CA411364369 rs1410742229 |
125 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
rs537732644 CA10206166 |
126 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1454517338 CA411364380 |
127 | S>N | No |
ClinGen gnomAD |
|
|
rs904716679 CA323556036 |
128 | G>S | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 129 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10206167 rs148655812 |
129 | T>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs148655812 CA411364394 |
129 | T>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1326697605 CA411364402 |
131 | E>K | No |
ClinGen gnomAD |
|
|
rs151167916 CA10206169 |
132 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs370134377 CA10206170 |
132 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1189033247 CA411364462 |
139 | Q>R | No |
ClinGen TOPMed |
|
|
rs145585585 CA10206172 |
140 | A>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs182043190 CA10206175 |
141 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA10206173 rs751750988 |
141 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA411364476 rs186819188 |
142 | A>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs750314066 CA10206176 |
142 | A>T | No |
ClinGen ExAC |
|
|
CA10206177 rs186819188 |
142 | A>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA10206180 rs768596928 |
144 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA411364489 rs768596928 |
144 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA10206179 rs749072763 |
144 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
CA411364496 rs1391439199 |
145 | I>T | No |
ClinGen gnomAD |
|
|
rs1212652918 CA411364506 |
147 | P>S | No |
ClinGen TOPMed |
|
|
CA411364514 rs1308539760 |
148 | T>S | No |
ClinGen gnomAD |
|
|
CA10206182 rs747761917 |
149 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs772584922 COSM210936 CA10206184 |
150 | D>N | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA411364532 rs1326084338 |
151 | Q>K | No |
ClinGen gnomAD |
|
|
rs1231585990 CA411364534 |
151 | Q>R | No |
ClinGen gnomAD |
|
|
rs948862325 CA323556134 |
154 | R>K | No |
ClinGen Ensembl |
|
|
CA10206186 rs562755241 |
155 | E>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA10206188 rs191640929 |
156 | D>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1444513475 CA411364576 |
157 | E>K | No |
ClinGen TOPMed |
|
|
rs1336389646 CA411364611 |
161 | A>V | No |
ClinGen TOPMed |
|
|
CA323556154 COSM1033771 rs368078894 |
164 | V>A | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
rs761950647 CA10206192 |
166 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA411364642 rs1181780173 |
166 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs868764071 CA323556165 |
167 | A>V | No |
ClinGen TOPMed |
|
| TCGA novel | 169 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA411364673 rs1406500230 |
171 | I>N | No |
ClinGen TOPMed |
|
|
rs112417158 CA323556166 |
172 | Y>C | No |
ClinGen gnomAD |
|
| TCGA novel | 172 | Y>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs5999923 CA10206193 VAR_053013 |
173 | N>K | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs921286899 CA323556169 |
174 | L>F | No |
ClinGen TOPMed |
|
|
rs184909665 CA10206194 |
177 | T>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA411364728 rs1408750149 |
179 | K>R | No |
ClinGen gnomAD |
|
|
CA10206196 rs780093200 |
181 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA323556196 rs926029006 |
182 | K>R | No |
ClinGen TOPMed |
|
|
CA411364757 rs1222100627 |
183 | K>N | No |
ClinGen TOPMed |
|
|
rs190149914 CA10206199 |
185 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs369107640 CA10206200 |
186 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs192850920 CA10206201 |
186 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs192850920 CA10206202 |
186 | R>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs746500379 CA10206203 |
187 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770447719 CA10206204 |
190 | K>* | No |
ClinGen ExAC gnomAD |
|
|
CA323556224 rs953824475 |
190 | K>R | No |
ClinGen Ensembl |
|
|
CA10206206 rs749797800 |
193 | A>D | No |
ClinGen ExAC gnomAD |
|
|
CA10206205 rs775935414 |
193 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1266413882 CA411364829 |
195 | P>A | No |
ClinGen gnomAD |
|
|
rs200170835 CA10206207 |
196 | R>C | Variant assessed as Somatic; 0.0003234 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs774562457 CA10206208 |
196 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs774562457 CA323556240 |
196 | R>P | No |
ClinGen ExAC gnomAD |
|
|
CA411364837 rs1388318623 |
197 | L>M | No |
ClinGen gnomAD |
|
|
rs1044608188 CA323556244 |
198 | A>T | No |
ClinGen TOPMed |
|
|
rs762282595 CA10206209 |
199 | N>H | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 199 | N>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10206212 rs201496034 |
203 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs773507616 CA10206213 |
203 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs377394530 CA323556273 |
205 | L>P | No |
ClinGen ESP |
|
|
rs748819725 CA323556285 |
206 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1365164143 CA411364900 |
207 | T>I | No |
ClinGen gnomAD |
|
|
rs1294078245 CA411364908 |
209 | Q>* | No |
ClinGen gnomAD |
|
|
CA10206218 rs765286120 |
210 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA411364931 rs1376928938 |
212 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA411364933 rs758262301 |
213 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758262301 CA10206220 |
213 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10206219 rs752403368 |
213 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10206222 rs746692910 |
214 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770840573 CA10206223 |
215 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs200500746 CA10206224 |
215 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA10206226 rs145863080 |
216 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs772520677 CA10206229 |
219 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
CA411364968 rs558213377 |
219 | Q>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA10206230 rs558213377 |
219 | Q>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA411364972 rs1375445121 |
220 | K>E | No |
ClinGen TOPMed |
|
|
CA411364981 rs1318983344 |
221 | A>S | No |
ClinGen gnomAD |
|
|
rs760992573 CA10206232 |
223 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201669216 CA411364998 CA10206234 |
224 | G>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA323556427 rs576893978 |
225 | T>A | No |
ClinGen gnomAD |
|
|
CA411365009 rs1176090140 |
226 | T>A | No |
ClinGen TOPMed |
|
|
CA10206236 rs200520869 |
228 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs996121781 CA323556435 |
229 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
rs540748972 CA323556443 |
230 | T>I | No |
ClinGen 1000Genomes |
|
|
CA411365035 rs540748972 |
230 | T>N | No |
ClinGen 1000Genomes |
|
|
CA10206239 rs763953185 |
231 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA411365040 rs1204211172 |
231 | K>R | No |
ClinGen gnomAD |
|
|
rs751152444 CA10206240 |
234 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA411365059 rs751152444 |
234 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs560610184 CA10206241 |
234 | R>H | Variant assessed as Somatic; 4.621e-05 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs560610184 CA323556462 |
234 | R>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs149179370 CA10206244 |
235 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10206243 rs149179370 |
235 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs143314363 CA10206246 |
237 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1470540049 CA411365075 |
238 | G>S | No |
ClinGen gnomAD |
|
|
CA10206247 rs772269044 |
240 | M>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA411365090 rs772269044 |
240 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA323556484 rs1019237230 |
241 | S>P | No |
ClinGen Ensembl |
|
|
CA10206249 rs141435261 |
242 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA411365114 rs1555923810 |
244 | S>P | No |
ClinGen Ensembl |
|
|
CA323556488 rs1044662290 |
246 | G>S | No |
ClinGen TOPMed |
|
|
CA411365134 rs771248197 |
247 | Y>C | No |
ClinGen ExAC TOPMed |
|
|
rs771248197 CA10206250 |
247 | Y>F | No |
ClinGen ExAC TOPMed |
|
|
CA411365130 rs1172062494 |
247 | Y>N | No |
ClinGen TOPMed |
|
|
rs1223935796 CA411365159 |
251 | T>A | No |
ClinGen gnomAD |
|
|
rs777040698 CA10206253 |
251 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs930875786 CA411365164 |
252 | L>I | No |
ClinGen TOPMed gnomAD |
|
|
rs930875786 CA323556514 |
252 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1208766459 CA411365186 |
255 | E>G | No |
ClinGen gnomAD |
|
|
CA10206254 rs759485812 |
256 | W>R | No |
ClinGen ExAC gnomAD |
|
|
CA10206255 rs769945846 |
257 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA411365209 rs1179552241 |
258 | H>R | No |
ClinGen gnomAD |
|
|
rs1410854656 CA411365213 |
259 | L>M | No |
ClinGen gnomAD |
|
| TCGA novel | 262 | G>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1176759372 CA411365238 |
262 | G>A | No |
ClinGen TOPMed |
|
|
rs775222843 COSM1566464 CA10206256 |
263 | A>T | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
| TCGA novel | 264 | R>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1423636635 CA411365255 |
265 | T>I | No |
ClinGen gnomAD |
|
|
CA323556528 rs764318291 |
268 | A>V | No |
ClinGen gnomAD |
|
| TCGA novel | 269 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA411365292 rs1334373599 |
270 | E>D | No |
ClinGen TOPMed |
|
|
rs373629795 CA10206259 |
270 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA323556540 rs1040131970 |
272 | R>S | No |
ClinGen TOPMed |
|
|
rs1346444421 CA411365305 |
272 | R>T | No |
ClinGen gnomAD |
|
|
CA411365310 rs1322921951 |
273 | A>G | No |
ClinGen TOPMed |
|
|
CA10206261 rs200300305 |
273 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA10206262 rs765700064 |
275 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 276 | L>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs755515085 CA10206263 |
277 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs1218586318 CA411365332 |
277 | E>K | No |
ClinGen gnomAD |
|
|
CA323556556 rs901709638 |
278 | L>P | No |
ClinGen TOPMed |
|
|
rs1343675147 CA411365360 |
281 | K>E | No |
ClinGen gnomAD |
|
|
rs753348072 CA10206265 |
285 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA323556559 rs761196484 CA411365403 |
287 | Q>H | No |
ClinGen TOPMed |
|
|
rs1490417626 CA411365401 |
287 | Q>P | No |
ClinGen gnomAD |
|
|
CA411365441 rs1162537613 |
293 | Q>K | No |
ClinGen TOPMed |
|
|
rs202238569 CA10206266 |
295 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA10206267 rs778464272 |
295 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs747356175 CA10206268 |
296 | V>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200252501 CA10206269 |
297 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1407297168 CA411365479 |
298 | S>L | No |
ClinGen gnomAD |
|
|
rs1366380930 CA411365476 |
298 | S>P | No |
ClinGen TOPMed gnomAD |
|
|
CA10206270 rs143747983 |
299 | R>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs368285618 CA323556584 |
300 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
CA411365502 rs1367326668 |
302 | G>A | No |
ClinGen gnomAD |
|
|
CA411365499 CA411365498 rs1179268747 |
302 | G>R | No |
ClinGen TOPMed |
|
|
CA411365506 rs1273292820 |
303 | V>E | No |
ClinGen TOPMed gnomAD |
|
|
CA10206272 rs564571719 |
303 | V>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA411365543 rs1287379257 |
308 | T>I | No |
ClinGen gnomAD |
|
|
CA10206274 rs368095413 |
309 | G>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA411365545 rs1488998268 |
309 | G>R | No |
ClinGen TOPMed |
|
|
CA10206275 rs768546329 |
310 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA411365552 rs1250396525 |
310 | T>N | No |
ClinGen gnomAD |
|
|
CA10206277 rs370523539 |
311 | C>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA411365561 rs370523539 |
311 | C>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10206278 COSM1416003 rs780403475 |
312 | E>K | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs527259076 CA10206280 |
314 | E>K | Variant assessed as Somatic; 0.000462 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs1161670891 CA411365595 |
316 | Y>* | No |
ClinGen gnomAD |
|
|
rs988836796 CA323556634 |
318 | K>R | No |
ClinGen Ensembl |
|
|
rs753360497 CA10206282 |
324 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs754497563 CA10206283 |
325 | W>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA323556667 rs914633349 |
325 | W>C | No |
ClinGen TOPMed |
|
|
rs764646495 CA10206284 |
326 | M>L | No |
ClinGen ExAC gnomAD |
|
|
CA10206286 rs757629402 |
329 | W>G | No |
ClinGen ExAC |
|
|
rs1601868580 CA411365699 |
331 | C>G | No |
ClinGen Ensembl |
|
| TCGA novel | 332 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs756351017 CA10206291 |
333 | C>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1209711430 CA411365713 |
333 | C>Y | No |
ClinGen gnomAD |
|
|
CA411365719 rs1270418905 |
334 | L>V | No |
ClinGen gnomAD |
|
|
rs780176665 CA10206292 |
335 | C>* | No |
ClinGen ExAC gnomAD |
|
|
CA411365726 rs1569135410 |
335 | C>Y | No |
ClinGen Ensembl |
|
|
rs1569135416 CA411365732 |
336 | V>F | No |
ClinGen Ensembl |
|
|
CA411365741 rs1244362531 |
337 | C>F | No |
ClinGen gnomAD |
|
|
rs1453855077 CA411365736 |
337 | C>S | No |
ClinGen TOPMed |
|
|
CA10206295 rs768758490 |
338 | V>G | No |
ClinGen ExAC gnomAD |
|
|
rs1195699347 CA411365755 |
339 | Y>* | No |
ClinGen TOPMed |
|
|
CA411365753 rs1470652307 |
339 | Y>C | No |
ClinGen gnomAD |
|
|
rs1470652307 CA411365752 |
339 | Y>S | No |
ClinGen gnomAD |
|
|
rs1413889792 CA411365770 |
341 | Q>H | No |
ClinGen gnomAD |
|
|
CA411365776 rs1455505412 |
342 | F>C | No |
ClinGen gnomAD |
|
|
CA10206298 rs567305473 |
343 | T>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA323556798 rs944299421 |
344 | T>C | No |
ClinGen Ensembl |
2 associated diseases with Q9BWW8
[MIM: 619467]: Usmani-Riazuddin syndrome, autosomal dominant (USRISD)
A neurodevelopmental disorder characterized by global developmental delay with impaired intellectual development and speech delay, hypotonia, and behavioral abnormalities. More variable additional features may include seizures and distal limb anomalies. {ECO:0000269|PubMed:34102099}. Note=The disease is caused by variants affecting the gene represented in this entry.
[MIM: 619548]: Usmani-Riazuddin syndrome, autosomal recessive (USRISR)
A neurodevelopmental disorder characterized by global developmental delay with impaired intellectual development and speech delay, hypotonia, spasticity, and behavioral abnormalities. More variable additional features may include seizures, scoliosis, and joint laxity. {ECO:0000269|PubMed:34102099}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- A neurodevelopmental disorder characterized by global developmental delay with impaired intellectual development and speech delay, hypotonia, and behavioral abnormalities. More variable additional features may include seizures and distal limb anomalies. {ECO:0000269|PubMed:34102099}. Note=The disease is caused by variants affecting the gene represented in this entry.
- A neurodevelopmental disorder characterized by global developmental delay with impaired intellectual development and speech delay, hypotonia, spasticity, and behavioral abnormalities. More variable additional features may include seizures, scoliosis, and joint laxity. {ECO:0000269|PubMed:34102099}. Note=The disease is caused by variants affecting the gene represented in this entry.
3 regional properties for Q9BWW8
2 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| extracellular region | The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite. |
1 GO annotations of molecular function
| Name | Definition |
|---|---|
| lipid binding | Binding to a lipid. |
2 GO annotations of biological process
| Name | Definition |
|---|---|
| lipid transport | The directed movement of lipids into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Lipids are compounds soluble in an organic solvent but not, or sparingly, in an aqueous solvent. |
| lipoprotein metabolic process | The chemical reactions and pathways involving any conjugated, water-soluble protein in which the covalently attached nonprotein group consists of a lipid or lipids. |
No homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| No homologous proteins | ||||
| 10 | 20 | 30 | 40 | 50 | 60 |
| MDNQAERESE | AGVGLQRDED | DAPLCEDVEL | QDGDLSPEEK | IFLREFPRLK | EDLKGNIDKL |
| 70 | 80 | 90 | 100 | 110 | 120 |
| RALADDIDKT | HKKFTKANMV | ATSTAVISGV | MSLLGLALAP | ATGGGSLLLS | TAGQGLATAA |
| 130 | 140 | 150 | 160 | 170 | 180 |
| GVTSIVSGTL | ERSKNKEAQA | RAEDILPTYD | QEDREDEEEK | ADYVTAAGKI | IYNLRNTLKY |
| 190 | 200 | 210 | 220 | 230 | 240 |
| AKKNVRAFWK | LRANPRLANA | TKRLLTTGQV | SSRSRVQVQK | AFAGTTLAMT | KNARVLGGVM |
| 250 | 260 | 270 | 280 | 290 | 300 |
| SAFSLGYDLA | TLSKEWKHLK | EGARTKFAEE | LRAKALELER | KLTELTQLYK | SLQQKVRSRA |
| 310 | 320 | 330 | 340 | ||
| RGVGKDLTGT | CETEAYWKEL | REHVWMWLWL | CVCLCVCVYV | QFT |