Q8IUQ0
PR
Gene name |
CLVS1 (CRALBPL, RLBP1L1) |
Protein name |
Clavesin-1 |
Names |
C-type lectin superfamily member 14, Macrophage lectin 2, Cellular retinaldehyde-binding protein-like, Retinaldehyde-binding protein 1-like 1, clathrin vesicle-associated Sec14 protein 1 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:157807 |
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 Q8IUQ0
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q8IUQ0-F1 | Predicted | AlphaFoldDB |
241 variants for Q8IUQ0
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA4761164 rs779670056 |
2 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA178331664 rs867676093 |
5 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs754414771 CA4761166 |
5 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs1563484242 CA371400297 |
7 | L>I | No |
ClinGen Ensembl |
|
|
rs1315037290 CA371400301 |
7 | L>P | No |
ClinGen Ensembl |
|
|
CA178331679 rs202247798 |
8 | P>S | No |
ClinGen Ensembl |
|
|
rs780840731 CA4761167 |
9 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA4761168 rs747753203 |
9 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs866356412 CA178331695 |
13 | L>* | No |
ClinGen Ensembl |
|
|
CA371400351 rs1485992384 |
14 | N>K | No |
ClinGen gnomAD |
|
|
rs769664828 CA4761170 |
15 | T>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769664828 CA371400352 |
15 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 16 | W>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA371400359 rs1371227944 |
16 | W>G | No |
ClinGen gnomAD |
|
|
CA371400358 rs1371227944 |
16 | W>R | No |
ClinGen gnomAD |
|
|
rs1476283016 CA371400367 |
17 | N>D | No |
ClinGen gnomAD |
|
|
CA4761171 rs750795149 |
17 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs770762643 CA4761173 |
18 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA371400398 rs1432471633 |
21 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs377639699 CA4761174 |
22 | K>E | No |
ClinGen ESP ExAC gnomAD |
|
|
rs377639699 CA4761175 |
22 | K>Q | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1318287295 CA371400435 |
27 | Q>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1325152737 CA371400439 |
27 | Q>R | No |
ClinGen gnomAD |
|
|
rs762094349 CA4761178 |
31 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs973490347 CA178331741 |
32 | P>A | No |
ClinGen gnomAD |
|
|
CA371400478 rs765680966 CA4761179 |
33 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766968154 CA178331746 |
33 | E>G | No |
ClinGen Ensembl |
|
|
rs1232356217 CA371400480 |
34 | T>A | No |
ClinGen gnomAD |
|
|
CA371400483 rs750738056 |
34 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs750738056 CA4761180 |
34 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs370764198 CA4761182 |
35 | I>T | No |
ClinGen ESP ExAC TOPMed |
|
|
CA4761181 rs759006982 |
35 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA371400490 rs1204580271 |
36 | E>Q | No |
ClinGen gnomAD |
|
|
CA4761183 rs538889155 |
37 | K>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1298952885 CA371400500 |
37 | K>I | No |
ClinGen gnomAD |
|
|
CA4761184 rs373908809 |
39 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs187032551 COSM3784159 CA4761185 |
39 | R>H | prostate [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
rs377032110 CA4761188 |
40 | L>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM1100920 rs770693777 CA4761190 |
47 | D>N | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs928298993 CA178331844 |
47 | D>V | No |
ClinGen TOPMed gnomAD |
|
|
CA4761191 rs535901986 |
48 | V>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1439077423 CA371400581 |
50 | H>Y | No |
ClinGen gnomAD |
|
|
CA4761194 rs776829272 |
52 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs768896897 COSM1700134 CA371400595 |
52 | D>N | Variant assessed as Somatic; impact. skin [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA4761193 rs768896897 |
52 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1457757 rs375556372 CA178331871 |
55 | Q>R | large_intestine [Cosmic] | No |
ClinGen cosmic curated ESP TOPMed gnomAD |
|
CA371400640 rs1315579700 |
58 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
CA4761195 rs762182128 |
59 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 60 | I>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1194363129 CA371400662 |
61 | I>N | No |
ClinGen Ensembl |
|
|
rs1272395983 CA371400671 |
62 | T>I | No |
ClinGen gnomAD |
|
|
CA178331904 rs756476226 |
63 | R>K | No |
ClinGen TOPMed |
|
|
CA4761198 rs763236302 |
64 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs773413383 CA4761197 COSM319508 |
64 | P>T | lung [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA4761200 rs752095864 |
66 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4761199 rs766720972 |
66 | I>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA4761201 rs368485692 COSM1457758 |
70 | R>C | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
COSM4151538 rs766850570 CA4761202 |
70 | R>H | ovary [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
| TCGA novel | 73 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4761203 rs374411661 |
76 | I>V | No |
ClinGen ESP ExAC gnomAD |
|
|
CA178331939 rs914410607 |
77 | L>M | No |
ClinGen TOPMed |
|
|
rs1394339360 CA371400765 |
77 | L>Q | No |
ClinGen gnomAD |
|
|
CA371400790 rs1460252234 COSM1100921 |
81 | R>* | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs755864413 CA4761204 |
81 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1395576226 CA371400794 |
82 | A>T | No |
ClinGen gnomAD |
|
|
rs1391023626 CA371400813 |
84 | K>N | No |
ClinGen gnomAD |
|
|
rs777295607 CA4761205 |
85 | F>L | No |
ClinGen ExAC |
|
|
rs1361996769 CA371400829 |
87 | Q>E | No |
ClinGen TOPMed |
|
|
rs377746266 CA4761206 |
88 | A>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs778817929 CA4761208 |
89 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs772119216 CA4761210 |
93 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA371400885 rs1585769730 |
95 | A>V | No |
ClinGen Ensembl |
|
|
rs1191060880 CA371400916 |
99 | Q>H | No |
ClinGen gnomAD |
|
|
rs1273578093 CA371400915 |
99 | Q>R | No |
ClinGen gnomAD |
|
|
CA4761211 rs781486942 COSM193656 |
101 | R>C | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA |
|
rs748178917 CA4761212 |
101 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA178332011 rs368305704 |
107 | M>I | No |
ClinGen ESP TOPMed |
|
|
rs201936841 CA4761214 |
107 | M>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1430662031 CA371401004 |
111 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
rs763198625 CA4761215 |
113 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA371401019 rs1563484643 |
114 | D>H | No |
ClinGen Ensembl |
|
|
CA371401043 rs1296695398 |
117 | G>D | No |
ClinGen gnomAD |
|
| TCGA novel | 117 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1398843486 CA371401064 |
120 | R>T | No |
ClinGen gnomAD |
|
|
rs774679935 CA4761217 |
123 | I>N | No |
ClinGen ExAC gnomAD |
|
|
CA4761219 rs768010044 |
124 | D>N | Variant assessed as Somatic; 4.622e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1235050112 CA371401096 |
125 | G>E | No |
ClinGen gnomAD |
|
|
rs1420333604 CA371401095 |
125 | G>W | No |
ClinGen TOPMed |
|
|
rs760117672 CA4761221 |
126 | F>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 127 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA178332038 rs754982582 |
128 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs753472849 CA4761223 |
129 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs1254755181 CA371401159 |
131 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA4761224 rs756911932 |
133 | R>* | Variant assessed as Somatic; 4.628e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1190700549 COSM2720191 CA371401191 |
133 | R>Q | Variant assessed as Somatic; 0.0 impact. pancreas [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs1415103767 CA371401219 |
135 | H>D | No |
ClinGen gnomAD |
|
|
rs778907865 CA371401223 |
135 | H>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778907865 CA4761225 |
135 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs904931973 CA178332069 |
136 | Y>H | No |
ClinGen Ensembl |
|
|
CA4761228 rs780150271 |
137 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4761229 rs746911017 |
138 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs75935799 CA4761231 |
139 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs1313441641 CA371401294 |
140 | I>V | No |
ClinGen gnomAD |
|
|
rs1361128567 CA371401305 |
141 | L>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs894694068 CA178332099 |
142 | L>F | No |
ClinGen Ensembl |
|
|
CA4761232 rs749525043 |
146 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA4761233 rs370877315 |
147 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 148 | W>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 148 | W>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4761249 rs777775384 |
153 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA178386376 rs929249860 |
154 | S>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1262946064 CA371401153 |
156 | T>A | No |
ClinGen gnomAD |
|
|
rs749385524 CA4761250 |
156 | T>K | No |
ClinGen ExAC |
|
|
CA178386385 rs111621113 |
158 | I>V | No |
ClinGen Ensembl |
|
|
CA178386390 rs201928541 |
159 | L>V | No |
ClinGen 1000Genomes |
|
|
CA371401207 rs1465656591 |
160 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs202238473 CA178386395 |
160 | R>H | Variant assessed as Somatic; 4.623e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA4761251 rs202238473 |
160 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1184899663 CA371401308 |
170 | I>F | No |
ClinGen TOPMed |
|
|
rs143211270 CA4761255 COSM107662 |
171 | E>K | Variant assessed as Somatic; 0.0 impact. skin [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA gnomAD |
|
rs912936576 CA178386430 |
172 | D>E | No |
ClinGen Ensembl |
|
|
rs146292772 CA178386433 COSM1100924 |
173 | P>L | Variant assessed as Somatic; 0.0 impact. skin endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP NCI-TCGA gnomAD |
|
CA371401361 rs1323604728 |
174 | E>K | No |
ClinGen gnomAD |
|
| TCGA novel | 178 | N>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4761257 rs539105206 |
181 | I>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA178386436 rs1042696550 |
183 | I>T | No |
ClinGen Ensembl |
|
|
rs1278535232 CA371401511 |
186 | W>* | No |
ClinGen gnomAD |
|
|
rs1585883185 CA371401506 |
186 | W>G | No |
ClinGen Ensembl |
|
|
rs761418218 CA4761259 |
187 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA178386447 rs1011375279 |
188 | N>H | No |
ClinGen TOPMed |
|
|
CA4761260 rs764789489 |
189 | F>V | No |
ClinGen ExAC gnomAD |
|
|
rs1259276677 CA371401536 |
190 | S>P | No |
ClinGen TOPMed |
|
|
CA4761261 rs551078087 |
194 | A>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs766141198 CA4761263 |
198 | T>K | No |
ClinGen ExAC gnomAD |
|
|
CA371401596 rs1294668978 |
199 | P>T | No |
ClinGen TOPMed |
|
| TCGA novel | 200 | S>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA371401612 rs1479709962 |
201 | I>T | No |
ClinGen gnomAD |
|
|
rs1232476310 CA371401609 |
201 | I>V | No |
ClinGen gnomAD |
|
|
CA4761265 rs754940374 |
202 | L>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs534433945 CA4761267 |
205 | A>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA4761268 rs757350983 |
210 | Q>P | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 211 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1483510678 CA371399494 |
216 | R>C | No |
ClinGen TOPMed |
|
|
rs781376219 CA371399495 |
216 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs781376219 CA4761298 |
216 | R>P | No |
ClinGen ExAC gnomAD |
|
|
CA4761300 rs770416103 |
222 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs1563559922 CA371399535 |
222 | F>S | No |
ClinGen Ensembl |
|
|
CA371399538 rs1442905009 |
223 | V>F | No |
ClinGen gnomAD |
|
|
CA4761301 rs370060121 |
224 | N>S | No |
ClinGen ESP ExAC gnomAD |
|
| TCGA novel | 227 | W>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4761302 rs748815223 |
229 | I>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 231 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA371399618 rs1188838747 |
234 | T>S | No |
ClinGen gnomAD |
|
|
CA4761304 rs374404656 |
235 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA371399676 rs1219762010 |
242 | D>E | No |
ClinGen TOPMed |
|
|
CA4761306 rs771942742 |
245 | R>K | No |
ClinGen ExAC gnomAD |
|
|
rs377669144 CA371399708 |
247 | R>P | No |
ClinGen ESP ExAC gnomAD |
|
|
rs377669144 CA4761307 |
247 | R>Q | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1415529470 CA371399707 |
247 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
rs80318453 CA178472506 |
251 | H>N | No |
ClinGen Ensembl |
|
|
CA371399758 rs1459200973 |
253 | N>T | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 256 | N>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs977574348 CA178472512 |
260 | Q>E | No |
ClinGen Ensembl |
|
|
COSM300408 CA4761322 rs778256447 |
261 | L>I | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA371399823 rs1586003244 |
262 | I>T | No |
ClinGen Ensembl |
|
| TCGA novel | 263 | H>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs573440569 CA4761324 |
263 | H>Y | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs775056408 CA4761325 |
264 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1411168887 CA371399848 COSM606037 |
266 | F>V | lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
CA178472518 rs990403599 |
268 | P>T | No |
ClinGen Ensembl |
|
| TCGA novel | 269 | S>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 270 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4761328 rs776578864 |
271 | F>V | No |
ClinGen ExAC gnomAD |
|
|
CA371399908 rs1485815298 |
275 | L>H | No |
ClinGen TOPMed |
|
|
COSM110284 CA178472550 rs139908937 |
277 | P>L | skin [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
CA178472555 rs773898193 |
280 | M>L | No |
ClinGen Ensembl |
|
|
CA4761330 rs766526404 |
280 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs1211273406 CA371399948 |
281 | G>E | No |
ClinGen gnomAD |
|
|
rs948719888 CA178472563 |
282 | T>I | No |
ClinGen TOPMed |
|
|
rs1436750226 CA371399973 |
285 | R>Q | No |
ClinGen gnomAD |
|
|
CA4761332 rs148453129 |
286 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA4761333 rs148453129 |
286 | T>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA371399993 rs1417611137 |
289 | G>S | No |
ClinGen gnomAD |
|
|
CA4761338 rs562615173 |
291 | D>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA4761337 COSM1100932 rs562615173 |
291 | D>N | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA gnomAD |
|
CA371400016 rs1390932852 |
292 | Y>C | No |
ClinGen gnomAD |
|
|
CA371400011 rs1384120318 |
292 | Y>N | No |
ClinGen TOPMed |
|
|
rs1326925567 CA371400022 |
293 | S>N | No |
ClinGen gnomAD |
|
| TCGA novel | 295 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA371400055 rs1391570814 |
297 | D>G | No |
ClinGen TOPMed |
|
| TCGA novel | 297 | D>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs757843779 CA4761341 |
300 | H>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA178472623 rs1006062104 |
302 | S>C | No |
ClinGen Ensembl |
|
|
CA4761344 rs746621064 |
306 | M>L | No |
ClinGen ExAC gnomAD |
|
|
CA4761343 rs746621064 |
306 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs748171979 CA371400128 |
308 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748171979 CA4761346 COSM1755765 |
308 | V>M | urinary_tract [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs1193369258 CA371400138 |
309 | K>R | No |
ClinGen TOPMed |
|
|
rs773137123 CA4761348 |
310 | H>P | No |
ClinGen ExAC gnomAD |
|
|
CA4761347 rs139500383 |
310 | H>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4761349 rs376667750 |
311 | T>M | No |
ClinGen ESP ExAC gnomAD |
|
|
rs775886309 CA371400152 |
312 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs775886309 CA4761351 |
312 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs1167308857 CA371400162 |
313 | S>L | No |
ClinGen TOPMed gnomAD |
|
|
CA371400168 rs1461656531 |
314 | N>I | No |
ClinGen gnomAD |
|
|
CA371400171 rs764603864 |
315 | L>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4761353 rs764603864 |
315 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754141789 CA4761354 |
318 | E>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 318 | E>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 319 | C>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs757573507 CA371400208 |
320 | S>* | No |
ClinGen ExAC gnomAD |
|
|
CA4761355 rs757573507 COSM3779299 |
320 | S>L | Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA371400206 rs1410474562 |
320 | S>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1397610778 CA371400212 |
321 | P>L | No |
ClinGen gnomAD |
|
|
rs765673406 CA4761356 |
321 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA371400223 rs1313156763 |
323 | L>M | No |
ClinGen gnomAD |
|
|
rs1325550733 CA371400232 |
324 | M>T | No |
ClinGen gnomAD |
|
|
CA371400244 rs1224806146 |
325 | K>N | No |
ClinGen gnomAD |
|
|
CA4761413 rs746468729 |
327 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs1329543222 CA371401709 |
330 | V>L | No |
ClinGen TOPMed |
|
|
rs755769564 CA4761415 |
332 | E>A | No |
ClinGen ExAC gnomAD |
|
|
rs777489111 CA4761417 |
334 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs1439719691 CA371401738 |
335 | T>P | No |
ClinGen gnomAD |
|
|
CA4761420 rs779014022 |
337 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA178493729 rs1009417030 |
338 | H>Q | No |
ClinGen Ensembl |
|
|
rs745760518 CA4761422 |
339 | E>A | No |
ClinGen ExAC gnomAD |
|
|
COSM1552924 rs1316816191 CA371401763 |
339 | E>K | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA4761425 COSM1100937 rs781305850 |
340 | E>D | endometrium [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA4761423 rs755052477 |
340 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770048537 CA4761426 |
341 | K>N | No |
ClinGen ExAC |
|
|
CA4761429 rs749669286 |
343 | E>D | No |
ClinGen ExAC |
|
|
rs773352650 CA4761427 |
343 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1245164335 CA371401797 |
344 | N>H | No |
ClinGen gnomAD |
|
|
rs774874264 CA4761430 |
345 | E>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760061357 CA4761432 |
345 | E>D | No |
ClinGen ExAC |
|
|
CA4761433 rs775052625 |
346 | N>T | No |
ClinGen ExAC gnomAD |
|
|
rs763813993 CA4761435 |
347 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA4761434 rs200437363 |
347 | T>P | No |
ClinGen ExAC gnomAD |
|
|
rs757147377 CA4761437 |
348 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
COSM454730 CA371401828 rs1460689188 |
349 | P>A | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs1162282809 CA371401836 |
350 | L>P | No |
ClinGen gnomAD |
No associated diseases with Q8IUQ0
Functions
5 GO annotations of cellular component
| Name | Definition |
|---|---|
| clathrin-coated vesicle | A vesicle with a coat formed of clathrin connected to the membrane via one of the clathrin adaptor complexes. |
| early endosome membrane | The lipid bilayer surrounding an early endosome. |
| endosome | A vacuole to which materials ingested by endocytosis are delivered. |
| trans-Golgi network | The network of interconnected tubular and cisternal structures located within the Golgi apparatus on the side distal to the endoplasmic reticulum, from which secretory vesicles emerge. The trans-Golgi network is important in the later stages of protein secretion where it is thought to play a key role in the sorting and targeting of secreted proteins to the correct destination. |
| trans-Golgi network membrane | The lipid bilayer surrounding any of the compartments that make up the trans-Golgi network. |
2 GO annotations of molecular function
| Name | Definition |
|---|---|
| phosphatidylinositol bisphosphate binding | Binding to phosphatidylinositol bisphosphate. |
| phosphatidylinositol-3,5-bisphosphate binding | Binding to phosphatidylinositol-3,5-bisphosphate, a derivative of phosphatidylinositol in which the inositol ring is phosphorylated at the 3' and 5' positions. |
1 GO annotations of biological process
| Name | Definition |
|---|---|
| lysosome organization | A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of a lysosome. A lysosome is a cytoplasmic, membrane-bounded organelle that is found in most animal cells and that contains a variety of hydrolases. |
26 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q9UDX3 | SEC14L4 | SEC14-like protein 4 | Homo sapiens (Human) | PR |
| Q92503 | SEC14L1 | SEC14-like protein 1 | Homo sapiens (Human) | PR |
| B5MCN3 | SEC14L6 | Putative SEC14-like protein 6 | Homo sapiens (Human) | PR |
| Q9BTX7 | TTPAL | Alpha-tocopherol transfer protein-like | Homo sapiens (Human) | PR |
| Q5SYC1 | CLVS2 | Clavesin-2 | Homo sapiens (Human) | PR |
| Q8R0F9 | Sec14l4 | SEC14-like protein 4 | Mus musculus (Mouse) | PR |
| Q8BG92 | Clvs2 | Clavesin-2 | Mus musculus (Mouse) | PR |
| Q9D3D0 | Ttpal | Alpha-tocopherol transfer protein-like | Mus musculus (Mouse) | PR |
| Q9D4C9 | Clvs1 | Clavesin-1 | Mus musculus (Mouse) | PR |
| A6JUQ6 | Clvs2 | Clavesin-2 | Rattus norvegicus (Rat) | PR |
| A6JFQ6 | Clvs1 | Clavesin-1 | Rattus norvegicus (Rat) | PR |
| Q09270 | C34C12.6 | CRAL-TRIO domain-containing protein C34C12.6 | Caenorhabditis elegans | PR |
| Q56ZI2 | PATL2 | Patellin-2 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q94C59 | PATL4 | Patellin-4 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q56WK6 | PATL1 | Patellin-1 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q56Z59 | PATL3 | Patellin-3 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q8GXC6 | SFH5 | Phosphatidylinositol/phosphatidylcholine transfer protein SFH5 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9SIW3 | SFH7 | Phosphatidylinositol/phosphatidylcholine transfer protein SFH7 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9SI13 | SFH10 | Phosphatidylinositol/phosphatidylcholine transfer protein SFH10 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| F4IHJ0 | SFH8 | Phosphatidylinositol/phosphatidylcholine transfer protein SFH8 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q93ZE9 | SFH3 | Phosphatidylinositol/phosphatidylcholine transfer protein SFH3 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| F4J7S8 | SFH9 | Phosphatidylinositol/phosphatidylcholine transfer protein SFH9 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9M0R2 | PATL5 | Patellin-5 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q94A34 | SFH12 | Phosphatidylinositol/phosphatidylcholine transfer protein SFH12 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| F4JVA6 | SFH6 | Phosphatidylinositol/phosphatidylcholine transfer protein SFH6 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q5SPP0 | clvs2 | Clavesin-2 | Danio rerio (Zebrafish) (Brachydanio rerio) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MGPVSLLPKY | QKLNTWNGDL | AKMTHLQAGL | SPETIEKARL | ELNENPDVLH | QDIQQVRDMI |
| 70 | 80 | 90 | 100 | 110 | 120 |
| ITRPDIGFLR | TDDAFILRFL | RARKFHQADA | FRLLAQYFQY | RQLNLDMFKN | FKADDPGIKR |
| 130 | 140 | 150 | 160 | 170 | 180 |
| ALIDGFPGVL | ENRDHYGRKI | LLLFAANWDQ | SRNSFTDILR | AILLSLEVLI | EDPELQINGF |
| 190 | 200 | 210 | 220 | 230 | 240 |
| ILIIDWSNFS | FKQASKLTPS | ILKLAIEGLQ | DSFPARFGGV | HFVNQPWYIH | ALYTLIKPFL |
| 250 | 260 | 270 | 280 | 290 | 300 |
| KDKTRKRIFL | HGNNLNSLHQ | LIHPEFLPSE | FGGTLPPYDM | GTWARTLLGP | DYSDENDYTH |
| 310 | 320 | 330 | 340 | 350 | |
| TSYNAMHVKH | TSSNLERECS | PKLMKRSQSV | VEAGTLKHEE | KGENENTQPL | LALD |