Q8TBJ4
Gene name |
PLPPR1 |
Protein name |
Phospholipid phosphatase-related protein type 1 |
Names |
Inactive 2-lysophosphatidate phosphatase PLPPR1, Lipid phosphate phosphatase-related protein type 1, Plasticity-related gene 3 protein, PRG-3 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:54886 |
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 Q8TBJ4
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q8TBJ4-F1 | Predicted | AlphaFoldDB |
221 variants for Q8TBJ4
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
| TCGA novel | 1 | M>? | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA374368095 rs1404237527 |
2 | A>T | No |
ClinGen gnomAD |
|
|
rs75832966 CA5160249 |
3 | V>A | No |
ExAC gnomAD ClinGen |
|
|
rs75832966 CA197262535 |
3 | V>G | No |
ClinGen ExAC gnomAD |
|
|
rs1458167241 CA374368102 |
3 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
rs928324444 CA197262536 |
6 | N>D | No |
ClinGen TOPMed |
|
|
CA374368121 rs1588062955 |
6 | N>S | No |
Ensembl ClinGen |
|
|
CA374368130 rs1176842247 |
7 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
CA5160252 rs200860367 |
9 | R>Q | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs41296085 CA5160253 |
12 | S>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA197262537 rs1023937851 |
14 | I>L | No |
Ensembl ClinGen |
|
|
rs747599995 CA5160257 |
16 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
rs146000696 CA5160259 |
18 | I>M | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA374368203 rs1353992366 |
18 | I>T | No |
ClinGen TOPMed |
|
|
CA374368200 rs1301352674 |
18 | I>V | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 21 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1251928208 CA374368241 |
22 | L>F | No |
Ensembl ClinGen |
|
|
rs748916921 CA5160279 |
24 | I>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ExAC gnomAD ClinGen NCI-TCGA |
|
CA5160280 rs770579216 |
25 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs1465004638 CA374368270 |
26 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
TOPMed ClinGen NCI-TCGA |
|
CA5160281 rs778577480 |
28 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs1186319539 CA374368283 |
29 | V>L | No |
ClinGen gnomAD |
|
|
CA374368295 rs1269459646 |
31 | L>F | No |
TOPMed ClinGen |
|
|
rs1406465588 CA374368304 |
32 | A>V | No |
gnomAD ClinGen |
|
| TCGA novel | 37 | C>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA374368339 rs1451048683 |
37 | C>G | No |
TOPMed gnomAD ClinGen |
|
|
CA374368338 rs1451048683 |
37 | C>R | No |
ClinGen TOPMed gnomAD |
|
|
rs568942556 CA5160285 |
37 | C>Y | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs769782936 CA5160286 |
38 | T>S | No |
ExAC gnomAD ClinGen |
|
|
rs1291219087 CA374368370 COSM3786073 |
41 | F>L | pancreas [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
CA374368378 rs1588104643 |
42 | Q>H | No |
ClinGen Ensembl |
|
|
CA374368386 rs1381022673 |
44 | H>D | No |
ClinGen gnomAD |
|
| TCGA novel | 44 | H>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA197271861 rs867093135 |
47 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs117491062 CA197271863 |
52 | D>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs868474605 CA197271862 |
52 | D>N | No |
ClinGen Ensembl |
|
|
rs368320785 CA5160290 |
53 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 58 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5160291 rs759889251 |
58 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA374368489 rs759889251 |
58 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs866810351 CA197271864 |
61 | G>E | No |
ClinGen Ensembl |
|
|
CA374368514 rs1239610230 |
62 | T>A | No |
ClinGen gnomAD |
|
| TCGA novel | 62 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA374368569 rs1564022795 |
69 | T>N | No |
ClinGen Ensembl |
|
|
CA374368579 rs763545864 |
71 | L>V | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA5160296 rs753323821 |
72 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5160297 rs756874307 |
73 | L>F | No |
ExAC gnomAD ClinGen |
|
|
rs778618938 CA5160298 |
74 | Y>C | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs778618938 CA374368597 |
74 | Y>F | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 75 | C>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1310652122 CA374368620 |
78 | A>P | No |
ClinGen gnomAD |
|
| TCGA novel | 78 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs372236848 CA5160299 |
79 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs754637630 CA5160301 |
82 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746971581 CA5160302 |
82 | T>I | No |
ExAC gnomAD ClinGen |
|
|
rs1256151072 CA374368646 |
83 | A>T | No |
ClinGen TOPMed |
|
|
rs768569090 CA5160303 |
84 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA5160322 rs758081307 |
87 | I>F | No |
ClinGen ExAC gnomAD |
|
|
CA374368689 rs758081307 |
87 | I>L | No |
ExAC gnomAD ClinGen |
|
|
rs1436874410 CA374368695 |
88 | G>R | No |
ClinGen TOPMed |
|
|
rs1166917256 CA374368716 |
91 | S>P | No |
ClinGen TOPMed gnomAD |
|
|
CA374368715 rs1166917256 |
91 | S>T | No |
TOPMed gnomAD ClinGen |
|
|
rs1588111198 CA374368724 |
92 | M>T | No |
Ensembl ClinGen |
|
|
CA197273561 rs201250597 |
92 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
rs201289914 CA5160324 |
95 | I>V | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs754925689 CA5160325 |
98 | T>A | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs781184153 CA5160326 |
99 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA197273564 rs866615719 |
101 | S>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA374368787 rs866615719 |
101 | S>Y | No |
ClinGen gnomAD |
|
| TCGA novel | 103 | I>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs774363945 CA5160329 |
103 | I>T | No |
ExAC gnomAD ClinGen |
|
|
CA374368800 rs1219699759 |
104 | A>T | No |
gnomAD ClinGen |
|
|
CA374368811 rs1333350599 |
105 | Q>R | No |
gnomAD ClinGen |
|
|
CA197273565 rs370046405 |
108 | T>I | No |
ESP TOPMed ClinGen |
|
|
CA374368836 rs1212081542 |
109 | I>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
gnomAD ClinGen NCI-TCGA |
|
rs772217528 CA5160331 |
109 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5160332 rs775845832 |
110 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA5160334 rs769113387 |
112 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs1260639911 CA374368851 |
112 | G>R | No |
ClinGen gnomAD |
|
| TCGA novel | 113 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA197273567 rs868578200 |
119 | P>L | No |
Ensembl ClinGen |
|
|
rs1588111267 CA374368901 |
119 | P>T | No |
Ensembl ClinGen |
|
|
CA374368910 rs1276194344 |
120 | L>S | No |
ClinGen gnomAD |
|
|
rs1443413009 CA374368915 |
121 | L>F | No |
TOPMed ClinGen |
|
|
CA197273568 rs924333774 |
122 | R>Q | No |
gnomAD ClinGen |
|
|
CA374368929 rs1400238835 |
123 | R>S | No |
ClinGen gnomAD |
|
|
CA374368942 rs1362751037 |
125 | I>M | No |
ClinGen gnomAD |
|
|
rs761281978 CA5160336 COSM752277 |
125 | I>V | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ExAC TOPMed gnomAD ClinGen cosmic curated NCI-TCGA |
|
rs764865317 CA5160337 |
127 | F>S | No |
ExAC gnomAD ClinGen |
|
|
rs767375015 CA5160361 |
130 | V>L | No |
ExAC gnomAD ClinGen |
|
|
CA5160362 rs752369015 |
132 | A>T | No |
ExAC gnomAD ClinGen |
|
|
rs1400457456 CA374368999 |
132 | A>V | No |
ClinGen gnomAD |
|
|
rs1564033853 CA374369017 |
135 | L>H | No |
ClinGen Ensembl |
|
|
CA5160363 rs375650714 |
135 | L>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5160364 rs777674634 |
137 | A>T | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA5160365 rs750570003 |
140 | I>V | No |
ExAC gnomAD ClinGen |
|
|
CA5160367 rs374506978 |
144 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 144 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 145 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs975934254 CA197276248 |
147 | V>A | No |
ClinGen Ensembl |
|
|
CA374369102 rs1564033868 |
148 | V>A | No |
Ensembl ClinGen |
|
|
CA5160369 rs149405756 |
148 | V>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA374369119 rs1393379158 |
151 | H>P | No |
TOPMed ClinGen |
|
|
CA374369118 rs1173532569 |
151 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA374369148 rs1378260774 |
155 | Y>F | No |
gnomAD ClinGen |
|
|
rs773821062 CA5160373 |
161 | K>* | No |
ClinGen ExAC |
|
|
CA5160374 rs150814920 |
162 | P>L | No |
ESP ExAC gnomAD ClinGen |
|
|
rs1283268204 CA374369193 |
162 | P>S | No |
ClinGen Ensembl |
|
|
rs773692925 CA5160376 |
163 | N>D | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs759232206 CA5160377 |
164 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs767021755 CA5160378 |
165 | T>P | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA5160379 rs775413062 |
165 | T>S | No |
ExAC gnomAD ClinGen |
|
|
rs760459469 CA5160380 |
166 | S>R | No |
ExAC gnomAD ClinGen |
|
|
CA197276251 rs3209400 |
170 | Q>* | No |
Ensembl ClinGen |
|
|
rs764061295 CA5160381 |
171 | A>V | No |
ExAC gnomAD ClinGen |
|
|
rs1364632590 CA374369261 |
172 | H>Q | No |
ClinGen TOPMed |
|
|
rs1193151487 CA374369265 |
173 | H>Y | No |
gnomAD ClinGen |
|
|
CA5160384 rs530545562 |
174 | Q>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
COSM218967 rs751532084 CA5160385 |
178 | N>S | pancreas [Cosmic] | No |
ExAC gnomAD ClinGen cosmic curated |
|
rs1452979767 CA374369311 |
179 | G>E | No |
ClinGen TOPMed |
|
|
rs998355165 CA197276252 |
180 | N>I | No |
ClinGen TOPMed |
|
| TCGA novel | 180 | N>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 182 | C>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1401739536 CA374369352 |
185 | D>G | No |
ClinGen gnomAD |
|
|
rs768378346 CA197276253 COSM1458948 |
186 | L>M | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
Ensembl ClinGen cosmic curated NCI-TCGA |
|
CA374369360 rs1282708268 |
187 | E>K | No |
ClinGen TOPMed |
|
|
rs756644661 CA197276254 |
188 | V>M | No |
Ensembl ClinGen |
|
|
CA374369377 rs1204069043 |
189 | I>T | No |
ClinGen TOPMed |
|
|
CA374369373 rs1461331206 |
189 | I>V | No |
gnomAD ClinGen |
|
|
rs1388171428 CA374369403 |
193 | R>Q | No |
gnomAD ClinGen |
|
|
CA5160389 rs571135401 |
193 | R>W | No |
1000Genomes ExAC TOPMed gnomAD ClinGen |
|
|
CA374369455 rs1318531360 |
201 | A>T | No |
gnomAD ClinGen |
|
|
rs1263782200 CA374369501 |
208 | A>T | No |
ClinGen gnomAD |
|
|
rs1489535473 CA374369507 |
209 | L>I | No |
TOPMed gnomAD ClinGen |
|
|
rs771824283 CA5160395 |
211 | A>V | No |
ExAC gnomAD ClinGen |
|
|
CA5160396 rs774975567 |
212 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA197276636 rs754779962 |
213 | M>I | No |
gnomAD ClinGen |
|
|
rs1300855496 CA374369572 |
216 | T>I | No |
ClinGen gnomAD |
|
|
rs1381272188 CA374369582 |
218 | T>A | No |
ClinGen gnomAD |
|
|
CA374369593 rs1308667603 |
219 | I>M | No |
ClinGen gnomAD |
|
|
rs1228752245 CA374369591 |
219 | I>T | No |
gnomAD ClinGen |
|
|
CA5160415 rs200667385 |
221 | T>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ESP ExAC TOPMed gnomAD ClinGen NCI-TCGA |
|
CA5160414 rs200667385 |
221 | T>M | Variant assessed as Somatic; 4.628e-05 impact. [NCI-TCGA] | No |
ESP ExAC TOPMed gnomAD ClinGen NCI-TCGA |
|
CA5160418 rs147722670 |
223 | S>N | No |
ClinGen ESP ExAC gnomAD |
|
|
CA374369624 rs1231232340 |
224 | S>N | No |
ClinGen TOPMed |
|
|
CA5160419 rs776464922 |
225 | R>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ExAC gnomAD ClinGen NCI-TCGA |
|
CA374369630 rs1208537784 |
225 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
gnomAD ClinGen NCI-TCGA |
|
rs1588122894 CA374369639 |
227 | A>P | No |
Ensembl ClinGen |
|
|
CA5160421 rs769808567 |
227 | A>V | No |
ExAC gnomAD ClinGen |
|
|
CA374369661 rs1178515380 |
230 | V>A | No |
ClinGen gnomAD |
|
|
rs1159925949 CA374369679 |
233 | L>H | No |
ClinGen gnomAD |
|
|
CA197276639 rs201352342 |
234 | G>R | No |
ClinGen Ensembl |
|
|
rs1413492552 CA374369692 |
235 | T>S | No |
gnomAD ClinGen |
|
|
rs760990429 CA5160426 |
236 | L>F | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs760990429 CA374369694 |
236 | L>V | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs1316439434 CA374369699 |
237 | C>G | No |
TOPMed ClinGen |
|
| TCGA novel | 238 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA374369706 rs1360638794 |
238 | T>P | No |
gnomAD ClinGen |
|
|
CA5160427 rs189030340 |
240 | F>L | No |
1000Genomes ExAC TOPMed gnomAD ClinGen |
|
|
rs1321150074 CA374369739 |
243 | G>A | No |
ClinGen TOPMed |
|
| TCGA novel | 243 | G>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs750918337 CA5160431 |
246 | R>Q | No |
ExAC gnomAD ClinGen |
|
|
rs367663778 CA5160430 |
246 | R>W | No |
ESP ExAC gnomAD ClinGen |
|
|
rs1330958739 CA374369759 |
247 | V>I | No |
TOPMed gnomAD ClinGen |
|
|
rs746467901 CA374369775 |
249 | E>G | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA374369771 rs1281208258 |
249 | E>K | No |
ClinGen gnomAD |
|
|
rs746467901 CA5160434 |
249 | E>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5160435 rs768359809 |
250 | Y>C | No |
ExAC gnomAD ClinGen |
|
|
rs371486478 CA197276640 |
251 | R>Q | No |
ClinGen ESP |
|
|
CA5160436 rs780787669 |
251 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5160438 rs769495669 |
255 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1189046666 CA374369826 |
257 | V>L | No |
ClinGen gnomAD |
|
|
CA5160441 rs199633082 |
260 | G>C | No |
1000Genomes ExAC gnomAD ClinGen |
|
|
CA374369844 rs199633082 |
260 | G>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA374369864 rs1234856864 |
263 | L>M | No |
ClinGen TOPMed |
|
|
rs1169692729 CA374369881 |
266 | A>T | No |
gnomAD ClinGen |
|
|
CA5160443 rs760832752 |
269 | L>M | No |
ExAC gnomAD ClinGen |
|
|
CA374248445 rs1307147972 |
272 | G>E | No |
TOPMed ClinGen |
|
|
rs777477569 CA5160477 |
273 | M>I | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA5160475 rs752191646 |
273 | M>L | No |
ExAC gnomAD ClinGen |
|
|
CA5160476 rs755780295 |
273 | M>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 274 | C>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1368406232 CA374248501 |
277 | H>R | No |
ClinGen TOPMed |
|
|
rs1324816491 CA374248555 |
281 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA5160479 rs757098094 |
281 | G>R | No |
ExAC gnomAD ClinGen |
|
|
rs778803378 CA5160480 COSM1103296 |
282 | T>M | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ExAC gnomAD ClinGen cosmic curated NCI-TCGA |
|
CA5160482 rs372382236 |
283 | Q>R | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA196919449 rs866065187 |
284 | G>E | No |
ClinGen Ensembl |
|
|
CA374248595 rs1419348572 |
285 | S>T | No |
gnomAD ClinGen |
|
|
rs1296631806 CA374248626 |
288 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
CA374248639 rs376477018 |
289 | P>S | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA5160484 rs376477018 |
289 | P>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ESP ExAC TOPMed gnomAD ClinGen NCI-TCGA |
| TCGA novel | 292 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1333911204 CA374248673 |
292 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1045674628 CA196919510 |
293 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1031778448 CA196919486 |
293 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1238762922 CA374248701 |
294 | P>H | No |
gnomAD ClinGen |
|
|
rs371399190 CA5160486 |
294 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ESP ExAC TOPMed gnomAD ClinGen NCI-TCGA |
|
rs371399190 CA5160487 |
294 | P>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs200604503 CA5160488 |
295 | R>C | Variant assessed as Somatic; 4.62e-05 impact. [NCI-TCGA] | No |
1000Genomes ExAC TOPMed gnomAD ClinGen NCI-TCGA |
|
rs41274977 CA5160489 |
295 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs760048467 CA5160490 |
296 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA374248731 rs1440658982 |
297 | V>E | No |
ClinGen gnomAD |
|
|
CA5160492 rs752215412 |
298 | P>L | No |
ExAC gnomAD ClinGen |
|
|
rs768054227 CA5160491 |
298 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1156932528 CA374248761 |
300 | M>T | No |
gnomAD ClinGen |
|
|
CA196919620 rs758925822 |
301 | A>D | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA196919608 rs866850807 |
301 | A>T | No |
ClinGen gnomAD |
|
|
rs377300989 CA5160493 |
308 | P>S | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA374248881 rs1172368348 |
311 | T>P | No |
gnomAD ClinGen |
|
|
rs1234596135 CA374248894 |
312 | L>V | No |
TOPMed ClinGen |
|
|
CA374248925 rs1400467866 |
314 | A>V | No |
TOPMed gnomAD ClinGen |
|
|
rs749513889 CA5160504 |
317 | H>Q | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs771081264 CA5160505 |
318 | S>F | No |
ExAC gnomAD ClinGen |
|
|
CA5160506 rs140912404 |
319 | A>V | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
| TCGA novel | 320 | S>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5160508 rs772495204 |
321 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA5160509 rs776044397 |
322 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA374249735 rs1225180391 |
323 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
COSM1319675 CA374249768 rs1355089096 |
325 | T>I | Variant assessed as Somatic; impact. haematopoietic_and_lymphoid_tissue [NCI-TCGA, Cosmic] | No |
TOPMed ClinGen cosmic curated NCI-TCGA |
|
rs1283626316 CA374249772 |
326 | T>R | No |
gnomAD ClinGen |
No associated diseases with Q8TBJ4
1 regional properties for Q8TBJ4
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Phosphatidic acid phosphatase type 2/haloperoxidase | 128 - 274 | IPR000326 |
4 GO annotations of cellular component
| Name | Definition |
|---|---|
| integral component of plasma membrane | The component of the plasma membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane. |
| neuron projection | A prolongation or process extending from a nerve cell, e.g. an axon or dendrite. |
| nucleoplasm | That part of the nuclear content other than the chromosomes or the nucleolus. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
2 GO annotations of molecular function
| Name | Definition |
|---|---|
| lipid phosphatase activity | Catalysis of the reaction: a phospholipid + H2O = a lipid + phosphate. |
| phosphatidate phosphatase activity | Catalysis of the reaction: a 1,2-diacylglycerol 3-phosphate + H2O = a 1,2-diacyl-sn-glycerol + phosphate. |
4 GO annotations of biological process
| Name | Definition |
|---|---|
| nervous system development | The process whose specific outcome is the progression of nervous tissue over time, from its formation to its mature state. |
| phospholipid dephosphorylation | The process of removing one or more phosphate groups from a phosphorylated lipid, any member of a group of substances soluble in lipid solvents but only sparingly soluble in aqueous solvents. |
| phospholipid metabolic process | The chemical reactions and pathways involving phospholipids, any lipid containing phosphoric acid as a mono- or diester. |
| signal transduction | The cellular process in which a signal is conveyed to trigger a change in the activity or state of a cell. Signal transduction begins with reception of a signal (e.g. a ligand binding to a receptor or receptor activation by a stimulus such as light), or for signal transduction in the absence of ligand, signal-withdrawal or the activity of a constitutively active receptor. Signal transduction ends with regulation of a downstream cellular process, e.g. regulation of transcription or regulation of a metabolic process. Signal transduction covers signaling from receptors located on the surface of the cell and signaling via molecules located within the cell. For signaling between cells, signal transduction is restricted to events at and within the receiving cell. |
7 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| O14495 | PLPP3 | Phospholipid phosphatase 3 | Homo sapiens (Human) | PR |
| Q99JY8 | Plpp3 | Phospholipid phosphatase 3 | Mus musculus (Mouse) | PR |
| Q8BFZ2 | Plppr1 | Phospholipid phosphatase-related protein type 1 | Mus musculus (Mouse) | PR |
| P97544 | Plpp3 | Phospholipid phosphatase 3 | Rattus norvegicus (Rat) | PR |
| Q6WAY2 | Plppr1 | Phospholipid phosphatase-related protein type 1 | Rattus norvegicus (Rat) | PR |
| A4II83 | plppr1 | Phospholipid phosphatase-related protein type 1 | Xenopus tropicalis (Western clawed frog) (Silurana tropicalis) | PR |
| Q6IQH6 | plppr1 | Phospholipid phosphatase-related protein type 1 | Danio rerio (Zebrafish) (Brachydanio rerio) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MAVGNNTQRS | YSIIPCFIFV | ELVIMAGTVL | LAYYFECTDT | FQVHIQGFFC | QDGDLMKPYP |
| 70 | 80 | 90 | 100 | 110 | 120 |
| GTEEESFITP | LVLYCVLAAT | PTAIIFIGEI | SMYFIKSTRE | SLIAQEKTIL | TGECCYLNPL |
| 130 | 140 | 150 | 160 | 170 | 180 |
| LRRIIRFTGV | FAFGLFATDI | FVNAGQVVTG | HLTPYFLTVC | KPNYTSADCQ | AHHQFINNGN |
| 190 | 200 | 210 | 220 | 230 | 240 |
| ICTGDLEVIE | KARRSFPSKH | AALSIYSALY | ATMYITSTIK | TKSSRLAKPV | LCLGTLCTAF |
| 250 | 260 | 270 | 280 | 290 | 300 |
| LTGLNRVSEY | RNHCSDVIAG | FILGTAVALF | LGMCVVHNFK | GTQGSPSKPK | PEDPRGVPLM |
| 310 | 320 | ||||
| AFPRIESPLE | TLSAQNHSAS | MTEVT |