Q8WUD6
PR
Gene name |
CHPT1 |
Protein name |
Cholinephosphotransferase 1 |
Names |
hCPT1, AAPT1-like protein, Diacylglycerol cholinephosphotransferase 1 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:56994 |
EC number |
2.7.8.2: Transferases for other substituted phosphate groups |
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 Q8WUD6
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q8WUD6-F1 | Predicted | AlphaFoldDB |
322 variants for Q8WUD6
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs1242826929 CA386283727 |
6 | G>V | No |
ClinGen TOPMed |
|
|
CA386283729 rs1219368216 |
7 | A>P | No |
ClinGen TOPMed |
|
|
CA242440006 rs953382513 |
8 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
rs980596608 CA242440018 |
9 | S>A | No |
ClinGen TOPMed gnomAD |
|
|
rs369656027 CA6745452 |
9 | S>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA242440051 rs973213173 |
11 | P>A | No |
ClinGen TOPMed |
|
|
CA386283752 rs751187599 |
11 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751187599 CA6745453 |
11 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386283757 rs1190714646 |
12 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
rs931297110 CA242440069 |
12 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1428166437 CA386283766 |
13 | W>C | No |
ClinGen TOPMed |
|
|
CA386283781 rs755874310 |
16 | A>E | No |
ClinGen ExAC gnomAD |
|
|
rs752439615 CA6745457 |
16 | A>S | No |
ClinGen ExAC |
|
|
CA6745458 rs755874310 |
16 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA386283788 rs1594117329 |
18 | S>G | No |
ClinGen Ensembl |
|
|
CA6745459 rs777698148 |
19 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386283796 rs777698148 |
19 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA242440101 rs937567147 |
20 | P>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA386283804 rs562246323 |
20 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs562246323 CA242440094 |
20 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
rs780322159 CA6745462 |
22 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs747116974 CA6745463 |
22 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA386283829 rs1264340786 |
24 | A>G | No |
ClinGen gnomAD |
|
|
rs1307722414 CA386283824 |
24 | A>T | No |
ClinGen TOPMed |
|
|
rs1268728880 CA386283845 |
27 | R>Q | No |
ClinGen gnomAD |
|
|
rs1483032283 CA386283852 |
28 | R>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA386283850 rs1483032283 |
28 | R>Q | No |
ClinGen gnomAD |
|
|
CA6745466 rs748482566 |
31 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748482566 CA242440142 |
31 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386283877 rs1388499249 |
32 | H>P | No |
ClinGen TOPMed |
|
|
rs1459551927 CA386283882 |
33 | R>C | No |
ClinGen gnomAD |
|
|
CA6745469 rs763416998 |
34 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA6745470 rs201923549 |
37 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA386283964 rs1594117434 |
39 | V>G | No |
ClinGen Ensembl |
|
|
CA386283975 rs200222128 |
40 | S>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200222128 CA6745471 |
40 | S>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs371577398 CA6745473 |
43 | E>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs752349665 CA6745474 |
45 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6745475 rs369190617 |
49 | Y>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 49 | Y>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs763851847 CA6745476 |
50 | W>G | No |
ClinGen ExAC |
|
|
rs373517414 CA6745478 |
53 | L>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA242440259 rs143123980 |
60 | W>C | No |
ClinGen ESP gnomAD |
|
|
rs779016155 CA6745479 |
60 | W>G | No |
ClinGen ExAC gnomAD |
|
|
rs751636893 CA6745480 |
62 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1425814754 CA386284310 |
62 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs781562946 CA6745482 |
63 | P>L | No |
ClinGen ExAC |
|
|
CA386284311 rs1389646826 |
63 | P>S | No |
ClinGen gnomAD |
|
|
rs1389646826 CA386284313 |
63 | P>T | No |
ClinGen gnomAD |
|
|
CA6745484 rs148254372 |
64 | N>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 64 | N>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA386284324 rs1594117517 |
65 | S>P | No |
ClinGen Ensembl |
|
|
CA6745486 rs749691045 |
66 | I>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6745485 rs778035915 |
66 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386284351 rs1302071991 |
67 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA386284342 rs1271757889 |
67 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1376432877 CA386284356 |
68 | L>V | No |
ClinGen gnomAD |
|
|
rs537919354 CA6745487 |
69 | L>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs758979498 CA6745489 |
70 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs201821258 CA6745488 |
70 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA386284382 rs201821258 |
70 | G>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA386284412 rs1226540663 |
72 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
CA6745491 rs775193490 |
73 | V>F | No |
ClinGen ExAC gnomAD |
|
|
CA386284426 rs775193490 |
73 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA6745492 rs760287232 |
74 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA386284448 rs1566033172 |
74 | N>Y | No |
ClinGen Ensembl |
|
|
CA242440389 rs369508471 COSM1666211 |
75 | V>M | eye [Cosmic] | No |
ClinGen cosmic curated ESP gnomAD |
|
rs1468449281 CA386284487 |
76 | V>A | No |
ClinGen TOPMed |
|
|
rs763840656 CA6745493 |
78 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763840656 CA242440399 |
78 | T>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1362553190 CA386284546 |
80 | V>L | No |
ClinGen TOPMed |
|
|
rs765204489 CA6745496 |
81 | L>F | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 84 | Y>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1391891438 CA386284612 |
84 | Y>H | No |
ClinGen gnomAD |
|
|
CA386284635 rs1277143384 |
85 | C>S | No |
ClinGen gnomAD |
|
|
rs755098314 CA6745499 |
86 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386284655 rs1181801171 |
86 | P>S | No |
ClinGen TOPMed |
|
|
rs141771500 CA6745500 |
87 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1194474533 CA386284705 |
89 | T>I | No |
ClinGen gnomAD |
|
|
CA6745502 rs756247419 |
90 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 92 | A>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA386285398 rs1285035944 |
92 | A>V | No |
ClinGen gnomAD |
|
|
CA386285411 rs1205595016 |
94 | Y>* | No |
ClinGen TOPMed |
|
|
rs764155049 CA6745521 |
94 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754155885 CA6745522 |
95 | W>C | No |
ClinGen ExAC gnomAD |
|
|
rs1244859959 CA386285421 |
96 | T>A | No |
ClinGen gnomAD |
|
|
CA6745523 rs757602664 |
97 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
rs1410974804 CA386285442 |
99 | L>S | No |
ClinGen gnomAD |
|
|
rs1161011483 CA386285459 |
101 | A>V | No |
ClinGen gnomAD |
|
|
CA242454956 rs905296227 |
102 | L>P | No |
ClinGen gnomAD |
|
| TCGA novel | 105 | F>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs936721983 CA242454980 |
108 | Q>H | No |
ClinGen Ensembl |
|
|
rs1041692922 CA242455002 |
110 | L>Q | No |
ClinGen TOPMed |
|
|
CA6745529 rs746437905 |
111 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1280405020 CA386285532 |
113 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
rs139817057 CA6745530 |
113 | I>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs747854303 CA6745532 |
114 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA6745531 rs776138949 |
114 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
CA6745534 rs145525387 |
115 | G>A | No |
ClinGen ESP ExAC TOPMed |
|
|
CA386285562 rs1363055628 |
118 | A>T | No |
ClinGen TOPMed |
|
|
CA6745535 rs762860722 |
120 | R>K | No |
ClinGen ExAC |
|
|
rs1383230591 CA386285586 |
121 | T>I | No |
ClinGen TOPMed |
|
|
CA386285591 rs1387742434 |
122 | N>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1223211798 CA386285599 COSM3792101 |
123 | S>F | Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA386285603 rs1250796377 |
124 | C>G | No |
ClinGen gnomAD |
|
| TCGA novel | 124 | C>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1183508481 CA386285620 |
126 | P>L | No |
ClinGen gnomAD |
|
|
CA242455031 rs1050255205 |
130 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1472281593 CA386285646 |
130 | L>R | No |
ClinGen gnomAD |
|
|
rs774346007 CA6745537 |
131 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs138138543 CA6745538 |
132 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA386285665 rs1425838138 |
133 | H>R | No |
ClinGen gnomAD |
|
|
rs866895258 CA242455049 |
134 | G>V | No |
ClinGen gnomAD |
|
|
rs1369068554 CA386285677 |
135 | C>Y | No |
ClinGen gnomAD |
|
|
CA6745540 rs189684574 |
137 | S>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA6745539 rs373662146 |
137 | S>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| rs1020181240 | 140 | T>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs757509848 CA6745542 |
140 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6745541 rs757509848 |
140 | T>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759565312 CA6745558 |
143 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA242455340 rs777286163 |
143 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
CA386285788 rs1434403932 |
144 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA386285806 rs1455340733 |
145 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
CA242455363 rs892982094 |
149 | I>T | No |
ClinGen Ensembl |
|
|
rs1344081211 CA386285873 |
150 | A>D | No |
ClinGen gnomAD |
|
|
rs1270540996 CA386285867 |
150 | A>T | No |
ClinGen gnomAD |
|
| TCGA novel | 150 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs543648062 CA6745565 |
151 | A>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs543648062 CA6745564 |
151 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1461512444 CA386285885 |
152 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
rs910416069 CA242455381 |
152 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
CA386285917 rs1245680490 |
155 | T>A | No |
ClinGen gnomAD |
|
|
CA6745569 rs755474481 |
159 | W>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed |
|
rs770585413 CA242455394 |
159 | W>R | No |
ClinGen Ensembl |
|
|
rs1456527428 CA386285976 |
160 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1456527428 CA386285977 |
160 | F>V | No |
ClinGen TOPMed gnomAD |
|
|
rs79249537 CA6745570 |
161 | F>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1205415507 CA386286002 |
162 | F>L | No |
ClinGen TOPMed |
|
| rs755424899 | 162 | F>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
VAR_032612 rs3205421 CA6745571 |
162 | F>S | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA386286024 rs1179060337 |
163 | C>F | No |
ClinGen gnomAD |
|
| rs755424899 | 163 | C>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1318560812 CA386286037 |
164 | S>C | No |
ClinGen gnomAD |
|
|
CA386286039 rs1318560812 |
164 | S>F | No |
ClinGen gnomAD |
|
|
rs1456923406 CA386286031 |
164 | S>P | No |
ClinGen gnomAD |
|
|
CA6745572 rs755686565 |
168 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755686565 CA386286078 |
168 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA242455434 rs1017990978 |
171 | F>L | No |
ClinGen gnomAD |
|
|
CA6745574 rs749005591 |
174 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749005591 CA6745575 |
174 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1227464324 CA386286166 |
175 | H>R | No |
ClinGen gnomAD |
|
|
rs778806960 CA6745576 |
175 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs745679952 CA6745577 |
176 | W>* | No |
ClinGen ExAC gnomAD |
|
|
CA386286181 rs1265690717 |
176 | W>S | No |
ClinGen gnomAD |
|
|
CA386286192 rs1227093743 |
177 | Q>* | No |
ClinGen TOPMed |
|
|
CA386286217 rs1221578884 |
180 | V>A | No |
ClinGen Ensembl |
|
|
CA386286219 rs1330608510 |
181 | S>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1285178272 CA6745580 |
183 | M>V | No |
ClinGen Ensembl |
|
|
rs531839493 CA242455469 |
184 | L>V | No |
ClinGen gnomAD |
|
|
rs1037375264 CA242456760 |
190 | D>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA386286412 rs1365941585 |
191 | V>I | No |
ClinGen gnomAD |
|
|
rs1428811570 CA386286418 |
192 | T>A | No |
ClinGen gnomAD |
|
|
rs749353294 CA6745602 |
192 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6745603 rs771123242 |
194 | I>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774438855 CA6745604 |
197 | A>D | No |
ClinGen ExAC gnomAD |
|
|
rs959247964 CA242456774 |
201 | V>G | No |
ClinGen Ensembl |
|
|
rs759936738 CA6745605 |
202 | F>I | No |
ClinGen ExAC gnomAD |
|
|
rs759936738 CA386286482 |
202 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA386286501 rs139763457 |
204 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA386286505 rs1248955549 |
205 | S>Y | No |
ClinGen gnomAD |
|
|
CA386286522 rs1194301348 |
208 | G>* | No |
ClinGen TOPMed |
|
|
CA386286523 rs1194301348 |
208 | G>R | No |
ClinGen TOPMed |
|
|
CA386286536 rs369936908 |
210 | A>E | No |
ClinGen ESP ExAC gnomAD |
|
|
CA242456781 rs149385670 |
210 | A>P | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA6745608 rs369936908 |
210 | A>V | No |
ClinGen ESP ExAC gnomAD |
|
|
CA6745611 rs764728188 |
211 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs756725928 CA6745613 |
212 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753338365 CA6745612 |
212 | M>V | No |
ClinGen ExAC gnomAD |
|
|
COSM3703809 CA6745614 rs764940198 |
216 | T>M | liver [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA6745646 rs772370561 |
217 | I>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386286592 rs772370561 |
217 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs560783909 CA242459253 |
220 | L>V | No |
ClinGen 1000Genomes TOPMed |
|
|
CA242459260 rs953925568 |
222 | I>K | No |
ClinGen TOPMed |
|
|
rs1211678832 CA386286623 |
222 | I>V | No |
ClinGen TOPMed |
|
|
rs144773874 CA6745648 |
226 | I>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs768959982 CA6745649 |
227 | L>F | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 227 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA242459275 rs1051129023 |
228 | P>A | No |
ClinGen TOPMed |
|
|
rs140053199 CA6745650 |
228 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6745652 rs538281829 |
231 | G>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA386286678 rs1352918557 |
231 | G>R | No |
ClinGen gnomAD |
|
|
CA386286687 rs1280202678 |
232 | F>S | No |
ClinGen gnomAD |
|
| TCGA novel | 233 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1245124450 CA386286720 |
237 | I>M | No |
ClinGen gnomAD |
|
|
CA242459286 rs931274647 |
241 | S>P | No |
ClinGen TOPMed |
|
|
rs772552419 CA6745653 |
243 | Y>S | No |
ClinGen ExAC gnomAD |
|
|
CA6745654 rs762467239 |
244 | F>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1272042275 CA386286783 |
246 | V>A | No |
ClinGen gnomAD |
|
|
CA386286791 rs1354426415 |
248 | L>V | No |
ClinGen TOPMed |
|
|
CA386286808 rs1206264495 |
250 | G>D | No |
ClinGen gnomAD |
|
|
CA6745655 rs765946077 |
251 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs1048688009 CA242459301 |
252 | V>G | No |
ClinGen TOPMed gnomAD |
|
|
rs370580831 CA6745656 |
252 | V>I | No |
ClinGen ESP ExAC gnomAD |
|
|
CA386286837 rs1416070823 |
255 | N>S | No |
ClinGen TOPMed |
|
|
rs1387592038 CA386286847 |
256 | G>E | No |
ClinGen gnomAD |
|
|
CA242459303 rs866519640 |
257 | S>F | No |
ClinGen Ensembl |
|
|
rs1445776480 CA386286860 |
259 | I>V | No |
ClinGen gnomAD |
|
|
CA6745670 rs376568586 |
261 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1267799602 CA386286890 |
261 | G>V | No |
ClinGen TOPMed |
|
|
rs748570657 CA6745671 |
262 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs773716416 CA6745673 |
264 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA6745672 rs770145626 |
264 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1468444189 CA386286914 |
265 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
rs866891583 CA242461283 |
266 | S>* | No |
ClinGen Ensembl |
|
|
CA6745674 rs762442659 |
267 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1453250297 CA386286925 |
268 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA6745675 rs770482250 |
269 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs754850627 CA242461291 |
270 | H>L | No |
ClinGen Ensembl |
|
|
rs1324645275 COSM691613 CA386286951 |
272 | G>R | lung [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs1317604105 CA386286958 |
273 | L>R | No |
ClinGen TOPMed |
|
|
rs1270561586 CA386286957 |
273 | L>V | No |
ClinGen gnomAD |
|
|
CA6745677 rs773967928 |
275 | I>V | No |
ClinGen ExAC gnomAD |
|
| rs748383370 | 276 | I>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA386287010 rs1264424167 |
281 | I>F | No |
ClinGen gnomAD |
|
|
CA242461314 rs962954481 |
283 | K>R | No |
ClinGen TOPMed |
|
|
CA386287035 rs1204058955 |
284 | K>M | No |
ClinGen gnomAD |
|
|
rs773473540 CA6745681 |
284 | K>N | No |
ClinGen ExAC |
|
|
CA6745686 rs752383369 |
287 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA6745687 rs760531745 |
290 | F>V | No |
ClinGen ExAC gnomAD |
|
|
rs1387878971 CA386287080 |
291 | E>G | No |
ClinGen TOPMed |
|
| TCGA novel | 291 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs751949455 CA6745688 |
292 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6745689 rs753885902 |
293 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA386287093 rs1473083857 |
293 | H>Y | No |
ClinGen TOPMed |
|
|
rs780323885 CA6745691 |
294 | P>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 296 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1453088626 CA386287126 |
298 | I>V | No |
ClinGen gnomAD |
|
|
CA6745692 rs751721148 |
302 | G>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 303 | C>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs547589521 CA242461360 |
304 | V>D | No |
ClinGen 1000Genomes |
|
|
rs755109851 CA6745693 |
304 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA6745694 rs781493609 |
307 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
CA6745695 rs748397981 |
310 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA386287230 rs1284744889 |
313 | V>A | No |
ClinGen gnomAD |
|
|
rs1402708042 CA386287227 |
313 | V>L | No |
ClinGen gnomAD |
|
|
rs1390511140 CA386287247 |
314 | V>E | No |
ClinGen gnomAD |
|
|
CA6745714 rs751634924 |
317 | M>L | No |
ClinGen ExAC gnomAD |
|
| VAR_032613 | 323 | Y>S | MCF-12A cell line [UniProt] | No | UniProt |
|
CA386287317 rs1358310606 |
324 | L>I | No |
ClinGen TOPMed |
|
|
CA386287329 rs1241488621 |
325 | Q>E | No |
ClinGen gnomAD |
|
| TCGA novel | 325 | Q>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs755094453 CA6745716 |
327 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs1225129030 CA386287367 |
328 | V>I | No |
ClinGen gnomAD |
|
|
CA242461721 rs572035898 |
329 | F>C | No |
ClinGen 1000Genomes |
|
|
CA386287402 rs1480414836 |
330 | L>F | No |
ClinGen gnomAD |
|
|
rs753017500 CA386287391 |
330 | L>M | No |
ClinGen ExAC gnomAD |
|
|
CA386287397 rs1470423116 |
330 | L>W | No |
ClinGen TOPMed |
|
| TCGA novel | 330 | L>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1194366308 CA386287413 |
331 | G>V | No |
ClinGen gnomAD |
|
|
CA386287430 rs1438414385 |
333 | G>C | No |
ClinGen gnomAD |
|
|
CA6745721 rs141024430 |
333 | G>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs141024430 CA6745720 |
333 | G>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs757710976 CA6745722 |
335 | L>S | No |
ClinGen ExAC gnomAD |
|
|
rs1368875028 CA386287465 |
336 | F>S | No |
ClinGen TOPMed gnomAD |
|
|
CA242461787 rs142506108 |
337 | L>F | No |
ClinGen ESP TOPMed |
|
|
rs779405162 CA6745723 |
339 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs79716906 RCV000964143 CA6745725 |
341 | F>L | No |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
rs11082 CA386287550 CA386287552 |
343 | N>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA386287545 rs1204780402 |
343 | N>T | No |
ClinGen TOPMed |
|
|
rs1381157018 CA386287568 |
345 | I>V | No |
ClinGen gnomAD |
|
|
rs768456280 CA386287588 |
346 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs115007859 CA6745729 |
347 | E>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA242461838 rs761717958 |
348 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA6745730 rs761717958 |
348 | Y>F | No |
ClinGen ExAC gnomAD |
|
|
rs1481101269 CA386287656 |
352 | W>* | No |
ClinGen gnomAD |
|
|
CA386287698 rs1566043736 |
355 | M>I | No |
ClinGen Ensembl |
|
|
CA386287688 rs1566043732 |
355 | M>T | No |
ClinGen Ensembl |
|
|
CA6745732 rs773272605 |
355 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA6745749 rs769773656 |
357 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA386288125 rs1318630666 |
360 | F>C | No |
ClinGen TOPMed |
|
|
CA6745750 rs547330381 |
360 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs1176200044 CA386288146 |
363 | V>L | No |
ClinGen gnomAD |
|
|
rs1345068999 CA386288153 |
364 | I>K | No |
ClinGen gnomAD |
|
|
CA6745751 rs200524746 |
365 | Y>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA386288171 rs770801766 |
366 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1404553980 CA386288174 |
367 | S>G | No |
ClinGen gnomAD |
|
|
rs1312180507 CA386288175 |
367 | S>N | No |
ClinGen TOPMed |
|
|
CA386288189 rs1302393254 |
369 | L>S | No |
ClinGen TOPMed |
|
|
CA6745754 rs760755818 |
372 | Q>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA242463547 rs1057447112 |
373 | I>T | No |
ClinGen Ensembl |
|
|
rs764233176 CA6745755 |
374 | S>L | No |
ClinGen ExAC gnomAD |
|
|
CA6745756 rs532787510 |
375 | R>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs762152223 CA6745757 |
375 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA242463563 rs185537713 |
376 | H>N | No |
ClinGen 1000Genomes gnomAD |
|
|
CA386288234 rs1247160893 |
376 | H>Q | No |
ClinGen gnomAD |
|
|
CA386288232 rs1488463971 |
376 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
rs760052592 CA6745759 |
377 | L>R | No |
ClinGen ExAC gnomAD |
|
|
rs765674716 CA6745758 |
377 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386288245 rs1481227235 |
378 | H>L | No |
ClinGen gnomAD |
|
|
CA386288254 rs1406660121 |
380 | N>D | No |
ClinGen gnomAD |
|
|
CA6745761 rs571410794 |
382 | F>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1427426695 CA386288275 |
383 | K>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA386288279 rs1361748341 |
383 | K>R | No |
ClinGen gnomAD |
|
|
CA242463623 rs150107260 |
386 | C>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6745764 rs150107260 |
386 | C>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA242463641 rs968752588 |
387 | H>R | No |
ClinGen Ensembl |
|
| TCGA novel | 389 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA242463650 rs368098703 |
390 | P>H | No |
ClinGen ESP ExAC gnomAD |
|
|
CA6745767 rs368098703 |
390 | P>L | No |
ClinGen ESP ExAC gnomAD |
|
|
CA386288366 rs1371361257 |
391 | E>Q | No |
ClinGen gnomAD |
|
|
rs1311290125 CA386288383 |
392 | Q>E | No |
ClinGen gnomAD |
|
|
CA6745795 rs114852578 |
395 | V>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 397 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6745797 rs745855075 |
399 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1594156626 CA386289129 |
399 | K>N | No |
ClinGen Ensembl |
|
|
CA386289121 rs1486548170 |
399 | K>T | No |
ClinGen TOPMed |
|
|
CA6745798 rs772029488 |
400 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776644330 CA6745799 |
405 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386289228 rs1448431311 |
405 | M>K | No |
ClinGen gnomAD |
|
|
CA386289230 rs1448431311 |
405 | M>T | No |
ClinGen gnomAD |
|
|
CA386289242 rs1226462967 |
406 | D>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA6745800 rs748241926 |
407 | D>R | No |
ClinGen ExAC gnomAD |
No associated diseases with Q8WUD6
No regional properties for Q8WUD6
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| No domain, repeats, and functional sites for Q8WUD6 | |||
Functions
| Description | ||
|---|---|---|
| EC Number | 2.7.8.2 | Transferases for other substituted phosphate groups |
| Subcellular Localization |
|
|
| PANTHER Family | ||
| PANTHER Subfamily | ||
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
6 GO annotations of cellular component
| Name | Definition |
|---|---|
| endoplasmic reticulum membrane | The lipid bilayer surrounding the endoplasmic reticulum. |
| Golgi apparatus | A membrane-bound cytoplasmic organelle of the endomembrane system that further processes the core oligosaccharides (e.g. N-glycans) added to proteins in the endoplasmic reticulum and packages them into membrane-bound vesicles. The Golgi apparatus operates at the intersection of the secretory, lysosomal, and endocytic pathways. |
| Golgi membrane | The lipid bilayer surrounding any of the compartments of the Golgi apparatus. |
| integral component of membrane | The component of a 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. |
| intracellular membrane-bounded organelle | Organized structure of distinctive morphology and function, bounded by a single or double lipid bilayer membrane and occurring within the cell. Includes the nucleus, mitochondria, plastids, vacuoles, and vesicles. Excludes the plasma membrane. |
| membrane | A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it. |
3 GO annotations of molecular function
| Name | Definition |
|---|---|
| diacylglycerol binding | Binding to a diacylglycerol, a diester of glycerol and two fatty acids. |
| diacylglycerol cholinephosphotransferase activity | Catalysis of the reaction: CDP-choline + 1,2-diacylglycerol = CMP + a phosphatidylcholine. |
| metal ion binding | Binding to a metal ion. |
5 GO annotations of biological process
| Name | Definition |
|---|---|
| CDP-choline pathway | The phosphatidylcholine biosynthetic process that begins with the phosphorylation of choline and ends with the combination of CDP-choline with diacylglycerol to form phosphatidylcholine. |
| lipid metabolic process | The chemical reactions and pathways involving lipids, compounds soluble in an organic solvent but not, or sparingly, in an aqueous solvent. Includes fatty acids; neutral fats, other fatty-acid esters, and soaps; long-chain (fatty) alcohols and waxes; sphingoids and other long-chain bases; glycolipids, phospholipids and sphingolipids; and carotenes, polyprenols, sterols, terpenes and other isoprenoids. |
| phosphatidylcholine biosynthetic process | The chemical reactions and pathways resulting in the formation of phosphatidylcholines, any of a class of glycerophospholipids in which the phosphatidyl group is esterified to the hydroxyl group of choline. |
| platelet activating factor biosynthetic process | The chemical reactions and pathways resulting in the formation of platelet activating factor, 1-O-alkyl-2-acetyl-sn-glycerol 3-phosphocholine, where alkyl = hexadecyl or octadecyl. Platelet activating factor is an inflammatory mediator released from a variety of cells in response to various stimuli. |
| regulation of cell growth | Any process that modulates the frequency, rate, extent or direction of cell growth. |
No homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| No homologous proteins | ||||
| 10 | 20 | 30 | 40 | 50 | 60 |
| MAAGAGAGSA | PRWLRALSEP | LSAAQLRRLE | EHRYSAAGVS | LLEPPLQLYW | TWLLQWIPLW |
| 70 | 80 | 90 | 100 | 110 | 120 |
| MAPNSITLLG | LAVNVVTTLV | LISYCPTATE | EAPYWTYLLC | ALGLFIYQSL | DAIDGKQARR |
| 130 | 140 | 150 | 160 | 170 | 180 |
| TNSCSPLGEL | FDHGCDSLST | VFMAVGASIA | ARLGTYPDWF | FFCSFIGMFV | FYCAHWQTYV |
| 190 | 200 | 210 | 220 | 230 | 240 |
| SGMLRFGKVD | VTEIQIALVI | VFVLSAFGGA | TMWDYTIPIL | EIKLKILPVL | GFLGGVIFSC |
| 250 | 260 | 270 | 280 | 290 | 300 |
| SNYFHVILHG | GVGKNGSTIA | GTSVLSPGLH | IGLIIILAIM | IYKKSATDVF | EKHPCLYILM |
| 310 | 320 | 330 | 340 | 350 | 360 |
| FGCVFAKVSQ | KLVVAHMTKS | ELYLQDTVFL | GPGLLFLDQY | FNNFIDEYVV | LWMAMVISSF |
| 370 | 380 | 390 | 400 | ||
| DMVIYFSALC | LQISRHLHLN | IFKTACHQAP | EQVQVLSSKS | HQNNMD |