P28906
PR
Gene name |
CD34 |
Protein name |
Hematopoietic progenitor cell antigen CD34 |
Names |
|
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:947 |
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 P28906
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-P28906-F1 | Predicted | AlphaFoldDB |
308 variants for P28906
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs1571784512 CA344553094 |
3 | V>A | No |
ClinGen Ensembl |
|
|
CA1372467 rs769591700 |
4 | R>P | No |
ClinGen ExAC gnomAD |
|
|
CA1372468 rs775324439 |
4 | R>S | No |
ClinGen ExAC gnomAD |
|
|
CA344553085 rs1157482799 |
5 | R>K | No |
ClinGen TOPMed |
|
|
CA344553077 rs1401018833 |
6 | G>A | No |
ClinGen gnomAD |
|
|
CA344553070 rs1453770077 |
7 | A>E | No |
ClinGen gnomAD |
|
|
CA1372466 rs538918329 |
7 | A>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA344553066 rs781011652 |
8 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs781011652 CA1372465 |
8 | R>P | No |
ClinGen ExAC gnomAD |
|
|
rs1447268968 CA344553055 |
10 | G>E | No |
ClinGen gnomAD |
|
|
CA344553057 rs1195029071 |
10 | G>R | No |
ClinGen gnomAD |
|
| TCGA novel | 14 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1241098194 CA344553026 |
14 | P>Q | No |
ClinGen gnomAD |
|
|
CA36693087 rs867164795 |
14 | P>S | No |
ClinGen Ensembl |
|
|
CA1372462 rs746540053 |
16 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs770452625 CA1372463 |
16 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1372461 rs758179289 |
18 | T>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1372460 rs758179289 |
18 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779357137 CA1372458 |
19 | A>P | No |
ClinGen ExAC gnomAD |
|
|
rs1447914788 CA344552998 |
20 | L>I | No |
ClinGen gnomAD |
|
|
CA1372457 rs745952179 |
21 | C>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1372456 rs754325569 |
22 | L>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1433180077 CA344552972 |
24 | S>G | No |
ClinGen gnomAD |
|
|
CA1372455 rs766848253 |
24 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1434018769 CA344552961 |
25 | L>F | No |
ClinGen gnomAD |
|
|
rs1265877178 CA344552964 |
25 | L>S | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 26 | L>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1233116108 CA344552955 |
27 | P>T | No |
ClinGen TOPMed |
|
|
CA344552591 rs1198314387 COSM532505 |
29 | G>E | lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
rs529148972 CA36684316 |
30 | F>L | No |
ClinGen gnomAD |
|
|
CA344552584 rs1372606664 |
30 | F>S | No |
ClinGen gnomAD |
|
|
rs373533705 CA1372434 |
31 | M>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs138486900 CA1372433 |
32 | S>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs137941074 CA1372432 |
33 | L>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 34 | D>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs778631125 CA1372431 |
34 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1461664189 CA344552543 |
36 | N>S | No |
ClinGen gnomAD |
|
|
rs759370976 CA1372429 |
37 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1372428 rs776343546 |
38 | T>N | No |
ClinGen ExAC gnomAD |
|
|
rs1168777427 CA344552517 |
40 | T>I | No |
ClinGen gnomAD |
|
|
rs988032193 CA36684273 |
42 | E>K | No |
ClinGen TOPMed |
|
|
CA344552510 rs988032193 |
42 | E>Q | No |
ClinGen TOPMed |
|
|
CA344552501 rs1558121599 |
43 | L>* | No |
ClinGen Ensembl |
|
|
CA344552495 rs1487523913 |
44 | P>S | No |
ClinGen gnomAD |
|
| TCGA novel | 47 | G>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA344552467 rs1333090767 |
48 | T>I | No |
ClinGen TOPMed |
|
|
rs1333090767 CA344552465 |
48 | T>R | No |
ClinGen TOPMed |
|
|
CA344552463 rs1470025827 |
49 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
CA344552411 rs1274811152 |
56 | V>A | No |
ClinGen gnomAD |
|
|
rs1316138798 CA344552393 |
59 | Q>* | No |
ClinGen gnomAD |
|
|
CA1372424 rs369149182 |
59 | Q>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1372423 rs747713193 |
62 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs774120895 CA1372422 |
63 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA36684198 rs978892034 |
64 | P>L | No |
ClinGen Ensembl |
|
|
CA36684194 rs777207314 |
65 | S>N | No |
ClinGen Ensembl |
|
|
CA344552347 rs1230435333 |
66 | T>I | No |
ClinGen TOPMed |
|
|
CA344552352 rs1571775288 |
66 | T>P | No |
ClinGen Ensembl |
|
|
rs1571775277 CA344552331 |
69 | S>N | No |
ClinGen Ensembl |
|
|
CA1372420 rs749652320 |
70 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA344552326 rs1571775274 |
70 | T>P | No |
ClinGen Ensembl |
|
|
CA1372419 rs780226626 |
71 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA1372418 rs756508294 |
71 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1372416 rs35359362 |
75 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1372415 rs757295859 |
76 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs751704997 CA1372414 |
77 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs764284174 CA1372413 |
79 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs200225798 CA1372412 |
80 | N>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1372411 rs201694419 |
81 | E>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1372409 rs760543727 |
82 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750366745 CA1372408 |
83 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA344552238 rs1217839977 |
84 | T>R | No |
ClinGen gnomAD |
|
|
CA344552228 rs761408025 |
86 | I>L | No |
ClinGen ExAC gnomAD |
|
|
rs1302042343 CA344552225 |
86 | I>T | No |
ClinGen gnomAD |
|
|
CA1372406 rs761408025 |
86 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs954687741 CA36684084 |
87 | T>P | No |
ClinGen Ensembl |
|
|
CA344552198 rs1279434069 |
89 | T>A | No |
ClinGen gnomAD |
|
|
rs755837615 CA1372391 |
89 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs556737151 CA344552183 |
91 | V>A | No |
ClinGen TOPMed |
|
|
CA36683635 rs556737151 |
91 | V>G | No |
ClinGen TOPMed |
|
|
CA1372388 rs767549906 |
93 | F>V | No |
ClinGen ExAC gnomAD |
|
|
rs201559434 CA1372387 |
95 | S>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1413262961 CA344552157 |
95 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1355231401 CA344552151 |
96 | T>I | No |
ClinGen gnomAD |
|
|
rs1468928577 CA344552126 |
100 | T>I | No |
ClinGen TOPMed |
|
|
CA344552093 rs1167453478 |
105 | N>K | No |
ClinGen TOPMed gnomAD |
|
|
rs762571077 CA1372383 |
106 | T>A | No |
ClinGen ExAC gnomAD |
|
|
COSM1247696 CA344552085 rs1374940875 |
107 | N>D | oesophagus [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs774973450 CA1372382 |
109 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774973450 CA344552072 |
109 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759880989 CA1372380 |
111 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs373770382 CA1372379 |
112 | S>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs373770382 CA1372378 |
112 | S>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs778363505 CA1372376 |
114 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA1372374 rs368829114 |
118 | S>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1372373 rs779002641 |
119 | T>P | No |
ClinGen ExAC gnomAD |
|
|
rs754126325 CA1372371 |
122 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA344551992 rs1571774614 |
122 | T>P | No |
ClinGen Ensembl |
|
|
rs1571774599 CA344551987 |
123 | T>P | No |
ClinGen Ensembl |
|
|
rs184763697 CA36683518 |
124 | P>R | No |
ClinGen 1000Genomes |
|
|
rs757151224 CA1372370 |
125 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757151224 CA1372369 |
125 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751495564 CA1372368 |
126 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs146237257 RCV000899525 CA1372367 |
127 | V>I | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA1372366 rs757840744 |
128 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs148688256 CA1372364 |
133 | T>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs148688256 CA1372365 |
133 | T>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA344551926 rs148688256 |
133 | T>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA344551922 rs1324076698 |
134 | L>S | No |
ClinGen gnomAD |
|
|
rs201672357 CA1372363 |
135 | K>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA36683419 rs542222417 |
136 | P>L | No |
ClinGen 1000Genomes |
|
|
rs1374426521 CA344551903 |
137 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA36683418 rs373027811 |
138 | L>P | No |
ClinGen ESP TOPMed |
|
|
CA1372361 rs766678767 |
140 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1361935194 CA344551864 |
143 | V>D | No |
ClinGen gnomAD |
|
|
CA344551847 rs1437866697 |
146 | L>F | No |
ClinGen gnomAD |
|
|
CA1372359 rs773563879 |
147 | S>L | No |
ClinGen ExAC gnomAD |
|
|
rs772704456 CA1372358 |
149 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs748164623 CA1372357 |
152 | S>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748164623 CA344551810 |
152 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs371116376 CA1372356 |
153 | L>F | No |
ClinGen ESP ExAC gnomAD |
|
| TCGA novel | 155 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1372355 rs376801128 |
159 | K>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1324080052 CA344551760 |
160 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs749484739 CA344551763 |
160 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749484739 CA1372354 |
160 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs560113399 CA36683343 |
162 | T>A | No |
ClinGen TOPMed |
|
|
CA344551747 rs1225019090 |
162 | T>I | No |
ClinGen TOPMed |
|
|
CA344551743 COSM1338474 rs1558121188 |
163 | S>* | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
CA36683332 rs868211780 |
166 | P>L | No |
ClinGen Ensembl |
|
|
rs1224552815 CA344551727 |
166 | P>S | No |
ClinGen TOPMed |
|
|
CA1372351 rs757085668 |
168 | L>I | No |
ClinGen ExAC |
|
|
rs1395567495 CA344551709 |
169 | S>N | No |
ClinGen gnomAD |
|
|
CA1372338 rs535931201 |
173 | A>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA344551567 rs1433513193 |
174 | E>K | No |
ClinGen gnomAD |
|
|
CA1372337 rs768811135 |
178 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA344551518 rs1428604641 |
181 | R>G | No |
ClinGen TOPMed |
|
|
rs1303187101 CA344551515 |
181 | R>T | No |
ClinGen TOPMed |
|
|
CA1372336 rs749431421 |
183 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA344551487 rs1157514940 |
185 | L>S | No |
ClinGen gnomAD |
|
| TCGA novel | 187 | Q>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs775847452 CA1372335 |
188 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA36681846 rs866705309 |
192 | E>D | No |
ClinGen gnomAD |
|
|
rs1278731994 CA344551443 |
192 | E>K | No |
ClinGen gnomAD |
|
|
CA344551439 rs1293312372 |
192 | E>V | No |
ClinGen TOPMed |
|
|
rs1348623984 CA344551437 |
193 | Q>K | No |
ClinGen gnomAD |
|
|
rs746088101 CA344551433 |
193 | Q>L | No |
ClinGen ExAC gnomAD |
|
|
rs746088101 CA1372333 |
193 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
CA344551398 rs1384257658 |
198 | S>N | No |
ClinGen TOPMed |
|
|
CA1372252 rs34679398 |
200 | A>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1372251 rs34679398 |
200 | A>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA36675292 rs373654416 |
206 | R>K | No |
ClinGen ESP |
|
|
rs1484685577 CA344550409 |
209 | G>V | No |
ClinGen gnomAD |
|
|
CA344550403 rs1217866574 |
211 | A>T | No |
ClinGen gnomAD |
|
|
CA36675278 rs753812536 |
212 | R>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1483955349 CA344550394 |
212 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1483955349 CA344550396 |
212 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA344550390 rs1226278690 |
213 | V>A | No |
ClinGen gnomAD |
|
|
CA344550392 rs755383718 |
213 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA1372247 rs755383718 |
213 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs1558117799 CA528999849 |
215 | C>* | No |
ClinGen Ensembl |
|
|
CA344550380 rs1558117791 |
215 | C>Y | No |
ClinGen Ensembl |
|
|
rs754376383 CA1372246 |
216 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA344550373 rs1291163087 |
216 | G>W | No |
ClinGen gnomAD |
|
|
CA1372245 rs766329396 |
217 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1397796766 CA344550358 |
218 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
rs750625575 CA1372243 |
218 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1365931646 CA344550355 |
219 | Q>K | No |
ClinGen TOPMed |
|
|
rs1394443035 CA344550343 |
220 | A>V | No |
ClinGen gnomAD |
|
|
CA1372242 rs767770192 |
224 | A>D | No |
ClinGen ExAC gnomAD |
|
|
rs762735944 CA1372241 |
225 | G>E | No |
ClinGen ExAC |
|
|
CA344550307 rs1466385784 |
226 | A>D | No |
ClinGen TOPMed gnomAD |
|
|
CA344550302 rs1172643263 |
227 | Q>* | No |
ClinGen gnomAD |
|
|
rs373801141 CA1372238 |
227 | Q>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs199957296 CA36675222 |
227 | Q>R | No |
ClinGen Ensembl |
|
| TCGA novel | 229 | C>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs759347295 CA344550291 |
229 | C>G | No |
ClinGen ExAC gnomAD |
|
|
rs759347295 CA1372237 |
229 | C>R | No |
ClinGen ExAC gnomAD |
|
|
rs1425001481 CA344550281 |
230 | S>C | No |
ClinGen gnomAD |
|
|
rs1425001481 CA344550283 |
230 | S>F | No |
ClinGen gnomAD |
|
|
rs372830709 CA36675214 COSM1626789 |
230 | S>P | liver [Cosmic] | No |
ClinGen cosmic curated Ensembl |
| TCGA novel | 232 | L>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM3803733 rs1260391772 COSM3803734 CA344550243 |
237 | E>K | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA1372233 rs746558536 |
238 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1297080305 CA344550219 |
240 | P>L | No |
ClinGen TOPMed |
|
|
CA1372231 rs745971848 |
240 | P>L | No |
ClinGen ExAC |
|
|
rs772992858 CA1372232 |
240 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA36675164 rs895296766 |
242 | C>W | No |
ClinGen TOPMed |
|
|
rs1306462657 CA344550173 |
248 | A>S | No |
ClinGen gnomAD |
|
|
rs769096453 CA1372227 |
250 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs1324154852 COSM425190 CA344550152 |
251 | T>K | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA1372212 rs140572579 |
254 | S>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA344550113 rs1203242741 |
255 | S>N | No |
ClinGen TOPMed |
|
|
rs1012548251 CA36674780 |
256 | K>E | No |
ClinGen Ensembl |
|
|
rs761333484 CA1372210 |
258 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs774074850 CA1372209 |
258 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs894409126 CA36674730 |
259 | L>F | No |
ClinGen TOPMed |
|
|
rs768882085 CA1372208 |
260 | M>L | No |
ClinGen ExAC gnomAD |
|
|
CA344550082 rs749705632 |
260 | M>R | No |
ClinGen ExAC gnomAD |
|
|
CA1372207 rs749705632 |
260 | M>T | No |
ClinGen ExAC gnomAD |
|
| rs1248260538 | 263 | H>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA344550055 rs1261584972 CA344550056 |
263 | H>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1218029562 CA344550052 |
264 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1558117535 CA344550042 |
265 | S>F | No |
ClinGen Ensembl |
|
|
CA1372205 rs371009062 |
265 | S>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1372204 rs746375828 |
268 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA344550017 rs1233824707 |
269 | K>R | No |
ClinGen gnomAD |
|
| TCGA novel | 269 | K>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA344549994 rs1171914037 |
271 | G>E | No |
ClinGen gnomAD |
|
|
CA344549983 rs1206439401 |
273 | L>V | No |
ClinGen TOPMed |
|
|
CA344549949 rs1246966902 |
278 | Q>E | No |
ClinGen TOPMed |
|
|
rs1181811731 CA344549939 |
279 | D>N | No |
ClinGen gnomAD |
|
|
CA344549933 rs1226976194 |
280 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs755997844 CA1372175 |
284 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1372174 rs559278974 |
285 | S>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs756721107 CA1372173 |
290 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756721107 CA1372172 |
290 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA344549856 rs1258958092 |
291 | L>V | No |
ClinGen gnomAD |
|
|
CA344549846 rs1472788751 |
292 | I>M | No |
ClinGen TOPMed |
|
|
CA36674328 rs944292483 |
294 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1198984051 CA344549838 |
294 | L>V | No |
ClinGen gnomAD |
|
|
rs1398956885 CA344549835 |
295 | V>I | No |
ClinGen TOPMed |
|
|
COSM1338471 rs1285506780 CA344549818 |
297 | S>L | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs1375612844 CA344549806 |
299 | A>V | No |
ClinGen gnomAD |
|
|
rs1558117305 CA344549781 |
304 | L>S | No |
ClinGen Ensembl |
|
| TCGA novel | 305 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA344549776 rs1406507557 |
305 | G>S | No |
ClinGen gnomAD |
|
|
CA344549762 rs1338512560 |
307 | T>A | No |
ClinGen TOPMed |
|
|
CA1372167 rs188832651 |
308 | G>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1416031742 CA344549757 |
308 | G>S | No |
ClinGen gnomAD |
|
|
rs759930157 CA1372166 |
310 | F>L | No |
ClinGen ExAC |
|
|
CA36674300 rs1042856195 |
311 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1042856195 CA344549735 |
311 | L>R | No |
ClinGen TOPMed gnomAD |
|
|
rs777117210 CA1372165 |
312 | M>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA36674280 rs568370686 |
313 | N>D | No |
ClinGen Ensembl |
|
|
CA344549723 rs1279995598 |
313 | N>S | No |
ClinGen TOPMed |
|
|
rs528772883 CA1372164 |
314 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1372163 rs146542924 |
314 | R>H | Variant assessed as Somatic; 4.619e-05 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs528772883 CA344549717 |
314 | R>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs773274873 CA344549713 |
315 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA1372161 rs146829371 |
315 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs773274873 CA1372162 |
315 | R>S | No |
ClinGen ExAC gnomAD |
|
|
CA36674215 rs373446184 |
316 | S>G | No |
ClinGen ESP TOPMed |
|
|
CA344549697 rs1205153556 COSM1338469 |
317 | W>* | large_intestine [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
rs139572217 CA1372160 |
318 | S>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1237251103 CA344549685 |
319 | P>S | No |
ClinGen gnomAD |
|
|
CA1372159 rs370912818 |
320 | T>S | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1448580377 CA344549659 |
323 | R>K | No |
ClinGen gnomAD |
|
|
CA1372116 rs151003204 |
325 | G>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1372114 rs375699533 |
326 | E>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1372113 rs375699533 |
326 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs778354199 CA1372112 |
329 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA1372111 rs371127878 |
331 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA344549462 rs1374859635 |
332 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
rs753507818 CA1372110 |
333 | N>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA1372108 rs750812013 |
334 | G>C | No |
ClinGen ExAC gnomAD |
|
|
CA1372106 rs368736831 |
334 | G>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA344549451 rs750812013 |
334 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs750812013 CA1372107 |
334 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs1367377590 CA344549442 |
336 | G>S | No |
ClinGen gnomAD |
|
|
CA344549433 rs1405093374 |
337 | Q>P | No |
ClinGen gnomAD |
|
|
CA36673537 rs995751006 |
338 | G>D | No |
ClinGen Ensembl |
|
|
CA344549428 rs1187556124 |
338 | G>S | No |
ClinGen gnomAD |
|
|
CA36673532 rs906924462 |
339 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
CA344549423 rs1235926829 |
339 | Y>H | No |
ClinGen gnomAD |
|
|
CA344549403 rs1458469231 |
341 | S>L | No |
ClinGen gnomAD |
|
|
rs1240469316 CA344549400 |
342 | G>* | No |
ClinGen gnomAD |
|
|
rs1240469316 CA344549401 |
342 | G>R | No |
ClinGen gnomAD |
|
|
rs370699088 CA1372105 |
343 | P>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs370699088 CA36673529 |
343 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1046877421 CA36673521 |
344 | G>A | No |
ClinGen TOPMed |
|
|
CA1372102 rs763160846 |
345 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs1571765614 CA344549385 |
345 | T>S | No |
ClinGen Ensembl |
|
|
rs1447863216 CA344549374 |
347 | P>S | No |
ClinGen gnomAD |
|
|
rs765433348 CA1372100 |
348 | E>D | No |
ClinGen ExAC TOPMed |
|
|
CA1372098 rs759816274 |
349 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA36673447 rs374188146 |
351 | G>E | No |
ClinGen ESP TOPMed |
|
|
CA344549350 rs1571765552 |
351 | G>R | No |
ClinGen Ensembl |
|
|
CA344549331 rs140387904 |
354 | S>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1372097 rs140387904 |
354 | S>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1181141571 CA344549320 |
355 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
CA1372096 rs559544466 |
355 | V>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
COSM3803728 COSM3803727 rs748029201 CA1372095 |
357 | R>* | breast [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA36673386 rs367900443 |
357 | R>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs367900443 CA1372094 COSM1247697 |
357 | R>Q | oesophagus [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
rs768124315 CA344549275 |
362 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs202201441 CA1372091 |
363 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1372092 rs202201441 |
363 | G>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA344549267 rs1157652886 |
364 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
rs79500044 CA1372088 |
365 | G>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs757721752 CA1372087 |
365 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs79500044 CA1372089 |
365 | G>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 365 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1212195813 CA344549250 COSM1500680 |
367 | A>D | lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs28362497 CA1372083 VAR_050774 |
367 | A>S | No |
ClinGen UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
rs28362497 CA1372084 |
367 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA344549247 rs1212195813 |
367 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA36673247 rs267598345 |
372 | G>D | No |
ClinGen Ensembl |
|
|
CA1372079 rs576352558 |
372 | G>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA344549172 rs1398146175 |
374 | S>* | No |
ClinGen Ensembl |
|
|
rs1433130750 CA344549162 |
375 | A>G | No |
ClinGen TOPMed |
|
|
rs113941793 CA344549118 CA1372077 |
379 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs113941793 CA1372076 |
379 | V>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs974993232 CA36673218 |
380 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
rs774267798 CA1372075 |
381 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1358058744 CA344549095 |
381 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs768640209 CA1372074 |
384 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs768640209 CA36673185 |
384 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA344549036 rs1170467894 |
386 | L>W | No |
ClinGen gnomAD |
No associated diseases with P28906
No regional properties for P28906
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| No domain, repeats, and functional sites for P28906 | |||
10 GO annotations of cellular component
| Name | Definition |
|---|---|
| apical plasma membrane | The region of the plasma membrane located at the apical end of the cell. |
| basal plasma membrane | The region of the plasma membrane located at the basal end of the cell. Often used in reference to animal polarized epithelial membranes, where the basal membrane is the part attached to the extracellular matrix, or in plant cells, where the basal membrane is defined with respect to the zygotic axis. |
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| external side of plasma membrane | The leaflet of the plasma membrane that faces away from the cytoplasm and any proteins embedded or anchored in it or attached to its surface. |
| glomerular endothelium fenestra | A large plasma membrane-lined circular pore that perforates the flattened glomerular endothelium and, unlike those of other fenestrated capillaries, is not spanned by diaphragms; the density and size of glomerular fenestrae account, at least in part, for the high permeability of the glomerular capillary wall to water and small solutes. |
| 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. |
| intercellular bridge | A direct connection between the cytoplasm of two cells that is formed following the completion of cleavage furrow ingression during cell division. They are usually present only briefly prior to completion of cytokinesis. However, in some cases, such as the bridges between germ cells during their development, they become stabilised. |
| lysosome | A small lytic vacuole that has cell cycle-independent morphology found in most animal cells and that contains a variety of hydrolases, most of which have their maximal activities in the pH range 5-6. The contained enzymes display latency if properly isolated. About 40 different lysosomal hydrolases are known and lysosomes have a great variety of morphologies and functions. |
| perinuclear region of cytoplasm | Cytoplasm situated near, or occurring around, the nucleus. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
3 GO annotations of molecular function
| Name | Definition |
|---|---|
| carbohydrate binding | Binding to a carbohydrate, which includes monosaccharides, oligosaccharides and polysaccharides as well as substances derived from monosaccharides by reduction of the carbonyl group (alditols), by oxidation of one or more hydroxy groups to afford the corresponding aldehydes, ketones, or carboxylic acids, or by replacement of one or more hydroxy group(s) by a hydrogen atom. Cyclitols are generally not regarded as carbohydrates. |
| RNA polymerase II-specific DNA-binding transcription factor binding | Binding to a sequence-specific DNA binding RNA polymerase II transcription factor, any of the factors that interact selectively and non-covalently with a specific DNA sequence in order to modulate transcription. |
| sulfate binding | Binding to sulfate, SO4(2-), a negatively charged small molecule. |
36 GO annotations of biological process
| Name | Definition |
|---|---|
| cell motility | Any process involved in the controlled self-propelled movement of a cell that results in translocation of the cell from one place to another. |
| cell-cell adhesion | The attachment of one cell to another cell via adhesion molecules. |
| cell-matrix adhesion | The binding of a cell to the extracellular matrix via adhesion molecules. |
| endothelial cell proliferation | The multiplication or reproduction of endothelial cells, resulting in the expansion of a cell population. Endothelial cells are thin flattened cells which line the inside surfaces of body cavities, blood vessels, and lymph vessels, making up the endothelium. |
| endothelium development | The process whose specific outcome is the progression of an endothelium over time, from its formation to the mature structure. Endothelium refers to the layer of cells lining blood vessels, lymphatics, the heart, and serous cavities, and is derived from bone marrow or mesoderm. Corneal endothelium is a special case, derived from neural crest cells. |
| extracellular exosome assembly | The aggregation, arrangement and bonding together of a set of components to form an extracellular vesicular exosome, a membrane-bounded vesicle that is released into the extracellular region by fusion of the limiting endosomal membrane of a multivesicular body with the plasma membrane. Exosomes are defined by their size, which generally ranges from 30 nm to 100 nm. |
| glomerular endothelium development | The process whose specific outcome is the progression of the glomerular endothelium over time, from its formation to the mature structure. The glomerular endothelium is an epithelial tissue that covers the internal surfaces of the glomerulus. |
| glomerular filtration | The process in which plasma is filtered through the glomerular membrane which consists of capillary endothelial cells, the basement membrane, and epithelial cells. The glomerular filtrate is the same as plasma except it has no significant amount of protein. |
| hematopoietic stem cell proliferation | The expansion of a hematopoietic stem cell population by cell division. A hematopoietic stem cell is a stem cell from which all cells of the lymphoid and myeloid lineages develop. |
| hemopoiesis | The process whose specific outcome is the progression of the myeloid and lymphoid derived organ/tissue systems of the blood and other parts of the body over time, from formation to the mature structure. The site of hemopoiesis is variable during development, but occurs primarily in bone marrow or kidney in many adult vertebrates. |
| leukocyte migration | The movement of a leukocyte within or between different tissues and organs of the body. |
| mesangial cell-matrix adhesion | The binding of a mesangial cell to the extracellular matrix via adhesion molecules. A mesangial cell is a cell that encapsulates the capillaries and venules in the kidney. |
| metanephric glomerular mesangial cell differentiation | The process in which relatively unspecialized cells acquire specialized structural and/or functional features that characterize the glomerular mesangial cells of the metanephros as it progresses from its formation to the mature state. |
| negative regulation of blood coagulation | Any process that stops, prevents, or reduces the frequency, rate or extent of blood coagulation. |
| negative regulation of cellular response to heat | Any process that stops, prevents or reduces the frequency, rate or extent of cellular response to heat. |
| negative regulation of cellular response to hypoxia | Any process that stops, prevents or reduces the frequency, rate or extent of cellular response to hypoxia. |
| negative regulation of gene expression | Any process that decreases the frequency, rate or extent of gene expression. Gene expression is the process in which a gene's coding sequence is converted into a mature gene product (protein or RNA). |
| negative regulation of interleukin-2 production | Any process that stops, prevents, or reduces the frequency, rate, or extent of interleukin-2 production. |
| negative regulation of neuron death | Any process that stops, prevents or reduces the frequency, rate or extent of neuron death. |
| negative regulation of nitric oxide biosynthetic process | Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of nitric oxide. |
| negative regulation of tumor necrosis factor production | Any process that stops, prevents, or reduces the frequency, rate, or extent of tumor necrosis factor production. |
| paracrine signaling | The transfer of information from one cell to another, where the signal travels from the signal-producing cell to the receiving cell by passive diffusion or bulk flow in intercellular fluid. The signaling cell and the receiving cell are usually in the vicinity of each other. |
| positive regulation of angiogenesis | Any process that activates or increases angiogenesis. |
| positive regulation of gene expression | Any process that increases the frequency, rate or extent of gene expression. Gene expression is the process in which a gene's coding sequence is converted into a mature gene product (protein or RNA). |
| positive regulation of glial cell-derived neurotrophic factor production | Any process that activates or increases the frequency, rate or extent of glial cell-derived neurotrophic factor production. |
| positive regulation of granulocyte colony-stimulating factor production | Any process that activates or increases the frequency, rate, or extent of production of granulocyte colony-stimulating factor. |
| positive regulation of interleukin-10 production | Any process that activates or increases the frequency, rate, or extent of interleukin-10 production. |
| positive regulation of odontogenesis | Any process that activates or increases the frequency, rate or extent of the formation and development of a tooth or teeth. |
| positive regulation of transforming growth factor beta production | Any process that activates or increases the frequency, rate, or extent of production of transforming growth factor-beta. |
| positive regulation of vasculogenesis | Any process that activates or increases the frequency, rate or extent of vasculogenesis. |
| regulation of blood pressure | Any process that modulates the force with which blood travels through the circulatory system. The process is controlled by a balance of processes that increase pressure and decrease pressure. |
| 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. |
| stem cell proliferation | The multiplication or reproduction of stem cells, resulting in the expansion of a stem cell population. A stem cell is a cell that retains the ability to divide and proliferate throughout life to provide progenitor cells that can differentiate into specialized cells. |
| tissue homeostasis | A homeostatic process involved in the maintenance of an internal steady state within a defined tissue of an organism, including control of cellular proliferation and death and control of metabolic function. |
| transdifferentiation | The conversion of a differentiated cell of one fate into a differentiated cell of another fate without first undergoing cell division or reversion to a more primitive or stem cell-like fate. |
| vascular wound healing | Blood vessel formation when new vessels emerge from the proliferation of pre-existing blood vessels and contribute to the series of events that restore integrity to damaged vasculature. |
No homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| No homologous proteins | ||||
| 10 | 20 | 30 | 40 | 50 | 60 |
| MLVRRGARAG | PRMPRGWTAL | CLLSLLPSGF | MSLDNNGTAT | PELPTQGTFS | NVSTNVSYQE |
| 70 | 80 | 90 | 100 | 110 | 120 |
| TTTPSTLGST | SLHPVSQHGN | EATTNITETT | VKFTSTSVIT | SVYGNTNSSV | QSQTSVISTV |
| 130 | 140 | 150 | 160 | 170 | 180 |
| FTTPANVSTP | ETTLKPSLSP | GNVSDLSTTS | TSLATSPTKP | YTSSSPILSD | IKAEIKCSGI |
| 190 | 200 | 210 | 220 | 230 | 240 |
| REVKLTQGIC | LEQNKTSSCA | EFKKDRGEGL | ARVLCGEEQA | DADAGAQVCS | LLLAQSEVRP |
| 250 | 260 | 270 | 280 | 290 | 300 |
| QCLLLVLANR | TEISSKLQLM | KKHQSDLKKL | GILDFTEQDV | ASHQSYSQKT | LIALVTSGAL |
| 310 | 320 | 330 | 340 | 350 | 360 |
| LAVLGITGYF | LMNRRSWSPT | GERLGEDPYY | TENGGGQGYS | SGPGTSPEAQ | GKASVNRGAQ |
| 370 | 380 | ||||
| ENGTGQATSR | NGHSARQHVV | ADTEL |