Q9UIB8
PR
Gene name |
CD84 (SLAMF5) |
Protein name |
SLAM family member 5 |
Names |
|
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:8832 |
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
2 structures for Q9UIB8
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 2PKD | X-ray | 204 A | A/B/C/D/E/F | 22-131 | PDB |
| AF-Q9UIB8-F1 | Predicted | AlphaFoldDB |
285 variants for Q9UIB8
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA1200432 rs773845281 |
3 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA343291441 rs1488570502 |
4 | H>D | No |
ClinGen TOPMed gnomAD |
|
|
CA343291440 rs1488570502 |
4 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs1427222177 CA343291406 |
8 | I>M | No |
ClinGen gnomAD |
|
|
rs765931708 CA1200431 |
11 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA343291377 rs1463107273 |
13 | L>Q | No |
ClinGen TOPMed |
|
|
rs544642873 CA1200406 |
17 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA343291259 rs1300015875 |
19 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA1200405 rs772446960 |
20 | A>D | No |
ClinGen ExAC gnomAD |
|
|
CA343291223 rs1557980411 |
21 | G>A | No |
ClinGen Ensembl |
|
|
rs1287170037 CA343291229 |
21 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA1200404 rs745922047 |
22 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA343291194 rs1164767515 |
23 | D>G | No |
ClinGen gnomAD |
|
|
CA343291199 rs1350971571 |
23 | D>H | No |
ClinGen gnomAD |
|
|
CA343291141 rs1188754898 |
26 | I>T | No |
ClinGen gnomAD |
|
|
CA1200402 rs771462613 |
27 | F>S | No |
ClinGen ExAC gnomAD |
|
|
CA1200401 rs749815582 |
28 | T>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA343291094 rs1488557964 |
29 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
CA1200399 rs367831747 |
30 | N>H | No |
ClinGen ESP ExAC gnomAD |
|
|
CA1200398 rs141227872 |
30 | N>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1200397 rs779629800 |
31 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs764714646 CA1200394 |
34 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1301082187 CA343291037 |
34 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA1200393 rs761402478 |
35 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs761402478 CA343291024 |
35 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA1200391 rs764123830 |
37 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs1423328393 CA343290951 |
39 | F>L | No |
ClinGen gnomAD |
|
|
CA343290913 rs1372743299 |
42 | N>K | No |
ClinGen gnomAD |
|
|
rs775475479 CA1200389 |
46 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs949572473 CA343290840 |
47 | R>P | No |
ClinGen gnomAD |
|
|
CA31549187 rs949572473 |
47 | R>Q | No |
ClinGen gnomAD |
|
|
rs745377490 CA31549192 |
47 | R>W | No |
ClinGen TOPMed |
|
| TCGA novel | 48 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA31549181 rs778292971 |
51 | I>S | No |
ClinGen Ensembl |
|
|
CA1200387 rs759902507 |
53 | A>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 54 | W>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1200386 rs774474776 |
54 | W>S | No |
ClinGen ExAC gnomAD |
|
|
rs1266095933 CA343290715 |
55 | T>I | No |
ClinGen gnomAD |
|
|
CA343290699 rs1557980231 |
57 | K>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs1483984019 CA343290680 |
58 | T>P | No |
ClinGen gnomAD |
|
|
rs749389960 CA1200384 |
59 | S>P | No |
ClinGen ExAC |
|
|
rs778097397 CA1200383 |
61 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1055385104 CA31549158 |
64 | T>K | No |
ClinGen TOPMed gnomAD |
|
|
CA343290584 rs1287697418 |
65 | P>Q | No |
ClinGen TOPMed |
|
|
CA343290573 rs1488437630 |
66 | G>* | No |
ClinGen TOPMed |
|
|
rs764308308 CA31549153 |
67 | D>N | No |
ClinGen gnomAD |
|
|
rs1221091048 CA343290509 |
70 | T>I | No |
ClinGen TOPMed |
|
|
rs937026468 CA31549146 |
71 | A>T | No |
ClinGen gnomAD |
|
|
rs770304404 CA1200382 |
71 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs143910468 CA1200379 |
72 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs781574235 CA1200380 |
72 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1335529 CA343290480 rs770265408 |
73 | V>I | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs770265408 CA1200377 |
73 | V>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 75 | T>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA343290451 rs1394794315 |
75 | T>S | No |
ClinGen gnomAD |
|
|
rs113826951 CA31549091 |
78 | H>R | No |
ClinGen gnomAD |
|
|
rs779428193 CA31549102 |
78 | H>Y | No |
ClinGen Ensembl |
|
|
rs1376767459 CA343290397 |
79 | R>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
| TCGA novel | 80 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1200376 rs748607653 |
80 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs753414094 CA1200375 |
81 | Y>D | No |
ClinGen ExAC gnomAD |
|
|
CA1200374 rs763919463 |
82 | Y>D | No |
ClinGen ExAC gnomAD |
|
|
rs201663416 COSM1335528 CA1200373 |
84 | R>Q | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
COSM70096 rs907105760 CA31549074 |
84 | R>W | ovary Variant assessed as Somatic; 0.0 impact. large_intestine [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs752538126 CA1200372 |
85 | I>L | No |
ClinGen ExAC gnomAD |
|
|
rs767474750 COSM898321 CA1200371 |
86 | H>R | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA31549058 rs954697690 |
87 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs199818239 CA1200368 |
90 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs773388915 CA1200366 |
92 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773388915 CA31549031 |
92 | Y>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1200364 rs748714196 |
93 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA1200365 rs372847976 |
93 | N>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM1688967 rs751746966 COSM1688968 CA1200362 |
98 | D>N | Variant assessed as Somatic; 0.0 impact. central_nervous_system skin [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA1200361 rs747432528 |
99 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs756987591 CA1200359 |
101 | M>L | No |
ClinGen ExAC gnomAD |
|
|
CA343290091 rs777494416 |
104 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM70095 CA1200357 rs777494416 |
104 | A>T | ovary Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA343290085 rs1242741611 |
104 | A>V | No |
ClinGen gnomAD |
|
|
CA343290078 rs1466255187 |
105 | G>R | No |
ClinGen gnomAD |
|
|
rs1006273069 CA31548978 |
106 | D>G | No |
ClinGen Ensembl |
|
|
CA1200354 rs767564209 |
106 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA1200353 rs754685641 |
107 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1200352 rs751392373 |
109 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs370980795 CA1200350 |
111 | I>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1200351 rs370980795 |
111 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1200349 rs773158903 |
112 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs765244258 CA1200348 |
113 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA343289939 rs1440709084 |
114 | Q>H | No |
ClinGen TOPMed |
|
|
CA1200347 rs761886462 |
115 | A>S | No |
ClinGen ExAC |
|
|
CA31548959 rs1013796013 |
115 | A>V | No |
ClinGen Ensembl |
|
|
CA1200346 rs777084170 |
116 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA343289919 rs1365224304 |
116 | D>V | No |
ClinGen gnomAD |
|
|
rs769173621 CA1200345 |
117 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs769173621 CA31548946 |
117 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA1200343 rs775966872 |
119 | T>N | No |
ClinGen ExAC gnomAD |
|
|
rs770488845 CA1200342 |
120 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA1200341 rs749030348 |
121 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA343289861 rs1457164783 |
121 | T>S | No |
ClinGen gnomAD |
|
|
rs777579832 CA1200340 |
122 | K>M | No |
ClinGen ExAC |
|
|
rs755614848 CA1200339 |
123 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA1200338 rs747688543 |
123 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA343289828 rs1366964952 |
124 | Y>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs376492782 CA31548886 |
128 | I>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs754992191 CA1200336 |
128 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs376492782 CA1200337 |
128 | I>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
COSM1688966 CA1200334 rs766261094 COSM1688965 |
130 | R>C | skin [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA1200311 rs764295635 |
131 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA1200312 rs372579851 |
131 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1200310 rs760686065 CA343291328 |
133 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 133 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs753178904 CA1200309 |
134 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs767937998 CA1200305 |
136 | K>E | No |
ClinGen ExAC TOPMed |
|
|
CA1200306 rs763855342 |
136 | K>F | No |
ClinGen ExAC |
|
|
CA31577167 rs767937998 |
136 | K>Q | No |
ClinGen ExAC TOPMed |
|
|
rs1201941980 CA343291283 |
138 | T>A | No |
ClinGen gnomAD |
|
|
CA343291265 rs1278980769 |
139 | Q>R | No |
ClinGen gnomAD |
|
|
rs1363389194 CA343291181 |
146 | N>S | No |
ClinGen Ensembl |
|
|
CA1200301 rs774900590 |
147 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774900590 CA343291168 |
147 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA343291142 rs1474561219 |
149 | C>S | No |
ClinGen TOPMed |
|
|
rs761624172 CA1200299 |
150 | N>D | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 151 | V>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs201135783 CA1200298 |
151 | V>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA343291087 rs1416289862 |
154 | T>I | No |
ClinGen TOPMed |
|
|
CA1200296 rs200573867 |
155 | C>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1361108112 CA343291086 |
155 | C>S | No |
ClinGen TOPMed gnomAD |
|
|
rs200975824 CA31577118 |
155 | C>Y | No |
ClinGen Ensembl |
|
|
rs201762029 CA1200294 |
156 | S>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs745636238 CA31577080 |
158 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1420223463 CA343290976 |
164 | V>M | No |
ClinGen gnomAD |
|
|
rs1232705737 CA343290957 |
165 | T>I | No |
ClinGen TOPMed |
|
| TCGA novel | 166 | Y>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1200291 rs757460740 |
166 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
COSM1646045 CA1200288 rs139298884 COSM676729 |
167 | N>D | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs139298884 CA1200289 |
167 | N>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1200286 rs768041830 |
168 | W>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1269501889 CA343290886 |
171 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA1200284 rs751967618 |
172 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs1316238351 CA343290878 |
172 | G>R | No |
ClinGen gnomAD |
|
| TCGA novel | 172 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1571353118 CA343290869 |
173 | E>K | No |
ClinGen Ensembl |
|
| TCGA novel | 176 | N>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs966873527 CA31576988 |
179 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1485164117 CA343290742 |
183 | T>A | No |
ClinGen TOPMed |
|
|
rs571102048 CA1200281 |
183 | T>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
CA343290733 rs1185131252 |
184 | P>A | No |
ClinGen TOPMed |
|
|
rs760210658 CA1200279 |
185 | E>K | No |
ClinGen ExAC |
|
|
rs547616119 CA343290695 |
187 | Q>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA1200277 rs547616119 |
187 | Q>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA31576926 rs894552753 |
188 | E>D | No |
ClinGen gnomAD |
|
|
CA1200276 rs146076557 |
192 | T>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs138243911 CA1200274 |
193 | C>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1460746648 CA343290615 |
194 | T>A | No |
ClinGen TOPMed |
|
|
rs749109623 CA1200273 |
194 | T>K | No |
ClinGen ExAC gnomAD |
|
|
rs756335302 CA1200271 |
196 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs1240225366 CA343290570 |
197 | N>K | No |
ClinGen gnomAD |
|
|
rs561868777 CA1200270 |
198 | P>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA343290564 rs561868777 |
198 | P>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1322053920 CA343290558 |
199 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1414443077 CA343290512 |
202 | N>S | No |
ClinGen TOPMed |
|
|
CA1200268 rs755528311 |
204 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA1200267 rs752053375 |
205 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA1200266 rs767026677 |
206 | I>N | No |
ClinGen ExAC gnomAD |
|
|
CA343290475 rs1311128276 |
206 | I>V | No |
ClinGen TOPMed |
|
|
CA31576835 rs1042329449 |
207 | S>F | No |
ClinGen TOPMed |
|
|
CA1200264 rs750803478 |
209 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs141360287 CA1200265 |
209 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs748539898 CA31576814 |
214 | D>H | No |
ClinGen gnomAD |
|
|
CA343290315 rs1249844665 |
215 | I>V | No |
ClinGen TOPMed |
|
|
CA1200224 rs765929958 |
216 | A>S | No |
ClinGen ExAC gnomAD |
|
|
COSM3705167 COSM1601113 rs765929958 CA1200223 |
216 | A>T | Variant assessed as Somatic; 0.0 impact. liver [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA1200222 rs371708588 |
217 | M>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs376462118 CA31576258 |
217 | M>V | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA1200221 rs200833169 |
220 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA31576249 rs377311585 |
220 | R>H | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1409104073 CA343290249 |
221 | T>A | No |
ClinGen TOPMed |
|
|
CA1200220 rs145496946 |
222 | H>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA343290202 rs1334361427 |
224 | T>I | No |
ClinGen gnomAD |
|
|
rs776610976 CA1200218 |
225 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1039371149 CA343290189 |
226 | L>M | No |
ClinGen TOPMed gnomAD |
|
|
CA1200217 rs201878319 |
229 | V>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA31576223 rs970896223 |
231 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
CA1200215 rs775871892 |
231 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA343290117 rs1370009751 |
232 | M>I | No |
ClinGen gnomAD |
|
|
rs771983112 CA1200214 |
232 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs1165653138 CA343290084 |
235 | L>M | No |
ClinGen gnomAD |
|
|
rs888196757 CA31576221 |
236 | L>H | No |
ClinGen TOPMed |
|
|
rs745994434 CA1200213 |
238 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA1200212 rs779242384 |
239 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA343290021 rs1262964566 |
241 | S>F | No |
ClinGen gnomAD |
|
|
CA343290028 rs1459025620 |
241 | S>P | No |
ClinGen TOPMed gnomAD |
|
|
CA343290017 rs1557971576 |
242 | S>P | No |
ClinGen Ensembl |
|
|
CA343290005 rs1205094315 |
243 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
CA1200210 rs749619938 |
246 | F>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA1200208 rs111581582 |
247 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs144013322 CA1200207 |
247 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA31576202 rs144013322 |
247 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA343289944 rs1557971512 |
248 | L>F | No |
ClinGen Ensembl |
|
|
CA1200206 rs144380911 |
248 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA31576187 rs763730932 |
249 | F>L | No |
ClinGen Ensembl |
|
|
CA1200205 rs749970627 |
249 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA1200203 rs765056389 |
250 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs1380480592 CA343289914 |
251 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
COSM3802510 CA1200201 COSM3802511 rs753673028 |
251 | R>I | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA1200200 rs763927197 |
252 | R>T | No |
ClinGen ExAC gnomAD |
|
|
rs760554693 CA1200199 |
253 | Q>K | No |
ClinGen ExAC |
|
|
rs1172568448 CA343289872 |
254 | G>A | No |
ClinGen TOPMed |
|
|
rs747139196 CA1200197 |
255 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs1476411617 CA343289859 |
255 | R>K | No |
ClinGen gnomAD |
|
|
rs1197006472 CA343289790 |
260 | G>C | No |
ClinGen TOPMed gnomAD |
|
|
CA343289750 rs1361037188 |
260 | G>D | No |
ClinGen TOPMed |
|
|
CA31575390 rs923214044 |
267 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA343289690 rs1442742753 |
269 | N>D | No |
ClinGen gnomAD |
|
|
rs947385320 CA31575387 |
269 | N>K | No |
ClinGen gnomAD |
|
|
CA31575388 rs1042917862 |
269 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1408425887 CA526837912 |
270 | P>* | No |
ClinGen gnomAD |
|
|
CA31575384 rs554051344 |
270 | P>A | No |
ClinGen 1000Genomes TOPMed |
|
|
rs1436967153 CA343289682 |
270 | P>L | No |
ClinGen TOPMed |
|
|
CA31575386 rs554051344 |
270 | P>T | No |
ClinGen 1000Genomes TOPMed |
|
|
rs1464071518 CA343289680 |
271 | Y>H | No |
ClinGen gnomAD |
|
|
CA31573993 rs199875386 |
272 | A>S | No |
ClinGen 1000Genomes gnomAD |
|
|
CA343289661 rs199875386 |
272 | A>T | No |
ClinGen 1000Genomes gnomAD |
|
|
CA343289659 rs1316063465 |
272 | A>V | No |
ClinGen gnomAD |
|
|
rs1281856490 CA343289656 |
273 | A>T | No |
ClinGen gnomAD |
|
|
CA1200148 COSM2085851 COSM2085852 rs765730754 |
275 | K>N | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
| TCGA novel | 277 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs777019598 CA1200146 |
278 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs912104476 CA31573963 |
279 | Y>H | No |
ClinGen TOPMed |
|
|
rs1291101663 CA343289609 |
280 | T>A | No |
ClinGen gnomAD |
|
|
CA343289607 rs1571347618 |
280 | T>I | No |
ClinGen Ensembl |
|
|
rs1345163876 CA343289592 |
282 | I>T | No |
ClinGen gnomAD |
|
|
rs551197323 CA1200145 |
283 | M>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs35467325 CA1200143 |
288 | T>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1571347596 CA343289554 |
288 | T>P | No |
ClinGen Ensembl |
|
|
rs35467325 CA1200144 |
288 | T>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs143879677 CA1200142 |
289 | Q>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs201735126 CA1200140 |
290 | P>L | No |
ClinGen 1000Genomes ExAC |
|
|
rs894050779 CA31573944 |
290 | P>T | No |
ClinGen gnomAD |
|
|
CA343289539 rs1198469262 |
291 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA31573929 rs1032762261 |
292 | E>Q | No |
ClinGen TOPMed |
|
|
rs1490685415 CA343289513 |
295 | I>V | No |
ClinGen TOPMed |
|
|
rs749323570 CA31573921 |
296 | Y>C | No |
ClinGen Ensembl |
|
|
rs1222634673 CA343289492 |
297 | D>E | No |
ClinGen TOPMed |
|
|
rs1485483330 CA343289497 |
297 | D>H | No |
ClinGen gnomAD |
|
|
rs1270206979 CA343289488 |
298 | E>A | No |
ClinGen TOPMed |
|
|
rs1261020346 CA343289461 |
302 | S>A | No |
ClinGen TOPMed gnomAD |
|
|
rs200118969 CA343289453 |
303 | K>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA343289457 rs1275044195 |
303 | K>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs200118969 CA1200137 |
303 | K>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs200118969 CA343289454 |
303 | K>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs1375046614 CA343289438 |
304 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA343289419 rs1407985997 |
306 | P>A | No |
ClinGen TOPMed |
|
|
CA343289401 rs1298403505 |
308 | K>E | No |
ClinGen gnomAD |
|
| TCGA novel | 308 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1200111 rs779883445 |
311 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA31572929 rs938795332 |
311 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA343289368 rs1377366348 |
312 | V>M | No |
ClinGen TOPMed |
|
|
rs879833119 CA31572900 |
313 | N>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1312491032 CA343289323 |
317 | S>F | No |
ClinGen TOPMed |
|
|
CA1200108 rs779139394 |
318 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA343289309 rs753916342 |
319 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA1200106 rs753916342 |
319 | V>G | No |
ClinGen ExAC gnomAD |
|
|
rs141238057 CA343289312 |
319 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs141238057 CA1200107 |
319 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA343289299 rs1178032646 |
320 | Q>H | No |
ClinGen gnomAD |
|
|
CA1200073 rs367883544 |
326 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA343289226 rs1277430707 |
328 | A>D | No |
ClinGen TOPMed |
|
|
CA343289220 rs771175990 |
329 | S>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771175990 CA1200071 |
329 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA31571068 rs989584172 |
330 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1445272823 CA343289210 |
331 | Q>* | No |
ClinGen gnomAD |
|
|
CA343289200 rs1367990076 |
332 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1185571977 CA343289194 |
333 | S>C | No |
ClinGen gnomAD |
|
|
rs959065890 CA31571066 |
334 | K>N | No |
ClinGen TOPMed |
|
|
CA31571055 rs1033619483 |
335 | P>S | No |
ClinGen TOPMed |
|
|
rs921150060 CA31571043 |
336 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA1200069 rs749408655 |
336 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA1200068 rs151207159 |
337 | G>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1293443992 CA343289164 |
338 | T>N | No |
ClinGen TOPMed gnomAD |
|
|
rs962713123 CA31571012 |
342 | E>Q | No |
ClinGen Ensembl |
|
|
rs781758533 CA1200065 |
343 | I>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs145223854 CA1200064 |
343 | I>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA343289131 rs781758533 |
343 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751967552 CA1200063 |
346 | I>Q | No |
ClinGen ExAC gnomAD |
|
|
CA343289108 rs1397830545 |
346 | I>Y | No |
ClinGen TOPMed gnomAD |
No associated diseases with Q9UIB8
8 regional properties for Q9UIB8
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Oxidoreductase FAD/NAD(P)-binding | 181 - 288 | IPR001433 |
| domain | Flavoprotein pyridine nucleotide cytochrome reductase | 96 - 103 | IPR001709-1 |
| domain | Flavoprotein pyridine nucleotide cytochrome reductase | 128 - 137 | IPR001709-2 |
| domain | Flavoprotein pyridine nucleotide cytochrome reductase | 180 - 199 | IPR001709-3 |
| domain | Flavoprotein pyridine nucleotide cytochrome reductase | 218 - 229 | IPR001709-4 |
| domain | Flavoprotein pyridine nucleotide cytochrome reductase | 274 - 282 | IPR001709-5 |
| domain | Flavoprotein pyridine nucleotide cytochrome reductase-like, FAD-binding domain | 49 - 155 | IPR008333 |
| domain | FAD-binding domain, ferredoxin reductase-type | 44 - 156 | IPR017927 |
4 GO annotations of cellular component
| Name | Definition |
|---|---|
| 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. |
| 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. |
| 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. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
1 GO annotations of molecular function
| Name | Definition |
|---|---|
| identical protein binding | Binding to an identical protein or proteins. |
15 GO annotations of biological process
| Name | Definition |
|---|---|
| adaptive immune response | An immune response mediated by cells expressing specific receptors for antigen produced through a somatic diversification process, and allowing for an enhanced secondary response to subsequent exposures to the same antigen (immunological memory). |
| autophagy | The cellular catabolic process in which cells digest parts of their own cytoplasm; allows for both recycling of macromolecular constituents under conditions of cellular stress and remodeling the intracellular structure for cell differentiation. |
| defense response | Reactions, triggered in response to the presence of a foreign body or the occurrence of an injury, which result in restriction of damage to the organism attacked or prevention/recovery from the infection caused by the attack. |
| homophilic cell adhesion via plasma membrane adhesion molecules | The attachment of a plasma membrane adhesion molecule in one cell to an identical molecule in an adjacent cell. |
| innate immune response | Innate immune responses are defense responses mediated by germline encoded components that directly recognize components of potential pathogens. |
| negative regulation of granulocyte macrophage colony-stimulating factor production | Any process that stops, prevents, or reduces the frequency, rate, or extent of granulocyte macrophage colony-stimulating factor production. |
| negative regulation of interleukin-18 production | Any process that stops, prevents, or reduces the frequency, rate, or extent of interleukin-18 production. |
| negative regulation of interleukin-6 production | Any process that stops, prevents, or reduces the frequency, rate, or extent of interleukin-6 production. |
| negative regulation of mast cell activation | Any process that stops, prevents, or reduces the frequency, rate, or extent of mast cell activation. |
| negative regulation of mast cell degranulation | Any process that stops, prevents, or reduces the rate of mast cell degranulation. |
| positive regulation of monocyte chemotactic protein-1 production | Any process that activates or increases the frequency, rate, or extent of production of monocyte chemotactic protein-1. |
| positive regulation of tumor necrosis factor production | Any process that activates or increases the frequency, rate or extent of tumor necrosis factor production. |
| regulation of macrophage activation | Any process that modulates the frequency or rate of macrophage activation. |
| regulation of store-operated calcium entry | Any process that modulates the frequency, rate or extent of store-operated calcium entry. |
| T cell activation | The change in morphology and behavior of a mature or immature T cell resulting from exposure to a mitogen, cytokine, chemokine, cellular ligand, or an antigen for which it is specific. |
1 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q9QUM4 | Slamf1 | Signaling lymphocytic activation molecule | Mus musculus (Mouse) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MAQHHLWILL | LCLQTWPEAA | GKDSEIFTVN | GILGESVTFP | VNIQEPRQVK | IIAWTSKTSV |
| 70 | 80 | 90 | 100 | 110 | 120 |
| AYVTPGDSET | APVVTVTHRN | YYERIHALGP | NYNLVISDLR | MEDAGDYKAD | INTQADPYTT |
| 130 | 140 | 150 | 160 | 170 | 180 |
| TKRYNLQIYR | RLGKPKITQS | LMASVNSTCN | VTLTCSVEKE | EKNVTYNWSP | LGEEGNVLQI |
| 190 | 200 | 210 | 220 | 230 | 240 |
| FQTPEDQELT | YTCTAQNPVS | NNSDSISARQ | LCADIAMGFR | THHTGLLSVL | AMFFLLVLIL |
| 250 | 260 | 270 | 280 | 290 | 300 |
| SSVFLFRLFK | RRQGRIFPEG | SCLNTFTKNP | YAASKKTIYT | YIMASRNTQP | AESRIYDEIL |
| 310 | 320 | 330 | 340 | ||
| QSKVLPSKEE | PVNTVYSEVQ | FADKMGKAST | QDSKPPGTSS | YEIVI |