Q96CS3
Gene name |
FAF2 (ETEA, KIAA0887, UBXD8, UBXN3B) |
Protein name |
FAS-associated factor 2 |
Names |
Protein ETEA, UBX domain-containing protein 3B, UBX domain-containing protein 8 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:23197 |
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 Q96CS3
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 2DAM | NMR | - | A | 3-56 | PDB |
| AF-Q96CS3-F1 | Predicted | AlphaFoldDB |
237 variants for Q96CS3
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA3568963 rs776471303 |
3 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs983347112 CA131850646 |
4 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA362252604 rs1390137958 |
4 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs907645195 CA131850679 |
5 | E>A | No |
ClinGen TOPMed gnomAD |
|
|
rs184408647 CA3568966 COSM3827722 |
5 | E>Q | breast [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC gnomAD |
|
CA362252613 rs1485168165 |
6 | E>K | No |
ClinGen TOPMed |
|
|
CA131850684 rs1039105017 |
7 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
rs754985150 CA3568967 |
7 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs767687577 CA3568968 |
8 | D>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA362252624 rs1235943809 |
8 | D>N | No |
ClinGen TOPMed |
|
|
rs767687577 CA3568969 |
8 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1235943809 CA362252626 |
8 | D>Y | No |
ClinGen TOPMed |
|
|
CA3568971 rs778429472 |
14 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA362252669 rs778429472 |
14 | T>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 15 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA131838103 rs939662951 |
23 | L>F | No |
ClinGen Ensembl |
|
|
CA362252409 rs1363891196 |
24 | T>A | No |
ClinGen gnomAD |
|
|
CA362252443 rs1219868986 |
29 | M>V | No |
ClinGen TOPMed |
|
|
rs1305619269 CA362252464 |
31 | Q>L | No |
ClinGen gnomAD |
|
|
rs1397413497 CA362252477 |
33 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
rs757529894 CA3568990 |
33 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs757529894 CA362252479 |
33 | R>L | No |
ClinGen ExAC gnomAD |
|
|
rs199533667 CA131838112 |
41 | W>R | No |
ClinGen 1000Genomes |
|
|
CA131838120 rs112214756 |
42 | N>S | No |
ClinGen 1000Genomes |
|
|
CA362253680 rs1255000033 |
47 | V>A | No |
ClinGen gnomAD |
|
|
rs1476857030 CA362253775 |
53 | E>Q | No |
ClinGen TOPMed |
|
|
rs540774262 CA3569014 |
54 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3569015 rs377291257 |
55 | E>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 55 | E>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA362253830 rs1461643391 |
56 | G>A | No |
ClinGen gnomAD |
|
|
CA131843320 rs745836730 |
56 | G>S | No |
ClinGen Ensembl |
|
|
rs568519297 CA3569016 |
57 | V>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1207051339 CA362253863 |
59 | S>T | No |
ClinGen TOPMed |
|
| TCGA novel | 60 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs369828433 CA3569017 |
62 | N>S | No |
ClinGen ESP ExAC gnomAD |
|
|
CA3569019 rs756015233 |
63 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs748033981 CA362253912 |
63 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs748033981 CA3569018 |
63 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA3569020 rs373205789 |
65 | P>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 65 | P>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3569021 rs749063074 |
67 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA3569022 rs770880318 |
68 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA362253937 rs887334059 |
68 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA131843349 rs887334059 |
68 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
rs376132848 CA3569023 |
71 | V>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 72 | N>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA362254003 rs1252469805 |
75 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
CA3569024 rs747282337 |
76 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1180564744 CA362254036 |
77 | R>S | No |
ClinGen gnomAD |
|
|
rs1251584875 CA362254112 |
83 | V>G | No |
ClinGen gnomAD |
|
|
CA131843368 rs1048151912 |
88 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA362254172 rs1475711354 |
88 | P>S | No |
ClinGen gnomAD |
|
|
rs1421057704 CA362254480 |
94 | W>C | No |
ClinGen gnomAD |
|
|
CA3569039 rs749223653 |
94 | W>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 96 | Y>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3569040 rs757095949 |
97 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs1188129424 CA362254507 |
98 | L>F | No |
ClinGen TOPMed |
|
|
rs148685647 CA3569042 |
101 | L>F | No |
ClinGen ESP ExAC gnomAD |
|
|
CA362254531 rs1436420854 |
102 | P>A | No |
ClinGen gnomAD |
|
|
CA3569043 rs768929958 |
103 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA362254545 rs1447612657 |
104 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA362254544 rs1358292679 |
104 | R>W | No |
ClinGen gnomAD |
|
|
CA362254560 rs889775618 |
106 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA131844974 rs889775618 |
106 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
CA131844987 rs201122100 |
108 | Y>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA3569045 rs201122100 |
108 | Y>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs769791069 CA3569046 |
109 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA362254581 rs1237062771 |
110 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs766728205 CA3569049 |
112 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs896183293 CA131845031 |
112 | D>V | No |
ClinGen Ensembl |
|
|
CA3569050 rs774634955 |
113 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1253115470 CA362254989 |
115 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
CA3569068 rs759854470 |
117 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA362255021 rs1196731224 |
118 | L>V | No |
ClinGen gnomAD |
|
|
rs151193681 CA3569069 |
119 | R>C | No |
ClinGen ESP ExAC gnomAD |
|
|
CA3569070 rs775185443 |
121 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs1409413703 CA362255076 |
122 | R>Q | No |
ClinGen gnomAD |
|
|
rs760301855 CA3569071 |
122 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA3569072 rs570905420 |
123 | P>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA362255087 rs1170425831 |
123 | P>L | No |
ClinGen TOPMed |
|
|
rs1395381402 CA362255098 |
124 | D>A | No |
ClinGen gnomAD |
|
|
CA131847528 rs889600959 |
124 | D>E | No |
ClinGen Ensembl |
|
|
rs1158649246 CA362255092 |
124 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1158649246 CA362255096 |
124 | D>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA3569073 rs537989395 |
125 | P>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1322222279 CA362255124 |
126 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
rs761418261 CA3569074 |
126 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA362255125 rs1322222279 |
126 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
CA131847534 rs573108149 |
127 | S>N | No |
ClinGen Ensembl |
|
|
CA3569076 rs374491360 |
128 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3569075 rs780495626 |
128 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs758178266 CA3569077 |
132 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758178266 CA3569078 |
132 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758178266 CA362255201 |
132 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA362255218 rs777987739 |
133 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA3569081 rs777987739 |
133 | V>D | No |
ClinGen ExAC gnomAD |
|
|
CA3569080 rs371906699 COSM1066025 |
133 | V>I | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs779362292 CA3569084 |
135 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA3569085 rs746424695 |
136 | I>L | No |
ClinGen ExAC gnomAD |
|
|
rs746424695 CA131847625 |
136 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs780648244 CA131847629 |
138 | S>* | No |
ClinGen Ensembl |
|
|
rs1249381416 CA362255303 |
140 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
CA3569086 rs201034835 |
141 | H>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA362255339 rs1418847753 |
142 | S>A | No |
ClinGen gnomAD |
|
|
rs376749446 CA3569088 |
143 | F>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA362255391 rs1161549039 |
145 | E>G | No |
ClinGen gnomAD |
|
|
rs768132377 CA3569089 |
147 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA362255483 rs1411047163 |
151 | H>Q | No |
ClinGen gnomAD |
|
|
CA362255499 rs1309693028 |
153 | V>I | No |
ClinGen TOPMed |
|
|
CA131847667 rs989727660 |
154 | F>L | No |
ClinGen Ensembl |
|
|
CA3569090 rs776443458 |
158 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 158 | T>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA362255612 rs1293600993 |
160 | S>I | No |
ClinGen gnomAD |
|
|
CA3569108 rs747848226 |
162 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs769428480 CA362255821 |
165 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs769428480 CA3569109 |
165 | D>Y | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 166 | A>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3569110 rs772785870 |
166 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs370200300 CA3569112 |
171 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs146584253 COSM208227 CA3569113 |
171 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA3569115 rs767349389 |
173 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs754047046 CA3569116 |
174 | L>S | No |
ClinGen ExAC gnomAD |
|
|
CA362255980 rs1171705627 |
180 | D>Y | No |
ClinGen gnomAD |
|
|
CA3569118 rs765448279 |
181 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 181 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs757541270 CA3569117 |
181 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs1483076029 CA362256049 |
186 | D>E | No |
ClinGen TOPMed |
|
|
CA131849109 rs764781605 |
186 | D>H | No |
ClinGen Ensembl |
|
|
CA3569120 rs758524390 |
190 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA3569121 rs529401341 |
190 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3569139 rs533186330 |
196 | P>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA362256259 rs1157960548 |
197 | E>D | No |
ClinGen TOPMed |
|
|
COSM1436149 CA362256358 rs1487796944 |
205 | R>G | large_intestine [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs765393266 CA3569140 |
206 | M>L | No |
ClinGen ExAC gnomAD |
|
|
rs765393266 CA362256371 |
206 | M>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 207 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs750686615 CA362256417 |
208 | F>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 212 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 212 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3569144 rs751992903 |
213 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA3569145 rs755480159 |
214 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA362256508 rs1387141071 |
214 | N>K | No |
ClinGen TOPMed |
|
|
rs1347543264 CA362256516 |
215 | K>R | No |
ClinGen gnomAD |
|
|
CA3569146 rs781769041 |
216 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 217 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA362256575 rs1298629040 |
220 | R>K | No |
ClinGen TOPMed gnomAD |
|
|
CA3569147 rs753065295 |
220 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA131850683 rs921845026 |
221 | V>A | No |
ClinGen gnomAD |
|
|
rs1377122692 CA362256993 |
224 | A>D | No |
ClinGen gnomAD |
|
|
CA362257006 rs573849710 |
226 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3569168 rs573849710 |
226 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 234 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA362257083 rs1466537086 |
237 | M>T | No |
ClinGen TOPMed |
|
| TCGA novel | 241 | R>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3569170 rs756865348 |
241 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA131850730 rs541320714 |
245 | V>M | No |
ClinGen 1000Genomes gnomAD |
|
|
CA3569172 rs745332596 |
248 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA131850740 rs372894255 |
248 | R>W | No |
ClinGen ESP gnomAD |
|
|
rs1193855541 CA362257163 |
250 | E>G | No |
ClinGen TOPMed |
|
|
rs761529678 CA3569178 |
257 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs776553380 CA3569177 |
257 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs911704438 CA131850763 |
266 | M>T | No |
ClinGen Ensembl |
|
|
rs1227307624 CA362257269 |
266 | M>V | No |
ClinGen gnomAD |
|
|
rs774749275 CA3569180 |
267 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs369170772 CA3569179 |
267 | D>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs759660914 CA3569181 |
268 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs138735701 CA3569182 |
271 | T>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1297481128 CA362257308 |
271 | T>I | No |
ClinGen gnomAD |
|
|
rs761333742 CA3569184 |
273 | L>M | No |
ClinGen ExAC gnomAD |
|
|
rs1199929603 CA362257325 |
274 | V>A | No |
ClinGen gnomAD |
|
|
rs969542467 CA131850810 |
274 | V>L | No |
ClinGen TOPMed |
|
|
rs764514819 CA3569185 |
275 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs533529925 CA131850818 |
275 | S>T | No |
ClinGen gnomAD |
|
|
CA3569188 rs757583095 |
277 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3569187 rs757583095 |
277 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA362257772 rs1450703301 |
282 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1450703301 CA362257773 |
282 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1183215058 CA362257783 |
283 | R>I | No |
ClinGen gnomAD |
|
|
rs765635151 CA3569210 CA3569209 |
284 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA362257817 rs1471683936 |
288 | V>L | No |
ClinGen gnomAD |
|
|
CA3569211 rs758111411 |
291 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA362257881 rs1581075269 |
297 | Y>S | No |
ClinGen Ensembl |
|
| TCGA novel | 300 | S>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs866757023 CA362257912 |
302 | R>I | No |
ClinGen gnomAD |
|
|
rs866757023 CA131852996 |
302 | R>K | No |
ClinGen gnomAD |
|
|
rs925574407 CA131853011 |
306 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
CA3569220 rs777778262 |
312 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA3569221 rs772364209 |
312 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA3569219 rs777778262 |
312 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs750266109 CA3569223 |
315 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3569222 rs780444729 COSM1066026 |
315 | R>W | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA362258014 rs1385146386 |
317 | R>C | No |
ClinGen gnomAD |
|
|
CA3569224 rs768657662 |
317 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA362258021 rs1399706948 |
318 | K>T | No |
ClinGen TOPMed |
|
|
CA3569225 rs200471156 |
319 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs755730334 CA131853052 |
319 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
CA362258030 rs1334374077 |
320 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1341787254 CA362258035 |
321 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1341787254 CA362258033 |
321 | K>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1445168511 CA362258049 |
323 | E>K | No |
ClinGen gnomAD |
|
|
CA362258067 rs1314365442 |
325 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
CA362258084 rs1230472257 |
327 | Q>R | No |
ClinGen gnomAD |
|
| TCGA novel | 333 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1209738017 CA362258132 |
334 | R>G | No |
ClinGen TOPMed |
|
|
rs765978756 CA3569230 |
336 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA3569229 rs143992325 |
336 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3569231 rs751214973 |
337 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs1266751651 CA362258151 |
337 | Q>R | No |
ClinGen TOPMed |
|
|
CA3569250 rs767203421 |
345 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA362258239 rs922684538 |
347 | L>S | No |
ClinGen TOPMed |
|
|
CA131853857 rs922684538 |
347 | L>W | No |
ClinGen TOPMed |
|
|
rs752092758 CA3569251 |
349 | C>G | No |
ClinGen ExAC gnomAD |
|
|
rs760022482 CA362258269 |
352 | P>A | No |
ClinGen Ensembl |
|
|
CA131853895 rs760022482 |
352 | P>S | No |
ClinGen Ensembl |
|
|
rs1401130351 CA362258287 |
355 | S>T | No |
ClinGen gnomAD |
|
|
CA362258330 rs1282844033 |
361 | S>G | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 361 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA362258359 rs1581075885 |
365 | I>V | No |
ClinGen Ensembl |
|
|
CA3569254 rs753865513 |
367 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA362258416 rs1210656384 |
373 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1216935239 CA362258442 |
377 | R>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 381 | S>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3569257 rs767343185 |
382 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs756176397 CA3569281 |
388 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
COSM1205989 CA3569283 rs749374860 |
389 | D>N | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA362259240 rs1426139219 |
393 | S>C | No |
ClinGen gnomAD |
|
| TCGA novel | 400 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA131864594 rs1028677538 |
406 | N>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA3569286 rs746180663 |
410 | R>Q | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 421 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA131864607 rs986131968 |
423 | P>H | No |
ClinGen TOPMed |
|
|
COSM1205988 CA362259608 rs1275831883 |
425 | T>M | large_intestine [Cosmic] | No |
ClinGen cosmic curated gnomAD |
| TCGA novel | 427 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA362259812 rs1240652014 |
444 | D>V | No |
ClinGen gnomAD |
|
|
CA362259819 rs765033847 |
445 | E>* | No |
ClinGen ExAC gnomAD |
|
|
CA3569293 rs765033847 |
445 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs763262139 CA131864671 |
446 | E>G | No |
ClinGen Ensembl |
No associated diseases with Q96CS3
5 GO annotations of cellular component
| Name | Definition |
|---|---|
| azurophil granule lumen | The volume enclosed by the membrane of an azurophil granule, a primary lysosomal granule found in neutrophil granulocytes that contains a wide range of hydrolytic enzymes and is released into the extracellular fluid. |
| endoplasmic reticulum | The irregular network of unit membranes, visible only by electron microscopy, that occurs in the cytoplasm of many eukaryotic cells. The membranes form a complex meshwork of tubular channels, which are often expanded into slitlike cavities called cisternae. The ER takes two forms, rough (or granular), with ribosomes adhering to the outer surface, and smooth (with no ribosomes attached). |
| extracellular region | The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite. |
| lipid droplet | An intracellular non-membrane-bounded organelle comprising a matrix of coalesced lipids surrounded by a phospholipid monolayer. May include associated proteins. |
| VCP-NPL4-UFD1 AAA ATPase complex | A multiprotein ATPase complex required for the efficient dislocation of ER-lumenal degradation substrates, and their subsequent proteolysis by the proteasome. In budding yeast, this complex includes Cdc48p, Npl4p and Ufd1p proteins. In mammals, this complex includes a hexamer of VCP/p97 (a cytosolic ATPase) and trimers of each of its cofactors UFD1L and NPL4 (NPLOC4) (e.g. a 6:3:3 stoichiometry). |
4 GO annotations of molecular function
| Name | Definition |
|---|---|
| lipase binding | Binding to a lipase. |
| lipase inhibitor activity | Binds to and stops, prevents or reduces the activity of a lipase, an enzyme that catalyzes of the hydrolysis of a lipid. |
| ubiquitin binding | Binding to ubiquitin, a protein that when covalently bound to other cellular proteins marks them for proteolytic degradation. |
| ubiquitin protein ligase binding | Binding to a ubiquitin protein ligase enzyme, any of the E3 proteins. |
4 GO annotations of biological process
| Name | Definition |
|---|---|
| lipid droplet organization | A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of a lipid particle. |
| response to unfolded protein | Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an unfolded protein stimulus. |
| retrograde protein transport, ER to cytosol | The directed movement of unfolded or misfolded proteins from the endoplasmic reticulum to the cytosol through the translocon. |
| ubiquitin-dependent ERAD pathway | The series of steps necessary to target endoplasmic reticulum (ER)-resident proteins for degradation by the cytoplasmic proteasome. Begins with recognition of the ER-resident protein, includes retrotranslocation (dislocation) of the protein from the ER to the cytosol, protein ubiquitination necessary for correct substrate transfer, transport of the protein to the proteasome, and ends with degradation of the protein by the cytoplasmic proteasome. |
4 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q04228 | UBX2 | UBX domain-containing protein 2 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast) | PR |
| Q12229 | UBX3 | UBX domain-containing protein 3 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast) | PR |
| Q96LJ8 | UBXN10 | UBX domain-containing protein 10 | Homo sapiens (Human) | PR |
| Q3TDN2 | Faf2 | FAS-associated factor 2 | Mus musculus (Mouse) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MAAPEERDLT | QEQTEKLLQF | QDLTGIESMD | QCRHTLEQHN | WNIEAAVQDR | LNEQEGVPSV |
| 70 | 80 | 90 | 100 | 110 | 120 |
| FNPPPSRPLQ | VNTADHRIYS | YVVSRPQPRG | LLGWGYYLIM | LPFRFTYYTI | LDIFRFALRF |
| 130 | 140 | 150 | 160 | 170 | 180 |
| IRPDPRSRVT | DPVGDIVSFM | HSFEEKYGRA | HPVFYQGTYS | QALNDAKREL | RFLLVYLHGD |
| 190 | 200 | 210 | 220 | 230 | 240 |
| DHQDSDEFCR | NTLCAPEVIS | LINTRMLFWA | CSTNKPEGYR | VSQALRENTY | PFLAMIMLKD |
| 250 | 260 | 270 | 280 | 290 | 300 |
| RRMTVVGRLE | GLIQPDDLIN | QLTFIMDANQ | TYLVSERLER | EERNQTQVLR | QQQDEAYLAS |
| 310 | 320 | 330 | 340 | 350 | 360 |
| LRADQEKERK | KREERERKRR | KEEEVQQQKL | AEERRRQNLQ | EEKERKLECL | PPEPSPDDPE |
| 370 | 380 | 390 | 400 | 410 | 420 |
| SVKIIFKLPN | DSRVERRFHF | SQSLTVIHDF | LFSLKESPEK | FQIEANFPRR | VLPCIPSEEW |
| 430 | 440 | ||||
| PNPPTLQEAG | LSHTEVLFVQ | DLTDE |