O75995
Gene name |
SASH3 (CXorf9, SLY) |
Protein name |
SAM and SH3 domain-containing protein 3 |
Names |
SH3 protein expressed in lymphocytes homolog |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:54440 |
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 O75995
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-O75995-F1 | Predicted | AlphaFoldDB |
196 variants for O75995
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
| VAR_087463 | 169 | Q>del | IMD102; loss of protein expression [UniProt] | Yes | UniProt |
| VAR_087464 | 245 | R>del | IMD102; loss of protein expression; patient T cells show decreased proliferation and cell cycle progression and increased apoptosis; functional signaling defects of the T cell receptor [UniProt] | Yes | UniProt |
| VAR_087465 | 288 | R>del | IMD102; loss of protein expression; patient T cells show decreased proliferation and cell cycle progression and increased apoptosis; functional signaling defects of the T cell receptor [UniProt] | Yes | UniProt |
| VAR_087466 | 347 | R>C | IMD102; decreased protein abundance; patient T cells show decreased proliferation and cell cycle progression and increased apoptosis; functional signaling defects of the T cell receptor [UniProt] | Yes | UniProt |
|
rs368987935 CA10513143 |
3 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA gnomAD |
|
CA10513144 rs150610485 |
3 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs749177330 CA335077848 |
4 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749177330 CA10513146 |
4 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768613358 CA10513147 |
4 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 5 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs201637179 CA10513148 |
9 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 12 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs761610241 CA10513149 |
13 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs375209867 CA335077861 |
15 | T>I | No |
ClinGen TOPMed |
|
|
rs771742601 CA10513150 |
16 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 17 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 20 | L>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1184278025 CA414558166 |
25 | S>C | No |
ClinGen gnomAD |
|
|
rs747933532 CA10513166 |
32 | A>D | No |
ClinGen ExAC |
|
|
CA335082213 rs1024540394 |
32 | A>T | No |
ClinGen Ensembl |
|
|
rs1478025381 CA414558279 |
34 | S>F | No |
ClinGen TOPMed |
|
| TCGA novel | 38 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1602928141 CA414558308 |
39 | P>T | No |
ClinGen Ensembl |
|
|
CA10513167 rs771809544 |
40 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 40 | V>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1174652867 CA414558321 |
41 | V>M | No |
ClinGen gnomAD |
|
|
rs1602928160 CA414558329 |
42 | S>I | No |
ClinGen Ensembl |
|
| TCGA novel | 43 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1428400431 CA414558333 |
43 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
| TCGA novel | 45 | E>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA414558350 rs1602928192 |
45 | E>* | No |
ClinGen Ensembl |
|
|
rs1216818411 CA414558373 |
48 | L>M | No |
ClinGen TOPMed |
|
| TCGA novel | 49 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA414558398 rs1321217392 |
51 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1188003459 CA414559714 |
54 | E>D | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 57 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1327445207 CA414559794 |
60 | P>S | No |
ClinGen gnomAD |
|
|
CA414559807 rs1293367501 |
61 | T>P | No |
ClinGen TOPMed |
|
|
rs777364769 CA10513189 |
64 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA414559896 rs1405870549 |
65 | A>D | No |
ClinGen TOPMed |
|
|
CA335082631 rs367931250 |
65 | A>T | No |
ClinGen ESP |
|
| TCGA novel | 71 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA414560063 rs1437178764 |
73 | G>R | No |
ClinGen gnomAD |
|
|
CA414560165 rs1363923890 |
77 | R>K | No |
ClinGen TOPMed |
|
|
rs375620085 CA335082640 |
78 | A>V | No |
ClinGen ESP TOPMed |
|
|
CA414560248 rs1431433144 |
82 | R>* | No |
ClinGen TOPMed |
|
|
rs745337836 CA10513193 |
82 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA10513194 COSM1114889 rs779253669 |
84 | M>I | endometrium [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA10513195 COSM3800396 rs775165842 |
91 | M>T | Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs763333259 CA10513196 |
92 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA10513197 rs146852075 |
93 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1314045772 CA414560461 |
94 | K>E | No |
ClinGen gnomAD |
|
|
rs1185978448 CA414560479 |
95 | A>S | No |
ClinGen gnomAD |
|
| TCGA novel | 95 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs774521851 CA10513198 |
97 | S>T | No |
ClinGen ExAC |
|
|
rs1475227008 CA414560570 |
100 | M>T | No |
ClinGen gnomAD |
|
|
CA414561003 rs1189430471 |
105 | E>G | No |
ClinGen gnomAD |
|
|
CA10513215 rs748844612 |
106 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1159302727 CA414561027 |
107 | G>S | No |
ClinGen gnomAD |
|
|
CA335084516 rs745609258 |
111 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1390684699 CA414561137 |
114 | P>A | No |
ClinGen TOPMed |
|
|
CA414561151 rs1164381774 |
114 | P>L | No |
ClinGen TOPMed |
|
| TCGA novel | 119 | D>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 119 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1158883108 CA414561442 |
123 | P>L | No |
ClinGen TOPMed |
|
|
rs760819411 CA10513221 |
124 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766601056 CA10513222 |
127 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA335084591 rs895315649 |
130 | F>V | No |
ClinGen TOPMed |
|
|
CA414561770 rs1319147599 |
133 | Q>E | No |
ClinGen gnomAD |
|
|
CA414561772 rs1232523286 |
133 | Q>P | No |
ClinGen gnomAD |
|
|
CA10513225 rs140642583 |
134 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs150062353 CA10513226 |
139 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA414562015 rs1267266415 |
140 | V>A | No |
ClinGen TOPMed |
|
|
CA10513228 rs781096781 |
140 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10513229 rs200310644 |
141 | L>F | No |
ClinGen 1000Genomes ExAC |
|
|
rs755774478 CA10513230 |
141 | L>P | No |
ClinGen ExAC |
|
| TCGA novel | 141 | L>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 142 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA414562039 rs1479996252 |
142 | S>R | No |
ClinGen gnomAD |
|
|
rs771879917 CA10513231 |
143 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10513232 rs758842379 |
143 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs768254513 CA10513233 |
144 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA10513234 rs779266982 |
145 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1166590256 CA414562153 |
146 | S>L | No |
ClinGen gnomAD |
|
|
rs772570347 CA10513236 |
147 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA10513235 rs748612209 |
147 | T>S | No |
ClinGen ExAC |
|
|
CA414562181 rs1461520484 |
148 | G>S | No |
ClinGen gnomAD |
|
| TCGA novel | 151 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA414562450 rs1268978699 |
152 | C>* | No |
ClinGen gnomAD |
|
|
CA335085356 rs199679124 |
153 | S>N | No |
ClinGen 1000Genomes |
|
|
CA10513251 rs369974398 |
155 | S>N | No |
ClinGen ESP ExAC gnomAD |
|
|
COSM1682877 CA10513252 rs747669832 |
156 | P>S | skin [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA10513253 CA10513254 rs776424343 |
162 | G>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA10513256 rs373024115 |
164 | E>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA414562672 rs1469690801 |
165 | P>L | No |
ClinGen gnomAD |
|
| TCGA novel | 166 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10513257 COSM213049 rs149215914 |
166 | P>S | Variant assessed as Somatic; impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA |
|
CA414562722 rs1227995573 |
168 | P>L | No |
ClinGen TOPMed |
|
|
CA10513260 rs775657175 |
169 | Q>H | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 169 | Q>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 172 | G>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs763187338 CA10513261 |
174 | F>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1188139924 CA414562885 |
177 | R>Q | No |
ClinGen gnomAD |
|
|
rs900176699 CA335085405 |
179 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA335085416 rs1049213114 |
182 | T>A | No |
ClinGen Ensembl |
|
|
CA10513264 rs760525860 |
183 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 185 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1602931863 CA414563047 |
186 | P>S | No |
ClinGen Ensembl |
|
|
rs753577551 CA414563131 |
189 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
rs1432141495 CA414563163 |
191 | H>Q | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 192 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10513267 rs754599102 |
193 | S>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 196 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs868594208 CA335085554 |
198 | K>E | No |
ClinGen Ensembl |
|
| TCGA novel | 199 | G>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA335085565 rs967959753 |
199 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA414565786 rs1231102806 |
207 | K>E | No |
ClinGen TOPMed |
|
|
rs1444165550 CA414565861 |
209 | P>S | No |
ClinGen gnomAD |
|
|
rs1331067659 CA414565981 |
212 | T>M | No |
ClinGen TOPMed |
|
| TCGA novel | 214 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1232497430 CA414566133 |
217 | L>I | No |
ClinGen gnomAD |
|
|
CA10513287 rs746630084 |
221 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 226 | F>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA414566663 rs1393586292 |
231 | V>E | No |
ClinGen gnomAD |
|
|
CA335085601 rs1031439816 |
231 | V>M | No |
ClinGen TOPMed |
|
|
rs1407680518 CA414566851 |
237 | V>A | No |
ClinGen gnomAD |
|
|
CA10513290 rs200789186 |
237 | V>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA414566884 rs1397036940 |
239 | H>N | No |
ClinGen TOPMed gnomAD |
|
|
rs757728623 CA10513291 |
239 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
rs2231131 CA10513292 |
240 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA414566947 rs1444194777 |
241 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1444194777 CA414566945 |
241 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
CA10513293 rs750800867 COSM284790 |
241 | R>H | kidney Variant assessed as Somatic; 0.0 impact. large_intestine [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
RCV000906380 CA10513294 rs147976313 |
244 | R>C | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA10513295 rs751943834 |
244 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA414567047 rs751943834 |
244 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA10513296 rs35096611 |
245 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 252 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs975557861 CA335085708 |
252 | P>R | No |
ClinGen Ensembl |
|
|
CA10513300 rs770896257 |
258 | H>P | No |
ClinGen ExAC gnomAD |
|
|
rs920145333 CA335085722 |
258 | H>Y | No |
ClinGen Ensembl |
|
|
CA10513301 rs776473635 |
263 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759348769 CA10513302 |
263 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA10513304 rs145839385 |
265 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA335085901 COSM72538 rs1044927153 |
270 | T>I | ovary Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
rs755236916 CA10513315 |
273 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10513318 rs758452425 |
286 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA10513319 rs777927882 COSM1114892 |
288 | R>Q | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA414569059 rs1318843175 |
289 | E>D | No |
ClinGen gnomAD |
|
|
rs1213036765 CA414569102 |
290 | T>I | No |
ClinGen TOPMed |
|
|
rs138840040 CA335085927 CA10513320 |
291 | H>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 292 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA414569213 rs1401898927 |
293 | N>S | No |
ClinGen gnomAD |
|
|
rs868200701 CA335085928 |
298 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
CA335085941 rs1030989164 |
302 | H>Q | No |
ClinGen Ensembl |
|
|
CA10513323 rs749142379 |
303 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
RCV000413458 rs1057518320 |
305 | K>missing | No |
ClinVar dbSNP |
|
| TCGA novel | 306 | L>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs773919719 COSM1114893 CA10513325 |
308 | T>M | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA335086010 rs866985797 |
309 | A>T | No |
ClinGen Ensembl |
|
|
rs772811145 CA10513328 |
310 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA414569946 rs1452744185 |
311 | E>* | No |
ClinGen gnomAD |
|
|
rs1452744185 CA414569935 |
311 | E>K | No |
ClinGen gnomAD |
|
|
rs1210922686 CA414570520 |
320 | S>C | No |
ClinGen TOPMed |
|
|
CA414570549 rs1379517201 |
320 | S>N | No |
ClinGen gnomAD |
|
| TCGA novel | 322 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs896586967 CA335086223 |
325 | E>Q | No |
ClinGen TOPMed |
|
|
CA10513356 rs138105032 |
327 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA10513358 rs754943660 |
329 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1569313803 CA414571046 |
331 | Q>P | No |
ClinGen Ensembl |
|
|
rs1000983863 CA335086272 |
332 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA10513359 rs778508257 |
333 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA414571152 rs1239797370 COSM1224695 |
334 | V>M | large_intestine [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA10513360 rs747991939 |
336 | H>Q | No |
ClinGen ExAC |
|
|
CA10513362 rs149530194 |
339 | S>L | No |
ClinGen ESP ExAC |
|
|
rs776311788 CA10513366 |
340 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs758514745 CA10513368 |
341 | P>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1332251707 CA414571461 |
343 | V>M | No |
ClinGen gnomAD |
|
|
rs1374058569 CA414571608 |
346 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA414571628 rs1439129682 |
347 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs762045557 CA10513373 |
355 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10513372 rs751829685 |
355 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10513376 rs754816732 |
358 | G>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 359 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA414572099 rs1480881072 |
359 | R>H | No |
ClinGen TOPMed |
|
|
rs752401302 CA10513378 |
360 | D>G | No |
ClinGen ExAC |
|
|
CA414572124 rs1569313861 |
360 | D>Y | No |
ClinGen Ensembl |
|
|
rs143706986 CA335086396 |
361 | D>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs377512781 CA10513380 |
362 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA414572395 rs1442392976 |
367 | T>I | No |
ClinGen gnomAD |
|
|
CA10513382 rs770710833 |
368 | E>A | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 374 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10513383 rs780790088 |
376 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1357509082 CA414572700 |
377 | A>D | No |
ClinGen TOPMed |
|
|
CA414572712 rs1426031174 |
378 | G>R | No |
ClinGen gnomAD |
|
|
CA10513388 rs770200497 |
379 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
No associated diseases with O75995
2 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| nucleus | A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent. |
No GO annotations of molecular function
| Name | Definition |
|---|---|
| No GO annotations for molecular function |
17 GO annotations of biological process
| Name | Definition |
|---|---|
| B cell homeostasis | The process of regulating the proliferation and elimination of B cells such that the total number of B cells within a whole or part of an organism is stable over time in the absence of an outside stimulus. |
| B cell proliferation | The expansion of a B cell population by cell division. Follows B cell activation. |
| CD4-positive, alpha-beta T cell differentiation | The process in which a relatively unspecialized T cell acquires specialized features of a mature CD4-positive, alpha-beta T cell. |
| homeostasis of number of cells within a tissue | Any biological process involved in the maintenance of the steady-state number of cells within a population of cells in a tissue. |
| positive regulation of adaptive immune response | Any process that activates or increases the frequency, rate, or extent of an adaptive immune response. |
| positive regulation of B cell proliferation | Any process that activates or increases the rate or extent of B cell proliferation. |
| positive regulation of CD4-positive, alpha-beta T cell differentiation | Any process that activates or increases the frequency, rate or extent of CD4-positive, alpha-beta T cell differentiation. |
| positive regulation of immunoglobulin production | Any process that activates or increases the frequency, rate, or extent of immunoglobulin production. |
| positive regulation of interferon-gamma production | Any process that activates or increases the frequency, rate, or extent of interferon-gamma production. Interferon-gamma is also known as type II interferon. |
| positive regulation of interleukin-10 production | Any process that activates or increases the frequency, rate, or extent of interleukin-10 production. |
| positive regulation of interleukin-2 production | Any process that activates or increases the frequency, rate, or extent of interleukin-2 production. |
| positive regulation of interleukin-4 production | Any process that activates or increases the frequency, rate, or extent of interleukin-4 production. |
| positive regulation of organ growth | Any process that activates or increases the frequency, rate or extent of growth of an organ of an organism. |
| positive regulation of T cell cytokine production | Any process that activates or increases the frequency, rate, or extent of T cell cytokine production. |
| positive regulation of T cell proliferation | Any process that activates or increases the rate or extent of T cell proliferation. |
| positive regulation of tumor necrosis factor production | Any process that activates or increases the frequency, rate or extent of tumor necrosis factor production. |
| T cell proliferation | The expansion of a T cell population by cell division. Follows T cell activation. |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MLRRKPSNAS | EKEPTQKKKL | SLQRSSSFKD | FAKSKPSSPV | VSEKEFNLDD | NIPEDDSGVP |
| 70 | 80 | 90 | 100 | 110 | 120 |
| TPEDAGKSGK | KLGKKWRAVI | SRTMNRKMGK | MMVKALSEEM | ADTLEEGSAS | PTSPDYSLDS |
| 130 | 140 | 150 | 160 | 170 | 180 |
| PGPEKMALAF | SEQEEHELPV | LSRQASTGSE | LCSPSPGSGS | FGEEPPAPQY | TGPFCGRARV |
| 190 | 200 | 210 | 220 | 230 | 240 |
| HTDFTPSPYD | HDSLKLQKGD | VIQIIEKPPV | GTWLGLLNGK | VGSFKFIYVD | VLPEEAVGHA |
| 250 | 260 | 270 | 280 | 290 | 300 |
| RPSRRQSKGK | RPKPKTLHEL | LERIGLEEHT | STLLLNGYQT | LEDFKELRET | HLNELNIMDP |
| 310 | 320 | 330 | 340 | 350 | 360 |
| QHRAKLLTAA | ELLLDYDTGS | EEAEEGAESS | QEPVAHTVSE | PKVDIPRDSG | CFEGSESGRD |
| 370 | |||||
| DAELAGTEEQ | LQGLSLAGAP |