O14681
Gene name |
EI24 (PIG8) |
Protein name |
Etoposide-induced protein 2.4 homolog |
Names |
p53-induced gene 8 protein |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:9538 |
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 O14681
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-O14681-F1 | Predicted | AlphaFoldDB |
226 variants for O14681
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs1938981293 RCV001291079 |
248 | P>S | Intellectual disability [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1430252311 CA383184375 |
3 | D>G | No |
ClinGen TOPMed |
|
|
rs1210035779 CA383184438 |
6 | K>N | No |
ClinGen gnomAD |
|
|
rs1034665480 CA230478843 |
6 | K>Q | No |
ClinGen TOPMed |
|
|
rs757684668 CA6348407 |
8 | F>I | No |
ClinGen ExAC gnomAD |
|
|
rs1028818107 CA230478852 |
9 | L>F | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 9 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs377285559 CA6348408 |
10 | Q>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA230478856 rs371166633 |
11 | D>Y | No |
ClinGen ESP |
|
|
CA383184500 rs1248055655 |
12 | L>P | No |
ClinGen gnomAD |
|
|
CA6348409 rs750911358 |
13 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1256404202 CA383184511 |
14 | R>I | No |
ClinGen gnomAD |
|
|
rs1253897850 CA383175482 |
16 | I>V | No |
ClinGen gnomAD |
|
|
rs1456760538 CA383175496 |
17 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1423012400 CA383175508 |
18 | D>G | No |
ClinGen gnomAD |
|
|
rs754468044 CA6348442 |
19 | S>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA230448716 rs1033679626 |
19 | S>F | No |
ClinGen Ensembl |
|
|
CA230448725 rs959439900 |
22 | G>D | No |
ClinGen Ensembl |
|
|
CA383175561 rs1419853087 |
23 | I>T | No |
ClinGen gnomAD |
|
|
rs780869331 CA6348443 |
23 | I>V | No |
ClinGen ExAC |
|
|
rs750770393 CA6348444 |
25 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs1388706495 CA383175589 |
26 | I>N | No |
ClinGen gnomAD |
|
|
rs758650270 CA230448790 |
26 | I>V | No |
ClinGen gnomAD |
|
|
CA383175623 rs1478795773 |
29 | L>I | No |
ClinGen TOPMed |
|
| VAR_065459 | 30 | D>G | some patients with early onset breast cancer [UniProt] | No | UniProt |
|
rs1266678551 CA383175652 |
31 | A>V | No |
ClinGen TOPMed |
|
|
rs1436886093 CA383175656 |
32 | R>* | No |
ClinGen gnomAD |
|
|
rs755888723 CA6348445 |
32 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA230448806 rs11538202 |
34 | Q>R | No |
ClinGen Ensembl |
|
|
rs1015595415 CA230448813 |
35 | Q>E | No |
ClinGen TOPMed |
|
|
CA383175687 rs1290620281 |
36 | K>N | No |
ClinGen TOPMed |
|
|
rs961210908 CA230448826 |
38 | E>K | No |
ClinGen TOPMed |
|
|
rs777575493 CA383175709 |
39 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs143089007 CA6348447 |
41 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6348448 rs559933286 |
41 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA383175725 rs1227885517 |
42 | R>Q | No |
ClinGen gnomAD |
|
|
CA6348449 rs576924332 |
44 | R>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs747137168 CA6348451 |
46 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA383175751 rs1342700092 |
46 | S>N | No |
ClinGen TOPMed |
|
|
rs1255568465 CA383175762 |
47 | S>G | No |
ClinGen gnomAD |
|
|
rs768825664 CA6348453 |
47 | S>I | No |
ClinGen ExAC |
|
|
CA6348455 rs762050242 |
48 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs777026055 CA6348454 |
48 | V>F | No |
ClinGen ExAC gnomAD |
|
|
CA383175813 rs1343340080 |
49 | L>F | No |
ClinGen gnomAD |
|
|
CA6348456 rs373668336 |
50 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1349997744 CA383175824 |
50 | A>V | No |
ClinGen TOPMed |
|
|
rs766788418 CA230448900 |
53 | R>G | No |
ClinGen Ensembl |
|
|
rs1324920326 CA383175856 |
53 | R>K | No |
ClinGen TOPMed |
|
|
CA230448903 rs1043914 |
54 | A>P | No |
ClinGen Ensembl |
|
|
rs868521544 CA230448918 |
55 | Q>K | No |
ClinGen Ensembl |
|
|
CA383175908 rs1401928711 |
57 | I>T | No |
ClinGen gnomAD |
|
|
rs763226051 CA6348458 |
58 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1171209886 CA383175922 |
58 | E>V | No |
ClinGen TOPMed |
|
|
rs766964225 CA6348459 |
59 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs187402952 CA230448930 |
59 | R>W | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs1176987567 CA383175983 |
63 | S>R | No |
ClinGen gnomAD |
|
|
CA6348494 rs765076061 |
64 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA6348495 rs368526220 |
66 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA230449886 rs555329927 |
66 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA6348496 COSM1585479 rs758348980 |
70 | R>I | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
| TCGA novel | 71 | I>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 80 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA230449923 rs866858234 |
83 | W>* | No |
ClinGen TOPMed gnomAD |
|
|
rs982649922 CA230450881 |
84 | F>C | No |
ClinGen TOPMed |
|
|
rs761501242 CA6348515 |
86 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383176727 rs1199505779 |
87 | L>P | No |
ClinGen gnomAD |
|
|
CA383176733 rs1486855832 CA383176734 |
88 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA383176732 rs781526161 |
88 | L>S | No |
ClinGen TOPMed |
|
|
rs781526161 CA230450931 |
88 | L>W | No |
ClinGen TOPMed |
|
|
rs1203708950 CA383176753 |
91 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1486713589 CA383176756 |
92 | V>I | No |
ClinGen TOPMed |
|
|
CA383176793 rs1184018568 |
97 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
CA383176808 rs1477844259 |
99 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
| TCGA novel | 100 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs541463043 CA383176809 |
100 | V>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA6348521 rs541463043 |
100 | V>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 103 | R>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6348522 rs751419166 |
103 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1262939623 CA383176842 |
105 | I>T | No |
ClinGen TOPMed |
|
|
CA6348524 rs777661044 |
106 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA6348543 rs764238263 |
108 | P>Q | No |
ClinGen ExAC gnomAD |
|
|
CA383177139 rs1164887003 |
108 | P>S | No |
ClinGen TOPMed |
|
|
rs1259071951 CA383177215 |
114 | V>I | No |
ClinGen TOPMed |
|
|
rs757313787 CA6348545 |
115 | W>* | No |
ClinGen ExAC gnomAD |
|
|
rs757313787 CA230451486 |
115 | W>C | No |
ClinGen ExAC gnomAD |
|
|
COSM3415645 rs534625909 CA6348546 |
116 | S>L | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA383177245 rs1184249657 |
116 | S>P | No |
ClinGen TOPMed |
|
|
CA6348549 rs1043918 |
119 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA6348552 rs781717797 |
123 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1233875979 CA383177394 |
127 | S>I | No |
ClinGen TOPMed |
|
|
CA383177396 rs1395991873 |
127 | S>R | No |
ClinGen gnomAD |
|
|
CA383177409 rs1043919 |
129 | L>F | No |
ClinGen TOPMed |
|
|
CA230451541 rs1043919 |
129 | L>V | No |
ClinGen TOPMed |
|
|
CA383177445 rs1591358058 |
131 | V>G | No |
ClinGen Ensembl |
|
|
rs1591358064 CA383177450 COSM1585478 |
132 | L>F | endometrium [Cosmic] | No |
ClinGen cosmic curated Ensembl |
| TCGA novel | 133 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1212896041 CA383177502 |
136 | V>L | No |
ClinGen TOPMed |
|
| TCGA novel | 140 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1289704430 CA383177549 |
140 | V>M | No |
ClinGen TOPMed |
|
|
rs773025733 CA6348555 |
144 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs1211520286 CA383177796 |
153 | A>V | No |
ClinGen gnomAD |
|
|
CA230452313 rs1017432096 |
155 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA230452319 rs964507866 |
156 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA383177812 rs964507866 |
156 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
rs777357915 CA6348573 |
158 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs777357915 CA6348572 |
158 | G>W | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 160 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA383177844 rs1408048016 |
161 | P>S | No |
ClinGen gnomAD |
|
| TCGA novel | 163 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1415107267 CA383177875 |
165 | P>L | No |
ClinGen TOPMed |
|
|
rs199956275 CA6348576 |
167 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs932804528 CA230452375 |
168 | S>C | No |
ClinGen Ensembl |
|
| TCGA novel | 169 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs771869037 CA6348577 |
171 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383177938 rs1213167263 |
174 | M>I | No |
ClinGen TOPMed |
|
|
CA383177935 rs1369207768 |
174 | M>T | No |
ClinGen gnomAD |
|
|
rs1051704625 CA230452382 |
175 | L>I | No |
ClinGen Ensembl |
|
|
CA6348579 rs760547660 |
176 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6348580 rs765307351 |
177 | N>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 181 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA383178017 rs1225662439 |
186 | I>M | No |
ClinGen gnomAD |
|
|
rs1234698331 CA383178016 |
186 | I>T | No |
ClinGen gnomAD |
|
|
CA6348597 rs746803273 |
191 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA383178064 rs746803273 |
191 | V>E | No |
ClinGen ExAC gnomAD |
|
|
CA383178076 rs1339805150 |
193 | L>F | No |
ClinGen gnomAD |
|
|
CA230453352 rs914768960 |
195 | P>L | No |
ClinGen Ensembl |
|
| VAR_065460 | 195 | P>W | some patients with early onset breast cancer; requires 2 nucleotide substitutions [UniProt] | No | UniProt |
| VAR_065461 | 196 | I>D | some patients with early onset breast cancer; requires 2 nucleotide substitutions [UniProt] | No | UniProt |
|
CA6348598 rs768642013 |
196 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA383178103 rs1273559472 |
197 | H>R | No |
ClinGen gnomAD |
|
| VAR_065462 | 197 | H>Y | some patients with early onset breast cancer [UniProt] | No | UniProt |
| VAR_065463 | 199 | V>H | some patients with early onset breast cancer; requires 2 nucleotide substitutions [UniProt] | No | UniProt |
|
CA6348599 rs776530046 |
199 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs963507559 CA230453384 |
200 | G>D | No |
ClinGen TOPMed |
|
|
rs373773329 CA6348602 |
200 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs373773329 CA6348601 |
200 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs759742348 CA6348603 |
203 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs767996205 CA6348604 |
205 | L>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383178150 rs1170259605 |
205 | L>P | No |
ClinGen TOPMed |
|
|
CA6348605 rs753175859 |
206 | L>M | No |
ClinGen ExAC gnomAD |
|
|
rs1565331728 CA383178160 |
207 | H>R | No |
ClinGen Ensembl |
|
|
rs764744779 CA6348608 |
216 | C>Y | No |
ClinGen ExAC |
|
|
CA383178236 rs1431176371 |
218 | E>A | No |
ClinGen TOPMed |
|
|
CA6348610 rs756747810 |
220 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383178251 rs1565331774 |
220 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA6348611 rs778428992 |
223 | N>H | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 226 | I>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA383178307 rs1187860758 |
226 | I>T | No |
ClinGen gnomAD |
|
|
CA383178322 rs1418744446 |
228 | M>R | No |
ClinGen gnomAD |
|
|
CA230454213 rs1051274719 |
231 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1157223457 CA383178344 |
231 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA230454250 rs944559335 |
235 | I>V | No |
ClinGen Ensembl |
|
| TCGA novel | 236 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs772477314 CA6348624 |
236 | E>A | No |
ClinGen ExAC gnomAD |
|
|
CA230454253 rs3017282 |
236 | E>K | No |
ClinGen Ensembl |
|
|
CA6348625 rs775831062 |
237 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs1052273727 CA230454264 |
237 | R>K | No |
ClinGen TOPMed |
|
|
CA6348626 rs761160071 |
237 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs892392286 CA230454267 |
240 | P>S | No |
ClinGen TOPMed |
|
|
rs892392286 CA383178436 |
240 | P>T | No |
ClinGen TOPMed |
|
|
CA6348628 rs754323798 |
241 | Y>F | No |
ClinGen ExAC gnomAD |
|
|
CA6348629 rs762315438 |
242 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs1277430275 CA383178597 |
253 | T>I | No |
ClinGen gnomAD |
|
|
CA383178612 rs1365125068 |
255 | M>V | No |
ClinGen TOPMed |
|
|
rs1591360728 CA383178643 |
257 | S>T | No |
ClinGen Ensembl |
|
| TCGA novel | 257 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA230454340 rs372602233 |
259 | Y>C | No |
ClinGen ESP |
|
|
CA383179119 rs1249976689 |
262 | S>R | No |
ClinGen gnomAD |
|
|
rs775886056 CA6348650 |
264 | C>W | No |
ClinGen ExAC gnomAD |
|
|
rs747178296 CA383179191 |
268 | I>F | No |
ClinGen ExAC gnomAD |
|
|
rs747178296 CA6348651 |
268 | I>L | No |
ClinGen ExAC gnomAD |
|
|
CA383179230 rs1452364929 |
271 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1201058323 CA383179258 |
272 | L>F | No |
ClinGen TOPMed |
|
|
CA6348652 rs768907071 |
276 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs1166077392 CA383179370 |
279 | E>D | No |
ClinGen gnomAD |
|
|
rs548662841 CA230455433 |
279 | E>G | No |
ClinGen 1000Genomes gnomAD |
|
|
rs548662841 CA383179369 |
279 | E>V | No |
ClinGen 1000Genomes gnomAD |
|
|
CA383179375 rs1395164206 |
280 | A>T | No |
ClinGen gnomAD |
|
| TCGA novel | 281 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA383179426 rs1591361744 |
282 | T>P | No |
ClinGen Ensembl |
|
| TCGA novel | 284 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs972394188 CA230455439 |
286 | A>T | No |
ClinGen Ensembl |
|
|
CA6348655 rs762073143 |
286 | A>V | No |
ClinGen ExAC |
|
|
CA383179540 rs1555055033 |
287 | Y>C | No |
ClinGen Ensembl |
|
|
rs919957231 CA230456346 |
290 | Q>H | No |
ClinGen TOPMed |
|
|
rs758571587 CA6348667 |
290 | Q>L | No |
ClinGen ExAC gnomAD |
|
|
rs371275461 CA6348668 |
292 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs747081882 CA6348669 |
292 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768981828 CA383179740 |
293 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA6348670 rs768981828 |
293 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA6348671 rs776697971 |
297 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA383179855 rs1327578743 |
299 | F>S | No |
ClinGen gnomAD |
|
|
rs748588966 CA6348672 |
301 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA383179890 rs1291585663 |
302 | N>S | No |
ClinGen gnomAD |
|
|
CA383179896 rs1334237838 |
303 | R>K | No |
ClinGen gnomAD |
|
|
CA6348673 rs570993633 |
310 | Y>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA6348674 rs570993633 |
310 | Y>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA6348675 rs373537623 |
313 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA230456410 rs746913266 |
314 | A>V | No |
ClinGen TOPMed |
|
|
CA383180045 rs1203112235 |
315 | L>P | No |
ClinGen gnomAD |
|
|
CA383180051 rs1260752303 |
316 | S>N | No |
ClinGen gnomAD |
|
|
CA383180067 rs1380867159 |
317 | S>N | No |
ClinGen TOPMed |
|
|
CA6348677 VAR_065464 rs375652371 |
319 | T>A | some patients with early onset breast cancer [UniProt] | No |
ClinGen UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
rs759030816 CA6348678 |
319 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA383180081 rs375652371 |
319 | T>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6348679 rs368640507 |
321 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA230456446 rs543422472 |
322 | E>K | No |
ClinGen Ensembl |
|
|
CA383180137 rs1381255890 |
324 | F>L | No |
ClinGen TOPMed |
|
|
CA6348680 rs752258627 |
325 | P>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 325 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1591362738 CA383180152 |
325 | P>S | No |
ClinGen Ensembl |
|
|
rs755968101 CA6348681 |
326 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA6348682 rs763747205 |
327 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1451147333 CA383180168 |
327 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA383180187 rs1565334270 |
328 | H>Q | No |
ClinGen Ensembl |
|
|
rs757330810 CA6348684 |
328 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs371870792 CA6348685 |
329 | P>L | Variant assessed as Somatic; 4.66e-05 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA383180207 rs1295372984 |
330 | S>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1233934373 CA383180202 |
330 | S>T | No |
ClinGen gnomAD |
|
|
CA6348688 rs781510255 |
334 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs748272966 CA6348689 |
336 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs371540566 CA6348690 |
336 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 337 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs778049532 CA6348691 |
339 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs568514385 CA6348692 |
340 | H>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA6348693 rs771481834 |
341 | H>G | No |
ClinGen ExAC TOPMed |
1 associated diseases with O14681
Without disease ID
No regional properties for O14681
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| No domain, repeats, and functional sites for O14681 | |||
7 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| 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). |
| endoplasmic reticulum membrane | The lipid bilayer surrounding the endoplasmic reticulum. |
| Golgi apparatus | A membrane-bound cytoplasmic organelle of the endomembrane system that further processes the core oligosaccharides (e.g. N-glycans) added to proteins in the endoplasmic reticulum and packages them into membrane-bound vesicles. The Golgi apparatus operates at the intersection of the secretory, lysosomal, and endocytic pathways. |
| integral component of membrane | The component of a membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane. |
| membrane | A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it. |
| nuclear membrane | Either of the lipid bilayers that surround the nucleus and form the nuclear envelope; excludes the intermembrane space. |
1 GO annotations of molecular function
| Name | Definition |
|---|---|
| importin-alpha family protein binding | Binding to a member of the importin-alpha family. |
3 GO annotations of biological process
| Name | Definition |
|---|---|
| apoptotic process | A programmed cell death process which begins when a cell receives an internal (e.g. DNA damage) or external signal (e.g. an extracellular death ligand), and proceeds through a series of biochemical events (signaling pathway phase) which trigger an execution phase. The execution phase is the last step of an apoptotic process, and is typically characterized by rounding-up of the cell, retraction of pseudopodes, reduction of cellular volume (pyknosis), chromatin condensation, nuclear fragmentation (karyorrhexis), plasma membrane blebbing and fragmentation of the cell into apoptotic bodies. When the execution phase is completed, the cell has died. |
| macroautophagy | The major inducible pathway for the general turnover of cytoplasmic constituents in eukaryotic cells, it is also responsible for the degradation of active cytoplasmic enzymes and organelles during nutrient starvation. Macroautophagy involves the formation of double-membrane-bounded autophagosomes which enclose the cytoplasmic constituent targeted for degradation in a membrane-bounded structure. Autophagosomes then fuse with a lysosome (or vacuole) releasing single-membrane-bounded autophagic bodies that are then degraded within the lysosome (or vacuole). Some types of macroautophagy, e.g. pexophagy, mitophagy, involve selective targeting of the targets to be degraded. |
| negative regulation of cell growth | Any process that stops, prevents, or reduces the frequency, rate, extent or direction of cell growth. |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MADSVKTFLQ | DLARGIKDSI | WGICTISKLD | ARIQQKREEQ | RRRRASSVLA | QRRAQSIERK |
| 70 | 80 | 90 | 100 | 110 | 120 |
| QESEPRIVSR | IFQCCAWNGG | VFWFSLLLFY | RVFIPVLQSV | TARIIGDPSL | HGDVWSWLEF |
| 130 | 140 | 150 | 160 | 170 | 180 |
| FLTSIFSALW | VLPLFVLSKV | VNAIWFQDIA | DLAFEVSGRK | PHPFPSVSKI | IADMLFNLLL |
| 190 | 200 | 210 | 220 | 230 | 240 |
| QALFLIQGMF | VSLFPIHLVG | QLVSLLHMSL | LYSLYCFEYR | WFNKGIEMHQ | RLSNIERNWP |
| 250 | 260 | 270 | 280 | 290 | 300 |
| YYFGFGLPLA | FLTAMQSSYI | ISGCLFSILF | PLFIISANEA | KTPGKAYLFQ | LRLFSLVVFL |
| 310 | 320 | 330 | |||
| SNRLFHKTVY | LQSALSSSTS | AEKFPSPHPS | PAKLKATAGH |