Q8N0S6
Gene name |
CENPL (C1orf155, ICEN33) |
Protein name |
Centromere protein L |
Names |
CENP-L, Interphase centromere complex protein 33 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:91687 |
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
9 structures for Q8N0S6
237 variants for Q8N0S6
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
| TCGA novel | 2 | D>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1249949 rs778033095 |
4 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs200103202 CA1249947 |
6 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759355150 CA1249945 |
9 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA343751953 rs1180569993 |
10 | T>I | No |
ClinGen gnomAD |
|
|
CA32754441 rs768818748 |
12 | S>N | No |
ClinGen Ensembl |
|
|
rs1228713208 CA343751934 |
13 | A>V | No |
ClinGen TOPMed |
|
|
rs1557846752 CA343751926 |
14 | S>F | No |
ClinGen Ensembl |
|
|
CA1249943 rs766067591 |
15 | S>* | No |
ClinGen ExAC gnomAD |
|
|
CA343751918 rs1435824380 |
16 | R>K | No |
ClinGen TOPMed gnomAD |
|
|
CA1249942 rs760560286 |
16 | R>S | No |
ClinGen ExAC |
|
|
CA1249941 rs139971891 |
17 | P>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1489990736 CA343751912 |
17 | P>S | No |
ClinGen gnomAD |
|
|
rs376379173 CA1249940 |
19 | D>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1571962062 CA343751890 |
20 | Y>C | No |
ClinGen Ensembl |
|
|
CA343751892 rs1179549072 |
20 | Y>N | No |
ClinGen TOPMed |
|
|
rs1557846727 CA343751886 |
21 | F>I | No |
ClinGen Ensembl |
|
|
CA1249939 rs151044818 |
21 | F>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs952181147 CA32754422 |
22 | I>V | No |
ClinGen Ensembl |
|
| TCGA novel | 23 | G>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA343751832 rs1353856360 |
25 | T>A | No |
ClinGen gnomAD |
|
|
rs999235861 CA343751828 |
25 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA32754397 rs999235861 |
25 | T>N | No |
ClinGen TOPMed gnomAD |
|
|
CA1249937 rs139831401 |
26 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA343751800 rs1335290339 |
28 | Q>* | No |
ClinGen gnomAD |
|
|
COSM424626 CA32754379 rs994018186 |
30 | R>* | Variant assessed as Somatic; impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
rs201830798 CA1249934 |
30 | R>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1249935 rs201830798 COSM3687805 |
30 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA343751720 rs1427837069 |
33 | S>L | No |
ClinGen TOPMed |
|
|
CA1249932 rs147657848 |
34 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs758553316 CA1249931 |
38 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1249929 rs778918147 |
38 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA343751593 rs753688759 |
42 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA343751577 rs1362936641 |
43 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA1249926 rs373147233 |
45 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1249924 rs750186632 |
46 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750186632 CA343751555 |
46 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA343751551 rs767450186 |
46 | R>P | No |
ClinGen ExAC gnomAD |
|
|
CA1249923 rs767450186 |
46 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs774194739 CA1249921 |
50 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1363607351 CA343751498 |
50 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1479323967 CA343751473 |
52 | C>R | No |
ClinGen TOPMed |
|
|
rs1358009223 CA343751466 |
52 | C>Y | No |
ClinGen gnomAD |
|
|
rs762589173 CA1249919 |
53 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762589173 CA1249920 |
53 | S>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771407346 CA1249917 |
54 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs747479891 CA1249916 |
55 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772451925 CA1249915 |
56 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
rs772451925 CA1249914 |
56 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs1370488914 CA343750524 |
57 | E>D | No |
ClinGen TOPMed |
|
|
CA1249895 rs761125900 |
57 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1323092912 CA343750511 |
58 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
rs144027979 CA1249894 |
58 | D>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs772398782 CA1249893 |
59 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1391937983 CA343750487 |
60 | D>G | No |
ClinGen gnomAD |
|
|
rs1172538157 CA343750457 |
62 | Q>* | No |
ClinGen gnomAD |
|
|
CA343750426 rs1466006233 |
63 | K>N | No |
ClinGen gnomAD |
|
|
CA343750420 rs1422792514 |
64 | V>F | No |
ClinGen gnomAD |
|
|
CA343750424 rs1422792514 |
64 | V>I | No |
ClinGen gnomAD |
|
|
CA343750408 rs1268779099 |
65 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
CA1249892 rs748581087 |
67 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA343750347 rs1490985112 |
70 | K>E | No |
ClinGen gnomAD |
|
|
rs774545206 CA1249891 |
74 | L>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs369035559 CA1249890 |
75 | Y>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs7418622 CA32751637 |
76 | S>N | No |
ClinGen Ensembl |
|
|
rs538592242 CA1249889 |
78 | T>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1203940804 CA343750227 |
78 | T>S | No |
ClinGen gnomAD |
|
|
rs780132844 CA1249888 |
79 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA32751627 rs1021446812 |
80 | L>V | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 82 | K>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs745768571 CA1249886 |
85 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA343750133 rs1438873745 |
87 | N>D | No |
ClinGen gnomAD |
|
|
rs199842348 CA1249884 |
87 | N>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs759796518 CA1249881 |
93 | R>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 93 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1249880 rs758033141 |
95 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA343750077 rs1416115548 |
95 | L>H | No |
ClinGen gnomAD |
|
|
rs1422081628 CA343750053 |
98 | F>L | No |
ClinGen TOPMed |
|
|
CA1249877 rs759090025 |
99 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA1249876 rs372282461 |
100 | V>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs768071600 CA1249875 |
101 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA32751564 rs1029680394 |
103 | K>E | No |
ClinGen Ensembl |
|
|
CA343750017 rs1231532691 |
104 | Q>P | No |
ClinGen gnomAD |
|
|
rs774711348 CA32751562 |
108 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs774711348 CA1249873 |
108 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs768923320 CA1249872 |
110 | E>A | No |
ClinGen ExAC gnomAD |
|
|
CA1249870 rs138099730 |
111 | V>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1249871 rs763212615 |
111 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1249869 rs557642625 |
116 | N>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1249868 VAR_027081 rs12086855 |
117 | I>F | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs781432131 CA1249867 |
118 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1249866 rs770921269 |
120 | I>N | No |
ClinGen ExAC TOPMed gnomAD |
|
| rs1359644753 | 122 | S>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1249865 rs746971504 |
123 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758180138 CA1249863 |
124 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA343749872 rs1158802622 |
127 | M>R | No |
ClinGen TOPMed gnomAD |
|
|
rs754113095 CA1249862 |
128 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA343749863 rs1268963763 |
128 | K>R | No |
ClinGen TOPMed |
|
|
rs1405415343 CA343749848 |
130 | T>I | No |
ClinGen gnomAD |
|
|
CA1249861 rs144722707 |
133 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA343749824 rs1183958847 |
134 | P>A | No |
ClinGen gnomAD |
|
|
CA1249860 rs754472381 |
134 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs762268983 CA1249857 |
135 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1249856 rs752054283 |
137 | F>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 137 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM3934270 rs1007733437 CA32751486 COSM3934269 |
140 | Q>R | oesophagus [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
rs1195069833 CA343748379 |
141 | I>L | No |
ClinGen gnomAD |
|
|
CA343748343 rs1337364781 |
144 | K>E | No |
ClinGen gnomAD |
|
|
rs528965924 CA1249838 |
146 | Q>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1249836 rs758953713 |
149 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs1300757505 CA343748246 |
150 | E>D | No |
ClinGen gnomAD |
|
|
CA1249835 rs752933190 |
151 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA343748236 rs752933190 |
151 | N>T | No |
ClinGen ExAC gnomAD |
|
|
CA32748438 rs899167469 |
152 | R>G | No |
ClinGen Ensembl |
|
| TCGA novel | 152 | R>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA343748206 rs1328582538 |
153 | E>D | No |
ClinGen gnomAD |
|
|
rs1378040286 CA343748219 |
153 | E>K | No |
ClinGen gnomAD |
|
|
rs1036470566 CA32748432 |
154 | G>D | No |
ClinGen Ensembl |
|
|
CA343748132 rs1272127836 |
159 | T>A | No |
ClinGen TOPMed |
|
|
CA1249832 rs200815000 |
162 | F>V | No |
ClinGen ExAC gnomAD |
|
|
CA1249830 rs760737838 |
163 | C>S | No |
ClinGen ExAC gnomAD |
|
|
CA1249829 rs773191929 |
164 | C>S | No |
ClinGen ExAC gnomAD |
|
|
rs1363508108 CA343748060 |
165 | V>I | No |
ClinGen gnomAD |
|
|
rs757321947 CA1249827 |
169 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1249826 rs369995400 |
170 | L>V | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1205719296 CA343748020 |
171 | L>M | No |
ClinGen TOPMed |
|
|
rs1277595643 CA343748003 |
173 | T>S | No |
ClinGen gnomAD |
|
|
rs751694607 CA1249824 |
174 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs566411021 CA1249823 |
175 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
CA1249822 rs755636666 |
176 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA32748368 rs546596379 |
177 | D>Y | No |
ClinGen 1000Genomes |
|
|
CA343747948 rs1237303999 |
182 | P>S | No |
ClinGen gnomAD |
|
|
rs1414711835 CA343747938 |
183 | L>F | No |
ClinGen gnomAD |
|
|
CA343747943 rs1314011403 |
183 | L>V | No |
ClinGen gnomAD |
|
|
rs1310750273 CA343747914 |
186 | A>T | No |
ClinGen gnomAD |
|
|
CA1249820 rs780754361 |
186 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1249818 rs753266757 |
187 | N>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751817930 CA32748360 |
187 | N>K | No |
ClinGen TOPMed |
|
|
rs765678249 CA1249817 |
189 | A>P | No |
ClinGen ExAC gnomAD |
|
|
rs1157071135 CA343747868 |
190 | E>K | No |
ClinGen gnomAD |
|
|
CA343747841 rs1468376180 |
192 | N>D | No |
ClinGen gnomAD |
|
| TCGA novel | 195 | I>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1249816 rs755437217 |
195 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs964424861 CA32748330 |
196 | I>T | No |
ClinGen TOPMed |
|
|
rs1188500701 CA343747795 |
196 | I>V | No |
ClinGen gnomAD |
|
| TCGA novel | 197 | G>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA343747735 rs1381545173 |
199 | W>C | No |
ClinGen gnomAD |
|
|
CA32748326 rs979008831 |
202 | K>E | No |
ClinGen TOPMed |
|
|
CA343747703 rs1474834605 |
202 | K>R | No |
ClinGen gnomAD |
|
|
rs1459501941 CA343747683 |
203 | T>I | No |
ClinGen TOPMed |
|
| TCGA novel | 204 | F>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1218122371 CA343747650 |
206 | C>G | No |
ClinGen gnomAD |
|
|
CA1249814 rs766770133 |
206 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773099596 CA1249812 |
209 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA1249811 rs767669166 |
210 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA1249810 rs761609032 |
211 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1249809 rs774310854 |
212 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA343747501 rs1354079523 |
213 | I>M | No |
ClinGen gnomAD |
|
|
CA343747486 rs1280704912 |
214 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1367037571 CA343747466 |
215 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA32748308 rs1025828219 |
219 | S>A | No |
ClinGen TOPMed |
|
|
CA32748306 rs995220059 |
219 | S>C | No |
ClinGen TOPMed |
|
|
rs967731883 CA343747372 |
220 | W>* | No |
ClinGen TOPMed |
|
|
CA32748294 rs967731883 |
220 | W>C | No |
ClinGen TOPMed |
|
|
CA343747339 rs1400640624 |
222 | A>V | No |
ClinGen gnomAD |
|
|
rs1316412659 CA343747308 |
224 | M>I | No |
ClinGen gnomAD |
|
|
CA1249808 rs766564911 |
224 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 227 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1165369201 CA343747185 |
230 | M>I | No |
ClinGen gnomAD |
|
|
CA343747186 rs762795112 |
230 | M>R | No |
ClinGen ExAC gnomAD |
|
|
CA1249807 rs762795112 |
230 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs962493885 CA32748282 |
230 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
CA343747108 rs1485354608 |
234 | V>M | No |
ClinGen TOPMed |
|
|
rs775277356 CA343747074 |
236 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs775277356 CA1249806 |
236 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs1415550770 CA343747062 |
237 | T>A | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 238 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs769260488 CA1249805 |
242 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs375786847 CA1249804 |
243 | V>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA343746924 rs41265234 |
245 | C>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs956680000 CA32748240 |
245 | C>R | No |
ClinGen Ensembl |
|
|
CA1249803 rs41265234 |
245 | C>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA343746918 rs1190504676 |
245 | C>W | No |
ClinGen gnomAD |
|
|
CA343746877 rs1383923406 |
248 | Q>R | No |
ClinGen TOPMed |
|
|
rs1253283189 CA343746861 |
249 | S>I | No |
ClinGen TOPMed gnomAD |
|
|
CA343746857 rs1253283189 |
249 | S>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1213435781 CA343746826 |
252 | I>V | No |
ClinGen gnomAD |
|
|
rs1363033655 CA343746796 |
253 | S>F | No |
ClinGen gnomAD |
|
|
rs143910289 CA343746780 |
254 | F>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 255 | A>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA343746778 rs779634048 |
255 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1249800 rs779634048 COSM899784 |
255 | A>T | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs755386136 CA1249799 |
255 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA1249798 rs139873333 |
256 | I>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1438788037 CA343746739 |
261 | A>T | No |
ClinGen gnomAD |
|
| TCGA novel | 262 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs147875545 CA1249796 |
263 | A>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1439825393 CA343746719 |
264 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA343746710 rs1189955949 |
265 | W>L | No |
ClinGen gnomAD |
|
|
rs1172646763 CA343746705 |
266 | D>N | No |
ClinGen gnomAD |
|
|
rs767473743 CA1249794 |
267 | S>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 268 | V>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA32748202 rs376503908 |
273 | G>E | No |
ClinGen Ensembl |
|
| TCGA novel | 273 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 274 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1249793 rs762017774 |
274 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA1249791 rs763961090 |
281 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA343746576 rs1437759520 |
284 | M>I | No |
ClinGen gnomAD |
|
|
rs139044055 CA1249789 |
285 | D>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs769650444 CA1249788 |
286 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
rs191005165 CA1249787 |
289 | S>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA1249785 rs770345706 |
290 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1368440798 CA343746532 |
291 | F>V | No |
ClinGen gnomAD |
|
|
CA343746479 rs1299654969 |
298 | H>D | No |
ClinGen gnomAD |
|
|
rs1571956646 CA343746464 |
300 | S>P | No |
ClinGen Ensembl |
|
|
rs150724604 CA1249783 |
302 | T>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1326798259 CA343746430 |
305 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
CA32748153 rs1036782482 |
306 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA1249781 rs41265232 |
306 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs41265232 CA1249782 |
306 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs750604400 CA1249778 |
310 | S>A | No |
ClinGen ExAC gnomAD |
|
|
CA1249777 rs199858256 |
310 | S>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 311 | V>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1249776 rs141850049 |
313 | S>L | No |
ClinGen ESP ExAC |
|
|
CA1249774 rs751570406 |
316 | T>A | No |
ClinGen ExAC |
|
|
CA1249773 rs144597243 |
319 | K>N | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1474070062 CA343746344 |
320 | I>L | No |
ClinGen TOPMed |
|
|
rs776106025 CA1249756 |
323 | L>R | No |
ClinGen ExAC gnomAD |
|
|
CA343816217 rs1184050135 |
323 | L>V | No |
ClinGen gnomAD |
|
|
CA343816191 rs1257515336 |
326 | K>N | No |
ClinGen gnomAD |
|
|
rs1374481875 CA343816174 |
329 | I>F | No |
ClinGen TOPMed |
|
|
CA343816172 rs1185860910 |
329 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
rs770040755 CA1249755 |
333 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA527394702 rs1316054826 |
340 | I>N | No |
ClinGen gnomAD |
|
|
rs142489691 CA1249753 |
340 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1235140064 CA343816072 |
344 | E>G | No |
ClinGen TOPMed |
|
|
CA527394697 rs1234976963 |
345 | E>A | No |
ClinGen gnomAD |
No associated diseases with Q8N0S6
No regional properties for Q8N0S6
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| No domain, repeats, and functional sites for Q8N0S6 | |||
Functions
3 GO annotations of cellular component
| Name | Definition |
|---|---|
| chromosome, centromeric region | The region of a chromosome that includes the centromeric DNA and associated proteins. In monocentric chromosomes, this region corresponds to a single area of the chromosome, whereas in holocentric chromosomes, it is evenly distributed along the chromosome. |
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| nucleoplasm | That part of the nuclear content other than the chromosomes or the nucleolus. |
No GO annotations of molecular function
| Name | Definition |
|---|---|
| No GO annotations for molecular function |
No GO annotations of biological process
| Name | Definition |
|---|---|
| No GO annotations for biological process |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MDSYSAPEST | PSASSRPEDY | FIGATPLQKR | LESVRKQSSF | ILTPPRRKIP | QCSQLQEDVD |
| 70 | 80 | 90 | 100 | 110 | 120 |
| PQKVAFLLHK | QWTLYSLTPL | YKFSYSNLKE | YSRLLNAFIV | AEKQKGLAVE | VGEDFNIKVI |
| 130 | 140 | 150 | 160 | 170 | 180 |
| FSTLLGMKGT | QRDPEAFLVQ | IVSKSQLPSE | NREGKVLWTG | WFCCVFGDSL | LETVSEDFTC |
| 190 | 200 | 210 | 220 | 230 | 240 |
| LPLFLANGAE | SNTAIIGTWF | QKTFDCYFSP | LAINAFNLSW | MAAMWTACKM | DHYVATTEFL |
| 250 | 260 | 270 | 280 | 290 | 300 |
| WSVPCSPQSL | DISFAIHPED | AKALWDSVHK | TPGEVTQEEV | DLFMDCLYSH | FHRHFKIHLS |
| 310 | 320 | 330 | 340 | ||
| ATRLVRVSTS | VASAHTDGKI | KILCHKYLIG | VLAYLTELAI | FQIE |