Q9C0F1
PR
Gene name |
CEP44 (KIAA1712) |
Protein name |
Centrosomal protein of 44 kDa |
Names |
Cep44, HBV PreS1-transactivated protein 3, PS1TP3 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:80817 |
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 Q9C0F1
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 7PT5 | X-ray | 230 A | A | 1-140 | PDB |
| AF-Q9C0F1-F1 | Predicted | AlphaFoldDB |
314 variants for Q9C0F1
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs1488687493 CA358759735 |
2 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1213012742 COSM1053280 CA358759746 |
3 | T>I | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA3141790 rs769361456 |
4 | G>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 8 | R>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1442223701 CA358759775 |
8 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
CA358759787 rs1313164899 |
9 | S>R | No |
ClinGen TOPMed |
|
|
rs377466253 CA3141795 |
9 | S>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA358759792 rs1281085120 |
10 | L>S | No |
ClinGen TOPMed |
|
|
CA3141797 rs73011419 COSM586675 |
11 | R>Q | lung [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs909614262 CA110721735 |
11 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
CA358759819 rs1387453893 |
14 | E>D | No |
ClinGen gnomAD |
|
|
rs370516561 CA3141799 |
15 | Q>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1436155316 CA358759825 |
15 | Q>R | No |
ClinGen gnomAD |
|
| TCGA novel | 17 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs375288124 CA3141800 |
18 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3141801 rs750534448 |
18 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1314792878 CA358759852 |
20 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
CA358759859 rs1322206940 |
21 | N>S | No |
ClinGen gnomAD |
|
|
CA110721822 rs368228207 |
22 | Y>H | No |
ClinGen ESP |
|
|
CA3141802 rs758507613 |
23 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA3141804 rs751849303 |
26 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA110721833 rs949787067 |
27 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1579097745 CA358759904 |
28 | C>R | No |
ClinGen Ensembl |
|
|
CA358759920 rs1183040781 |
30 | G>D | No |
ClinGen gnomAD |
|
|
CA3141822 rs750418957 |
33 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs1177033203 CA358759964 |
34 | G>E | No |
ClinGen gnomAD |
|
|
CA358759959 rs1579105495 |
34 | G>R | No |
ClinGen Ensembl |
|
|
CA358759966 rs1460523377 |
35 | D>H | No |
ClinGen gnomAD |
|
|
CA358759979 rs1315465593 |
37 | A>T | No |
ClinGen TOPMed |
|
|
CA358759990 rs1256722080 |
38 | A>V | No |
ClinGen TOPMed |
|
| TCGA novel | 40 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA110724255 rs866493608 |
41 | P>S | No |
ClinGen Ensembl |
|
|
rs755285424 COSM325627 CA3141826 |
42 | I>V | lung [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA3141827 rs781482160 |
45 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA110724286 rs200080536 |
46 | S>P | No |
ClinGen TOPMed gnomAD |
|
|
rs753068909 CA3141828 |
48 | T>I | No |
ClinGen ExAC |
|
|
CA358760060 rs543619406 |
49 | S>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3141829 rs543619406 |
49 | S>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1201754063 CA358760103 |
56 | E>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1277424878 CA358760106 |
56 | E>V | No |
ClinGen gnomAD |
|
|
rs907651312 CA358760118 |
58 | I>K | No |
ClinGen gnomAD |
|
|
CA358760117 rs1167291117 |
58 | I>L | No |
ClinGen TOPMed |
|
|
CA110724369 rs907651312 |
58 | I>T | No |
ClinGen gnomAD |
|
|
CA358760127 rs1479203301 |
59 | M>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA3141831 rs748712778 |
59 | M>R | No |
ClinGen ExAC gnomAD |
|
|
rs1199296154 CA358760122 |
59 | M>V | No |
ClinGen gnomAD |
|
|
CA3141832 rs770538564 |
61 | S>A | No |
ClinGen ExAC gnomAD |
|
|
rs1462388346 CA358760139 |
61 | S>Y | No |
ClinGen TOPMed |
|
|
CA3141834 rs151113549 |
62 | N>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs151113549 CA3141833 |
62 | N>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs771855113 CA3141835 |
62 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA358760147 rs1372363176 |
63 | V>I | No |
ClinGen gnomAD |
|
|
CA3141837 rs372440623 |
64 | E>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3141836 rs372440623 |
64 | E>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs768690821 CA3141838 |
65 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3141839 rs776671957 |
65 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA110724416 rs940335470 |
66 | I>L | No |
ClinGen gnomAD |
|
|
rs1275086825 CA358760166 |
66 | I>T | No |
ClinGen gnomAD |
|
|
CA358760164 rs940335470 |
66 | I>V | No |
ClinGen gnomAD |
|
|
rs115721122 CA3141841 |
72 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs115721122 CA358760207 |
72 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs143955462 CA3141842 |
72 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs143955462 CA358760208 |
72 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs115721122 CA358760206 |
72 | R>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1342229246 CA358760222 |
74 | I>T | No |
ClinGen gnomAD |
|
|
CA358760238 rs1221327285 |
76 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA3141843 rs759691071 |
77 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA3141844 rs199718601 |
78 | Y>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs753013658 CA3141845 |
79 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA3141860 rs748061668 |
80 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1396163897 CA358760275 |
81 | L>F | No |
ClinGen TOPMed |
|
|
rs368964236 CA3141861 |
82 | R>C | Variant assessed as Somatic; 4.669e-05 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs146429616 CA3141862 |
82 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs759637737 CA3141863 |
83 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA358760293 rs1181780308 |
84 | Q>* | No |
ClinGen gnomAD |
|
|
CA3141864 rs767707225 |
87 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA358760355 rs1179526475 |
92 | T>R | No |
ClinGen TOPMed |
|
| rs1407057449 | 95 | Q>A | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3141867 rs764457217 |
97 | I>S | No |
ClinGen ExAC |
|
|
CA3141866 rs761011587 |
97 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA358760398 rs1579110891 |
98 | Q>R | No |
ClinGen Ensembl |
|
|
rs754154372 CA3141868 |
99 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA358760414 rs1451302936 |
100 | G>E | No |
ClinGen gnomAD |
|
|
rs1331574072 CA358760435 |
103 | E>D | No |
ClinGen gnomAD |
|
|
rs866600980 CA110726114 |
104 | W>* | No |
ClinGen gnomAD |
|
|
rs866600980 CA358760444 |
104 | W>C | No |
ClinGen gnomAD |
|
|
CA358760457 rs1449465745 |
106 | I>T | No |
ClinGen gnomAD |
|
|
rs757741159 CA3141869 |
109 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA358760485 rs1349064778 |
110 | C>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs140864677 CA3141870 |
112 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs919936501 CA358760516 |
114 | N>K | No |
ClinGen TOPMed |
|
| TCGA novel | 115 | C>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3141872 rs35841125 |
117 | M>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs75428449 CA3141873 |
119 | K>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3141874 rs143573166 |
119 | K>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs774043156 CA110726155 |
120 | H>Q | No |
ClinGen Ensembl |
|
|
CA3141875 rs754690573 |
121 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1431997019 CA358760562 |
121 | K>T | No |
ClinGen TOPMed |
|
|
rs1363955420 CA358760570 |
122 | E>A | No |
ClinGen TOPMed |
|
|
CA358760577 rs1163101630 |
123 | L>* | No |
ClinGen TOPMed |
|
|
CA358760585 rs1406061470 |
124 | S>N | No |
ClinGen TOPMed |
|
|
rs1471493987 CA358760606 |
127 | Q>* | No |
ClinGen gnomAD |
|
|
rs1156873605 CA358760610 COSM1053281 |
127 | Q>H | endometrium [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
rs992671464 CA110726187 |
127 | Q>P | No |
ClinGen TOPMed |
|
| TCGA novel | 128 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA358760637 rs1432226553 |
129 | I>F | No |
ClinGen gnomAD |
|
|
CA358760644 rs1365423362 |
130 | P>A | No |
ClinGen gnomAD |
|
|
rs1385389006 CA358760647 |
130 | P>L | No |
ClinGen gnomAD |
|
|
rs1226819667 CA358760671 |
134 | R>G | No |
ClinGen gnomAD |
|
|
rs780733688 CA3141899 |
135 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA358760701 rs1344376422 |
138 | S>G | No |
ClinGen gnomAD |
|
| TCGA novel | 139 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs755905510 CA3141901 |
140 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA110726641 rs765406481 |
143 | E>K | No |
ClinGen Ensembl |
|
|
CA358760754 rs1488038016 |
146 | L>S | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 147 | G>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs4695918 CA358760759 |
147 | G>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
VAR_033116 CA3141902 rs4695918 |
147 | G>S | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1397768787 CA358760790 |
151 | I>K | No |
ClinGen TOPMed |
|
|
rs770856090 CA3141904 |
155 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs78585471 CA358760823 |
156 | V>A | No |
ClinGen ExAC |
|
|
rs78585471 CA3141905 |
156 | V>G | No |
ClinGen ExAC |
|
| TCGA novel | 156 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3141906 rs747113189 |
157 | G>C | No |
ClinGen ExAC gnomAD |
|
|
COSM208211 CA3141907 rs768900374 |
157 | G>V | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs762231821 CA3141909 |
158 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3141908 rs776757132 |
158 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770115106 CA3141910 |
159 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770115106 CA3141911 |
159 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1456730851 CA358760834 |
159 | D>Y | No |
ClinGen gnomAD |
|
|
rs1381910771 CA358760841 |
160 | I>T | No |
ClinGen gnomAD |
|
|
rs376845753 CA3141912 |
160 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs767024961 CA358760855 |
162 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs767024961 CA3141913 |
162 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA3141915 rs202124544 |
163 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3141914 rs202124544 |
163 | R>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3141916 rs767170378 |
164 | F>V | No |
ClinGen ExAC gnomAD |
|
|
rs752362647 CA3141917 |
165 | M>L | No |
ClinGen ExAC gnomAD |
|
|
rs1182450041 CA358761116 |
172 | A>G | No |
ClinGen TOPMed |
|
|
rs561221477 CA3141937 |
172 | A>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs757081528 CA3141939 |
174 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA358761126 rs1414610686 |
174 | V>M | No |
ClinGen gnomAD |
|
|
rs73867207 CA3141941 |
175 | I>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs148258730 COSM3428346 CA3141942 |
176 | R>C | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs147478051 CA3141943 |
176 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1402769413 CA358761146 |
177 | H>Q | No |
ClinGen gnomAD |
|
|
rs1409025097 CA358761158 |
179 | Y>C | No |
ClinGen gnomAD |
|
|
rs1286267447 CA358761184 |
182 | D>E | No |
ClinGen gnomAD |
|
|
CA358761183 rs1289172322 |
182 | D>V | No |
ClinGen gnomAD |
|
|
rs184443103 CA3141946 |
183 | N>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA3141948 rs778192446 |
184 | V>G | No |
ClinGen ExAC |
|
| TCGA novel | 185 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3141949 rs139331696 |
186 | I>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA358761216 rs1309937951 |
187 | S>C | No |
ClinGen gnomAD |
|
|
rs1211543219 CA358761218 |
188 | E>K | No |
ClinGen gnomAD |
|
|
rs771493509 CA3141950 |
190 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs746290439 CA3141952 |
191 | L>* | No |
ClinGen ExAC gnomAD |
|
|
CA358761251 rs1312829265 |
192 | S>R | No |
ClinGen TOPMed |
|
|
CA3141953 rs377528697 |
193 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs760278137 CA3141955 |
194 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs975178994 CA110730386 |
194 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA358761273 rs1369988066 |
196 | D>E | No |
ClinGen gnomAD |
|
|
CA3141957 rs776331014 |
196 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA3141956 rs763703431 |
196 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA3141959 rs764954886 |
200 | A>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 200 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA358761307 rs1410130568 |
201 | V>D | No |
ClinGen gnomAD |
|
|
CA3141960 rs750236678 |
202 | D>A | No |
ClinGen ExAC gnomAD |
|
|
CA3141961 rs528238232 |
203 | V>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA358761315 rs528238232 |
203 | V>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA358761322 rs1220483594 |
204 | S>T | No |
ClinGen gnomAD |
|
|
rs766363239 CA3141962 |
205 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
CA3141963 rs752700084 |
210 | E>A | No |
ClinGen ExAC gnomAD |
|
|
rs1226929256 CA358761371 |
211 | I>T | No |
ClinGen gnomAD |
|
|
CA3141965 rs370582883 |
213 | M>K | No |
ClinGen ESP ExAC gnomAD |
|
|
CA3141964 rs756305464 |
213 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757554027 CA358761418 |
218 | V>F | No |
ClinGen ExAC gnomAD |
|
|
rs757554027 CA3141967 |
218 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs757554027 CA358761417 |
218 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA358761428 rs1389688588 |
220 | E>K | No |
ClinGen gnomAD |
|
|
rs1165594938 CA358761443 |
222 | K>Q | No |
ClinGen TOPMed |
|
|
CA3141968 rs199625537 |
223 | A>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1425587722 CA358761451 |
223 | A>T | No |
ClinGen TOPMed |
|
|
rs1188281814 CA358761456 |
224 | E>K | No |
ClinGen Ensembl |
|
|
CA358761466 rs1166645385 |
225 | Q>* | No |
ClinGen gnomAD |
|
|
rs986475969 CA110730458 |
226 | Q>H | No |
ClinGen TOPMed |
|
|
rs762857468 CA3141980 |
227 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs200591484 CA3141979 |
227 | D>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs890978233 CA110731173 |
228 | V>I | No |
ClinGen TOPMed |
|
|
CA358761505 rs766198712 |
229 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA3141981 rs766198712 |
229 | N>T | No |
ClinGen ExAC gnomAD |
|
|
rs1387397643 CA358761521 |
231 | N>K | No |
ClinGen gnomAD |
|
|
rs751584812 CA3141982 |
232 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1172662245 CA358761523 |
232 | P>T | No |
ClinGen TOPMed |
|
|
CA358761528 rs1322022475 |
233 | E>K | No |
ClinGen gnomAD |
|
|
rs1326487832 CA358761537 |
234 | I>V | No |
ClinGen gnomAD |
|
|
CA358761548 rs1448011447 |
235 | T>I | No |
ClinGen gnomAD |
|
|
CA358761554 rs1282935113 |
236 | A>V | No |
ClinGen gnomAD |
|
|
CA3141985 rs753999371 |
238 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757502117 CA3141986 |
240 | M>V | No |
ClinGen ExAC TOPMed |
|
|
CA3141989 rs371383514 |
244 | C>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA358761607 rs1441913195 |
244 | C>W | No |
ClinGen gnomAD |
|
|
rs1186756074 CA358761609 |
245 | Q>* | No |
ClinGen gnomAD |
|
|
CA358761610 rs1186756074 |
245 | Q>E | No |
ClinGen gnomAD |
|
|
CA3141992 rs780410407 |
251 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA3141991 rs758862327 |
251 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1170062280 CA358761661 |
252 | T>S | No |
ClinGen gnomAD |
|
|
CA3141994 COSM168679 rs769157129 |
253 | S>L | Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA358761678 rs1394776468 |
255 | E>G | No |
ClinGen gnomAD |
|
|
CA110731247 rs750788616 |
256 | K>N | No |
ClinGen gnomAD |
|
|
rs374542523 COSM733098 CA110731271 |
257 | R>S | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA358761728 rs1361354417 |
259 | D>G | No |
ClinGen gnomAD |
|
|
CA3141996 rs747681903 |
260 | C>F | No |
ClinGen ExAC gnomAD |
|
|
rs747681903 CA3141997 |
260 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
rs202230528 CA110731279 |
261 | L>V | No |
ClinGen gnomAD |
|
|
CA358761760 rs1579130376 |
262 | E>K | No |
ClinGen Ensembl |
|
|
CA358761778 rs1289966024 |
263 | Q>* | No |
ClinGen TOPMed |
|
|
rs77511056 CA110731282 |
263 | Q>P | No |
ClinGen Ensembl |
|
|
rs371274791 CA3141999 |
264 | K>R | No |
ClinGen ESP ExAC gnomAD |
|
|
CA3142000 rs770820786 |
267 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA358761850 rs1335423638 |
268 | K>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1198755154 CA358761867 |
269 | V>A | No |
ClinGen gnomAD |
|
|
rs1344418216 CA358761860 |
269 | V>M | No |
ClinGen gnomAD |
|
|
rs557197307 CA3142001 |
270 | M>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs758740148 CA110731310 |
272 | D>E | No |
ClinGen gnomAD |
|
|
rs1307559470 CA358761951 |
275 | T>I | No |
ClinGen TOPMed |
|
|
CA3142003 rs767580733 |
276 | W>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA358761968 rs1183899636 |
276 | W>* | No |
ClinGen gnomAD |
|
|
rs1471483325 CA358761955 |
276 | W>R | No |
ClinGen gnomAD |
|
|
CA3142004 rs904843542 |
278 | N>S | No |
ClinGen TOPMed |
|
|
rs753944047 CA3142006 |
280 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA3142007 rs762020752 |
281 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs780963842 CA3142008 |
282 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780963842 CA358762677 |
282 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750713311 CA3142009 |
282 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750713311 CA358762682 |
282 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1307946473 CA358762705 |
284 | T>S | No |
ClinGen gnomAD |
|
|
CA3142011 rs144338962 |
285 | L>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3142012 rs751952559 |
288 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA3142013 rs755430063 |
292 | L>S | No |
ClinGen ExAC gnomAD |
|
|
rs1228668220 CA358762812 |
293 | S>P | No |
ClinGen gnomAD |
|
|
rs1231301062 CA358762840 |
295 | K>Q | No |
ClinGen gnomAD |
|
|
rs1198928558 CA358762934 |
296 | N>K | No |
ClinGen TOPMed |
|
|
rs201896904 CA110731965 |
301 | E>K | No |
ClinGen 1000Genomes TOPMed |
|
|
rs936473592 CA110731967 |
302 | F>L | No |
ClinGen Ensembl |
|
|
CA3142034 rs766611224 |
304 | E>D | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 306 | S>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs751901192 CA3142035 |
306 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA358763102 rs1468555327 |
307 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1187339662 CA358763120 |
308 | D>N | No |
ClinGen gnomAD |
|
|
rs755377344 CA3142036 |
309 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs768010166 CA3142037 |
310 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA3142039 rs756596771 |
312 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1456648130 CA358763227 |
313 | S>C | No |
ClinGen gnomAD |
|
|
CA3142042 rs201082388 |
315 | M>L | No |
ClinGen 1000Genomes ExAC |
|
|
CA3142041 rs201082388 |
315 | M>V | No |
ClinGen 1000Genomes ExAC |
|
|
CA110732012 rs374798060 |
320 | P>L | No |
ClinGen ESP TOPMed |
|
|
rs1383912195 CA358763398 |
321 | H>D | No |
ClinGen TOPMed gnomAD |
|
|
CA3142061 rs750037429 |
321 | H>R | No |
ClinGen ExAC gnomAD |
|
|
COSM1186700 rs1383912195 CA358763399 |
321 | H>Y | lung [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
rs1318207363 CA358765195 |
323 | K>Q | No |
ClinGen gnomAD |
|
|
CA110736374 rs930542274 |
323 | K>R | No |
ClinGen TOPMed |
|
|
CA3142062 rs758126417 |
324 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs1414645893 CA358765266 |
325 | E>A | No |
ClinGen TOPMed |
|
|
rs746801628 CA3142064 |
325 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3142067 rs768616179 |
327 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 329 | P>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1180297701 CA358765368 |
329 | P>T | No |
ClinGen gnomAD |
|
|
CA110736439 rs1001992888 |
331 | S>I | No |
ClinGen Ensembl |
|
|
CA3142070 rs749383797 |
333 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs1560916094 CA358765601 |
338 | Y>C | No |
ClinGen Ensembl |
|
|
CA3142072 rs774431221 |
339 | S>G | No |
ClinGen ExAC TOPMed |
|
|
rs759691146 CA3142073 |
339 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs772315902 CA3142074 |
340 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA358765645 rs1375021310 |
340 | T>I | No |
ClinGen gnomAD |
|
|
CA110736477 rs765639477 |
341 | A>E | No |
ClinGen Ensembl |
|
|
CA358765734 rs1300056915 |
345 | S>* | No |
ClinGen gnomAD |
|
|
rs896566037 CA110736480 |
346 | T>A | No |
ClinGen Ensembl |
|
|
CA3142076 rs760981883 |
346 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs764655297 CA3142077 |
348 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA358765780 rs143916729 |
349 | A>G | No |
ClinGen ESP ExAC gnomAD |
|
|
CA3142078 rs559494036 |
349 | A>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA3142079 rs143916729 |
349 | A>V | No |
ClinGen ESP ExAC gnomAD |
|
|
rs764771574 CA3142080 |
350 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs1234928388 CA358765796 |
351 | T>A | No |
ClinGen gnomAD |
|
|
CA3142082 rs368023588 |
351 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs368023588 CA3142081 |
351 | T>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3142084 rs751339095 |
352 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1443261688 CA358765828 |
354 | Y>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA358765854 rs1175450695 |
356 | G>R | No |
ClinGen gnomAD |
|
|
rs371826197 CA110736529 |
357 | L>V | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA3142085 rs754798130 |
358 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781178089 CA3142086 |
359 | E>* | No |
ClinGen ExAC gnomAD |
|
|
CA3142103 rs751229568 |
364 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs1579154775 CA358765996 COSM1053284 |
365 | T>A | endometrium [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs1363105043 CA358766035 |
367 | Q>H | No |
ClinGen gnomAD |
|
|
rs1467138461 CA358766070 |
369 | M>I | No |
ClinGen TOPMed |
|
|
CA358766082 rs1228054133 |
370 | E>G | No |
ClinGen gnomAD |
|
|
rs140179865 CA3142106 |
372 | M>I | No |
ClinGen 1000Genomes ExAC |
|
|
rs1310881334 CA358766132 |
373 | K>R | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 375 | M>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 375 | M>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1579154956 CA358766161 |
375 | M>T | No |
ClinGen Ensembl |
|
|
CA110736739 rs930341439 |
375 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
CA358766288 rs1286297148 |
378 | E>Q | No |
ClinGen gnomAD |
|
|
rs917842827 CA110737281 |
379 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
CA3142125 rs759074519 |
381 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs1188231162 CA358766377 |
384 | K>R | No |
ClinGen gnomAD |
|
|
rs1453865864 CA358766418 |
387 | N>D | No |
ClinGen gnomAD |
|
|
CA3142127 rs752471908 |
388 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3142128 rs755965843 |
389 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA358766479 rs1159833693 |
390 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA358766472 rs1579157799 |
390 | L>S | No |
ClinGen Ensembl |
|
|
CA358766486 rs1579157839 |
391 | L>Q | No |
ClinGen Ensembl |
2 associated diseases with Q9C0F1
[MIM: 614464]: Joubert syndrome 15 (JBTS15)
An autosomal recessive disorder presenting with cerebellar ataxia, oculomotor apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay. Neuroradiologically, it is characterized by cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar tooth sign). Additional variable features include retinal dystrophy, renal disease, liver fibrosis and polydactyly. {ECO:0000269|PubMed:22246503}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- An autosomal recessive disorder presenting with cerebellar ataxia, oculomotor apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay. Neuroradiologically, it is characterized by cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar tooth sign). Additional variable features include retinal dystrophy, renal disease, liver fibrosis and polydactyly. {ECO:0000269|PubMed:22246503}. Note=The disease is caused by variants affecting the gene represented in this entry.
11 regional properties for Q9C0F1
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Cadherin-like | 53 - 130 | IPR002126-1 |
| domain | Cadherin-like | 133 - 241 | IPR002126-2 |
| domain | Cadherin-like | 241 - 345 | IPR002126-3 |
| domain | Cadherin-like | 346 - 559 | IPR002126-4 |
| domain | Cadherin-like | 574 - 669 | IPR002126-5 |
| domain | Cadherin, N-terminal | 30 - 111 | IPR013164 |
| conserved_site | Cadherin conserved site | 229 - 239 | IPR020894-1 |
| conserved_site | Cadherin conserved site | 333 - 343 | IPR020894-2 |
| conserved_site | Cadherin conserved site | 437 - 447 | IPR020894-3 |
| conserved_site | Cadherin conserved site | 547 - 557 | IPR020894-4 |
| domain | Cadherin, cytoplasmic C-terminal domain | 684 - 766 | IPR032455 |
Functions
5 GO annotations of cellular component
| Name | Definition |
|---|---|
| centriole | A cellular organelle, found close to the nucleus in many eukaryotic cells, consisting of a small cylinder with microtubular walls, 300-500 nm long and 150-250 nm in diameter. It contains nine short, parallel, peripheral microtubular fibrils, each fibril consisting of one complete microtubule fused to two incomplete microtubules. Cells usually have two centrioles, lying at right angles to each other. At division, each pair of centrioles generates another pair and the twin pairs form the pole of the mitotic spindle. |
| centrosome | A structure comprised of a core structure (in most organisms, a pair of centrioles) and peripheral material from which a microtubule-based structure, such as a spindle apparatus, is organized. Centrosomes occur close to the nucleus during interphase in many eukaryotic cells, though in animal cells it changes continually during the cell-division cycle. |
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| midbody | A thin cytoplasmic bridge formed between daughter cells at the end of cytokinesis. The midbody forms where the contractile ring constricts, and may persist for some time before finally breaking to complete cytokinesis. |
| spindle pole | Either of the ends of a spindle, where spindle microtubules are organized; usually contains a microtubule organizing center and accessory molecules, spindle microtubules and astral microtubules. |
1 GO annotations of molecular function
| Name | Definition |
|---|---|
| microtubule binding | Binding to a microtubule, a filament composed of tubulin monomers. |
3 GO annotations of biological process
| Name | Definition |
|---|---|
| centriole replication | The cell cycle process in which a daughter centriole is formed perpendicular to an existing centriole. An immature centriole contains a ninefold radially symmetric array of single microtubules; mature centrioles consist of a radial array of nine microtubule triplets, doublets, or singlets depending upon the species and cell type. Duplicated centrioles also become the ciliary basal body in cells that form cilia during G0. |
| centriole-centriole cohesion | The cell cycle process in which the two centrioles within a centrosome remain tightly paired. |
| centrosome cycle | The cell cycle process in which centrosome duplication and separation takes place. The centrosome cycle can operate with a considerable degree of independence from other processes of the cell cycle. |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MATGDLKRSL | RNLEQVLRLL | NYPEEVDCVG | LIKGDPAASL | PIISYSFTSY | SPYVTELIME |
| 70 | 80 | 90 | 100 | 110 | 120 |
| SNVELIAKND | LRFIDAVYKL | LRDQFNYKPI | LTKKQFIQCG | FAEWKIQIVC | DILNCVMKKH |
| 130 | 140 | 150 | 160 | 170 | 180 |
| KELSSLQKIP | SQQRKKISSG | KSEPPLGNEK | ISAEAVGVDI | SGRFMTSGKK | KAVVIRHLYN |
| 190 | 200 | 210 | 220 | 230 | 240 |
| EDNVDISEDT | LSPITDVNEA | VDVSDLNATE | IKMPEVKVPE | IKAEQQDVNV | NPEITALQTM |
| 250 | 260 | 270 | 280 | 290 | 300 |
| LAECQENLKK | LTSIEKRLDC | LEQKMKGKVM | VDENTWTNLL | SRVTLLETEM | LLSKKNDEFI |
| 310 | 320 | 330 | 340 | 350 | 360 |
| EFNEVSEDYA | SCSDMDLLNP | HRKSEVERPA | SIPLSSGYST | ASSDSTPRAS | TVNYCGLNEI |
| 370 | 380 | ||||
| SEETTIQKME | RMKKMFEETA | ELLKCPNHYL |