Q86UT8
Gene name |
CENATAC |
Protein name |
Centrosomal AT-AC splicing factor |
Names |
Coiled-coil domain-containing protein 84 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:338657 |
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 Q86UT8
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q86UT8-F1 | Predicted | AlphaFoldDB |
338 variants for Q86UT8
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA6310610 rs781824691 |
2 | A>P | No |
ExAC gnomAD ClinGen |
|
|
rs1565655067 CA382912035 |
4 | A>V | No |
ClinGen Ensembl |
|
|
rs910925018 CA229638586 |
5 | Q>* | No |
TOPMed ClinGen |
|
|
rs781993939 CA229638590 |
6 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1565655102 CA382912061 |
6 | R>H | No |
ClinGen Ensembl |
|
|
CA382912054 rs781993939 |
6 | R>S | No |
TOPMed gnomAD ClinGen |
|
|
rs1291734519 CA382912066 |
7 | C>S | No |
TOPMed ClinGen |
|
|
CA6310612 rs782630034 |
7 | C>W | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA229638595 rs1043498787 |
7 | C>Y | No |
TOPMed gnomAD ClinGen |
|
|
rs1336743266 CA382912090 |
8 | P>L | No |
TOPMed gnomAD ClinGen |
|
|
CA6310614 rs1016045617 |
8 | P>S | No |
TOPMed ClinGen |
|
|
CA382912081 rs1016045617 |
8 | P>T | No |
TOPMed ClinGen |
|
|
rs373158845 CA6310616 |
9 | L>V | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA382912105 rs1486222603 |
10 | C>Y | No |
ClinGen gnomAD |
|
|
rs782696702 CA6310617 |
11 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs782696702 CA382912115 |
11 | R>G | No |
ExAC gnomAD ClinGen |
|
|
CA229638666 rs867717095 |
11 | R>H | No |
Ensembl ClinGen |
|
|
CA382912128 rs1461516194 |
12 | Q>H | No |
TOPMed ClinGen |
|
|
rs200075860 CA6310619 |
13 | T>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1185430081 CA382912142 |
13 | T>N | No |
ClinGen TOPMed |
|
|
CA382912159 rs1251634838 |
14 | F>S | No |
ClinGen TOPMed |
|
|
rs782106623 CA6310623 |
18 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs782106623 CA6310622 |
18 | R>S | No |
ClinGen ExAC gnomAD |
|
|
CA382912233 rs1179338618 |
19 | G>W | No |
ClinGen TOPMed |
|
|
rs1592041243 CA382912289 |
21 | V>F | No |
ClinGen Ensembl |
|
|
rs199921161 CA229638736 |
22 | Y>S | No |
ClinGen Ensembl |
|
|
CA382912344 rs782053254 |
24 | R>H | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA6310625 COSM3808519 rs782053254 |
24 | R>L | breast [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs782804370 CA6310626 |
25 | K>Q | No |
ExAC gnomAD ClinGen |
|
|
CA6310627 rs781888190 |
25 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA6310628 rs782132763 |
27 | Q>* | No |
ExAC gnomAD ClinGen |
|
|
rs1592041302 CA382912399 |
27 | Q>H | No |
Ensembl ClinGen |
|
|
rs782132763 CA6310629 |
27 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
rs896062537 CA229638753 |
28 | R>G | No |
ClinGen TOPMed |
|
|
CA382912419 rs1184993451 |
28 | R>Q | No |
TOPMed gnomAD ClinGen |
|
|
CA382912429 rs1395073979 |
29 | Q>* | No |
ClinGen gnomAD |
|
|
CA229638773 rs918885747 |
32 | E>A | No |
ClinGen Ensembl |
|
|
CA6310631 rs782460921 |
32 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1287515003 CA382912581 |
36 | R>G | No |
gnomAD ClinGen |
|
|
rs1317401752 CA382912587 |
36 | R>K | No |
ClinGen TOPMed gnomAD |
|
|
CA6310632 rs782589885 |
36 | R>S | No |
ClinGen ExAC gnomAD |
|
|
CA382912605 rs1254265344 |
37 | L>H | No |
gnomAD ClinGen |
|
|
CA229638788 rs1044379492 |
37 | L>V | No |
ClinGen TOPMed |
|
|
CA6310634 rs782555307 |
39 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA382912632 rs372983214 |
39 | P>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6310633 rs372983214 |
39 | P>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1471804365 CA382912648 |
40 | Q>* | No |
TOPMed gnomAD ClinGen |
|
|
CA382912644 rs1471804365 |
40 | Q>K | No |
TOPMed gnomAD ClinGen |
|
|
rs1592041414 CA382912649 |
40 | Q>P | No |
ClinGen Ensembl |
|
|
rs201382314 CA6310657 |
41 | V>G | No |
ExAC gnomAD ClinGen |
|
|
rs1427356997 CA382912710 |
41 | V>M | No |
TOPMed gnomAD ClinGen |
|
|
CA6310659 rs782641930 |
42 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs1366764368 CA382912734 |
43 | A>G | No |
gnomAD ClinGen |
|
|
CA6310660 rs782243265 |
43 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA382912748 rs1305638930 |
45 | R>C | No |
gnomAD ClinGen |
|
|
rs562464017 CA382912749 |
45 | R>H | No |
1000Genomes ExAC TOPMed gnomAD ClinGen |
|
|
rs562464017 CA6310663 |
45 | R>L | No |
1000Genomes ExAC TOPMed gnomAD ClinGen |
|
|
CA382912754 rs562464017 |
45 | R>P | No |
1000Genomes ExAC TOPMed gnomAD ClinGen |
|
|
CA382912792 rs1274024284 |
47 | A>S | No |
gnomAD ClinGen |
|
|
rs782031776 CA6310665 |
49 | R>G | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs370851953 CA6310666 |
49 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs370851953 CA382912822 |
49 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA382912833 rs1455927254 |
50 | A>S | No |
TOPMed ClinGen |
|
|
rs1469249886 CA382912840 |
50 | A>V | No |
gnomAD ClinGen |
|
|
CA229638971 rs781975206 |
51 | A>P | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs781975206 CA6310668 |
51 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ExAC TOPMed gnomAD ClinGen NCI-TCGA |
|
rs782088897 CA6310669 |
52 | Q>R | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs1592042028 CA382912893 |
53 | V>G | No |
ClinGen Ensembl |
|
|
rs782720687 CA6310670 |
53 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA6310672 rs574488069 |
55 | R>P | No |
1000Genomes ExAC gnomAD ClinGen |
|
|
CA6310673 rs782554719 |
56 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA382912934 rs782554719 |
56 | Y>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1411325072 CA382912942 |
57 | V>M | No |
gnomAD ClinGen |
|
|
rs541867889 CA6310674 |
58 | P>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs541867889 CA382912964 |
58 | P>S | No |
1000Genomes ExAC gnomAD ClinGen |
|
|
rs923703174 CA229639025 |
61 | E>G | No |
TOPMed ClinGen |
|
|
rs782494985 CA382912997 |
62 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782494985 CA6310676 |
62 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs527454301 CA6310677 |
64 | C>Y | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA382913028 rs1430160813 |
65 | W>R | No |
TOPMed gnomAD ClinGen |
|
|
rs782205675 CA6310678 |
65 | W>S | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA382913042 rs1200927310 |
66 | C>G | No |
ClinGen Ensembl |
|
|
CA382913065 rs782453291 |
68 | C>F | No |
ExAC gnomAD ClinGen |
|
|
rs782453291 CA6310679 |
68 | C>Y | No |
ExAC gnomAD ClinGen |
|
|
rs917425937 CA229639066 |
70 | G>D | No |
ClinGen TOPMed |
|
|
CA229639069 rs148851960 |
71 | C>W | No |
ClinGen Ensembl |
|
|
CA6310680 rs782747146 |
72 | E>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA382913120 rs1592042191 |
73 | V>G | No |
Ensembl ClinGen |
|
|
rs374336321 CA6310681 |
73 | V>L | No |
ClinGen ESP ExAC TOPMed |
|
|
CA382913130 rs1359523573 |
74 | R>Q | No |
ClinGen TOPMed |
|
|
rs1592042225 CA382913141 |
75 | E>G | No |
Ensembl ClinGen |
|
|
rs782402353 CA6310683 |
75 | E>K | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA382913172 rs1216091161 |
78 | S>N | No |
ClinGen gnomAD |
|
|
CA6310684 rs368727870 |
79 | H>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA229639088 rs1044681005 |
80 | G>R | No |
TOPMed gnomAD ClinGen |
|
|
CA382913239 rs1242228685 |
83 | T>M | No |
gnomAD ClinGen |
|
|
CA229639104 rs1013120401 |
84 | V>A | No |
Ensembl ClinGen |
|
|
rs1179773060 CA382913243 |
84 | V>M | No |
gnomAD ClinGen |
|
|
CA229639107 rs1016843588 |
85 | L>P | No |
TOPMed ClinGen |
|
|
CA229639147 rs372399464 |
86 | Y>* | No |
ESP TOPMed ClinGen |
|
|
CA382913265 rs1374906177 |
86 | Y>H | No |
ClinGen TOPMed |
|
|
rs781789455 CA6310687 |
86 | Y>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA382913286 rs1166977129 |
87 | G>A | No |
gnomAD ClinGen |
|
|
rs782050456 CA382913280 |
87 | G>R | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs782050456 CA6310688 |
87 | G>W | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs552070057 CA6310689 |
88 | G>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1446073278 CA382913329 |
91 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
rs782135781 CA6310692 |
92 | H>Q | No |
ExAC gnomAD ClinGen |
|
|
rs782765437 CA6310693 |
93 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA382913381 rs1329036916 |
94 | A>S | No |
ClinGen gnomAD |
|
|
rs782100370 CA6310709 |
99 | K>T | No |
ClinGen ExAC gnomAD |
|
|
rs140617350 CA6310710 |
102 | T>I | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA6310712 rs373436467 |
103 | N>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6310711 rs781938150 |
103 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782816552 CA6310713 |
105 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs1329813775 CA382913703 |
106 | W>* | No |
TOPMed gnomAD ClinGen |
|
|
CA229639564 rs1006668326 |
107 | W>* | No |
TOPMed ClinGen |
|
|
rs1440820230 CA382913734 |
107 | W>* | No |
ClinGen gnomAD |
|
|
rs977907421 CA229639570 |
111 | A>T | No |
Ensembl ClinGen |
|
|
rs1301986103 CA382913873 |
112 | E>D | No |
TOPMed gnomAD ClinGen |
|
|
rs1312142717 CA382913883 |
113 | V>F | No |
TOPMed ClinGen |
|
|
rs1316473732 CA382913908 |
114 | Q>H | No |
gnomAD ClinGen |
|
| TCGA novel | 115 | M>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6310715 rs782126485 |
116 | K>T | No |
ExAC ClinGen |
|
|
CA382913959 rs1273748323 |
117 | E>Q | No |
TOPMed ClinGen |
|
|
rs141547874 CA229639576 |
118 | K>* | No |
ClinGen ESP |
|
|
rs782756241 CA6310716 |
119 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA229639583 rs782447292 |
121 | V>F | No |
ClinGen gnomAD |
|
|
CA382914045 rs782447292 |
121 | V>I | No |
gnomAD ClinGen |
|
|
rs1196110844 CA382914090 |
123 | P>S | No |
ClinGen gnomAD |
|
|
CA382914140 rs1274895986 |
125 | D>N | No |
gnomAD ClinGen |
|
|
CA6310719 rs375803206 |
128 | R>* | No |
ESP ExAC gnomAD ClinGen |
|
|
rs1160272095 CA382917289 |
129 | F>L | No |
TOPMed ClinGen |
|
|
CA382917298 rs1317567796 |
130 | K>R | No |
TOPMed gnomAD ClinGen |
|
|
CA6310743 rs199859594 |
131 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1260036760 CA382917387 |
133 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
CA382917382 rs1211882965 |
133 | M>T | No |
ClinGen gnomAD |
|
|
rs782564969 CA6310745 |
133 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs1378157960 CA382917411 |
134 | V>A | No |
TOPMed ClinGen |
|
|
rs1565667385 CA382917430 |
136 | G>R | No |
ClinGen Ensembl |
|
| TCGA novel | 136 | G>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs973574569 CA229653615 |
138 | D>G | No |
ClinGen Ensembl |
|
|
rs920308063 CA229653646 |
139 | S>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs189873299 CA6310747 |
140 | Y>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs189873299 CA382917542 |
140 | Y>F | No |
1000Genomes ExAC TOPMed gnomAD ClinGen |
|
|
CA6310748 rs782655248 |
141 | E>G | No |
ExAC TOPMed gnomAD ClinGen |
|
| TCGA novel | 143 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA229653668 rs983112742 |
144 | E>K | No |
TOPMed gnomAD ClinGen |
|
|
CA382917706 rs983112742 |
144 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA229653671 rs911845324 |
145 | D>N | No |
ClinGen TOPMed |
|
| TCGA novel | 149 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6310750 rs782350954 |
150 | E>A | No |
ClinGen ExAC |
|
|
rs550351597 CA229653676 |
150 | E>Q | No |
ClinGen 1000Genomes |
|
|
CA6310776 rs781932545 |
152 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ExAC TOPMed gnomAD ClinGen NCI-TCGA |
|
rs995447159 CA229654168 |
153 | A>T | No |
ClinGen Ensembl |
|
|
CA382918242 rs1309697430 |
154 | Q>P | No |
gnomAD ClinGen |
|
|
rs202215150 CA6310778 |
156 | R>C | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs782301681 CA6310779 |
156 | R>H | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA382918369 rs1592073074 |
158 | V>G | No |
Ensembl ClinGen |
|
|
rs782128788 CA6310780 |
158 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA229654207 rs782016648 |
161 | S>N | No |
ClinGen gnomAD |
|
|
CA6310782 rs200584267 |
161 | S>R | No |
1000Genomes ExAC gnomAD ClinGen |
|
|
rs1419960688 CA382918465 |
162 | R>* | No |
ClinGen gnomAD |
|
|
rs369310743 CA6310783 |
162 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs782719153 CA6310784 |
163 | Q>H | No |
ExAC gnomAD ClinGen |
|
|
CA382918513 rs1461926206 |
164 | E>D | No |
TOPMed gnomAD ClinGen |
|
|
rs781908854 CA6310785 |
164 | E>Q | No |
ClinGen ExAC |
|
|
rs782647917 CA6310786 |
164 | E>V | No |
ClinGen ExAC gnomAD |
|
|
CA382918555 rs1592073154 |
165 | V>G | No |
Ensembl ClinGen |
|
|
rs1452130998 CA382918580 |
166 | V>A | No |
ClinGen TOPMed |
|
|
rs782655675 CA6310787 |
166 | V>L | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA6310790 rs782492332 |
167 | R>L | No |
ExAC TOPMed gnomAD ClinGen |
|
|
COSM1200064 CA6310789 rs782492332 |
167 | R>Q | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA6310788 COSM131121 rs781857579 |
167 | R>W | liver [Cosmic] | No |
ExAC TOPMed gnomAD ClinGen cosmic curated |
|
rs782306579 CA6310792 |
168 | S>Y | No |
ExAC gnomAD ClinGen |
|
|
CA382918677 rs782271351 |
170 | L>* | No |
ClinGen ExAC gnomAD |
|
|
CA6310793 rs782690439 |
170 | L>I | No |
ExAC gnomAD ClinGen |
|
|
rs782271351 CA6310794 |
170 | L>S | No |
ClinGen ExAC gnomAD |
|
|
CA6310815 rs782236727 |
172 | P>L | No |
ExAC gnomAD ClinGen |
|
|
CA382918968 rs1226495293 |
174 | A>G | No |
TOPMed ClinGen |
|
|
rs1231053757 CA382918992 |
175 | V>L | No |
gnomAD ClinGen |
|
|
CA6310816 rs782479215 |
176 | P>A | No |
ExAC gnomAD ClinGen |
|
|
CA6310817 rs145295890 |
177 | D>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1177787213 CA382919034 |
177 | D>N | No |
ClinGen gnomAD |
|
|
CA6310819 rs782193641 |
178 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782193641 CA6310818 |
178 | P>T | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA382919071 rs1565668681 |
179 | E>K | No |
Ensembl ClinGen |
|
|
rs1397667999 CA382919150 |
181 | G>V | No |
ClinGen TOPMed |
|
|
rs1327297487 CA382919236 |
185 | P>R | No |
gnomAD ClinGen |
|
|
CA382919233 rs1416567961 |
185 | P>S | No |
gnomAD ClinGen |
|
|
rs782023120 CA6310821 |
188 | W>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6310822 rs782265485 |
192 | N>H | No |
ExAC gnomAD ClinGen |
|
|
rs782448786 CA229658401 |
194 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA382919905 rs1592075422 |
195 | V>A | No |
Ensembl ClinGen |
|
|
rs147652491 CA6310836 |
195 | V>L | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs1467102265 CA382919926 |
196 | A>G | No |
gnomAD ClinGen |
|
|
CA6310837 rs782285037 |
196 | A>T | No |
ExAC gnomAD ClinGen |
|
|
rs1565668906 CA382919937 |
197 | S>C | No |
Ensembl ClinGen |
|
|
rs1565668906 CA382919936 |
197 | S>Y | No |
ClinGen Ensembl |
|
|
rs782524411 CA6310839 |
199 | L>F | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs1438385143 CA382919989 |
200 | Q>* | No |
ClinGen TOPMed |
|
|
CA382920036 rs1565668956 |
201 | Q>* | No |
ClinGen Ensembl |
|
|
rs782632466 CA6310840 |
203 | S>L | No |
ClinGen ExAC gnomAD |
|
|
rs782340360 CA382920119 |
205 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA382920160 rs1592075516 |
206 | D>A | No |
Ensembl ClinGen |
|
|
rs1041006327 CA229658430 |
210 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1416247205 CA382920249 |
212 | E>G | No |
ClinGen gnomAD |
|
|
CA6310844 rs781940512 |
212 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA382920313 rs1189245923 |
215 | W>* | No |
TOPMed ClinGen |
|
|
CA382920324 rs1324580527 |
216 | M>L | No |
ClinGen TOPMed gnomAD |
|
|
CA382920321 rs1324580527 |
216 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
CA382920390 rs1390891414 |
218 | T>K | No |
gnomAD ClinGen |
|
|
rs535130498 CA6310845 |
220 | P>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA382920433 rs1315868025 |
221 | S>F | No |
gnomAD ClinGen |
|
|
rs1325626359 CA382920459 |
223 | T>R | No |
gnomAD ClinGen |
|
|
rs782426189 CA6310846 |
224 | F>L | No |
ExAC gnomAD ClinGen |
|
|
CA6310847 rs782017698 |
225 | I>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6310848 rs782017698 |
225 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA229658440 rs782758434 |
225 | I>V | No |
Ensembl ClinGen |
|
|
CA382920507 rs1232622451 |
226 | G>D | No |
TOPMed gnomAD ClinGen |
|
|
CA382920515 rs1358608182 |
227 | H>N | No |
TOPMed gnomAD ClinGen |
|
|
CA382920526 rs1298808550 |
227 | H>R | No |
TOPMed ClinGen |
|
| rs781960489 | 228 | Q>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6310884 rs563859324 |
229 | D>N | No |
1000Genomes ExAC TOPMed gnomAD ClinGen |
|
|
CA382920713 rs1253482551 |
230 | I>V | No |
TOPMed ClinGen |
|
|
rs1377797305 CA382920725 |
231 | P>T | No |
gnomAD ClinGen |
|
|
CA382920752 rs1242582285 |
233 | V>I | No |
gnomAD ClinGen |
|
|
rs1260361812 CA382920781 |
235 | N>D | No |
TOPMed ClinGen |
|
|
CA382920786 rs76783804 |
235 | N>S | No |
ExAC gnomAD ClinGen |
|
|
CA6310885 rs76783804 |
235 | N>T | No |
ExAC gnomAD ClinGen |
|
|
CA6310888 rs782488014 |
237 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA229659742 rs200747735 |
238 | S>L | No |
ClinGen 1000Genomes TOPMed |
|
|
rs782184217 CA6310931 |
240 | A>D | No |
ExAC gnomAD ClinGen |
|
|
CA382921410 rs1437413390 |
240 | A>T | No |
ClinGen gnomAD |
|
|
CA6310932 rs782421169 |
242 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs600648 VAR_029848 CA229661625 |
244 | W>G | No |
ClinGen UniProt Ensembl dbSNP |
|
|
rs782018753 CA6310933 |
246 | I>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs375235213 CA229661627 |
246 | I>N | No |
ESP TOPMed ClinGen |
|
|
rs560685835 CA229661629 |
247 | Q>K | No |
1000Genomes TOPMed ClinGen |
|
|
CA382921529 rs1226508896 |
248 | D>N | No |
ClinGen TOPMed |
|
|
rs143147723 CA6310935 |
249 | E>D | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA382921552 rs1320566609 |
249 | E>K | No |
TOPMed gnomAD ClinGen |
|
| TCGA novel | 251 | Y>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6310938 rs781967187 |
252 | I>S | No |
ClinGen ExAC gnomAD |
|
|
rs1320663036 CA382921595 |
252 | I>V | No |
ClinGen gnomAD |
|
|
CA382921627 rs1484691160 |
254 | G>E | No |
ClinGen gnomAD |
|
|
rs782077969 CA6310939 |
254 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA382921652 rs527738305 |
256 | Q>* | No |
1000Genomes ExAC TOPMed gnomAD ClinGen |
|
|
rs527738305 CA6310940 |
256 | Q>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6310941 rs527738305 |
256 | Q>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6310942 rs552747259 |
256 | Q>R | No |
1000Genomes ExAC TOPMed gnomAD ClinGen |
|
|
CA6310943 rs782791132 |
257 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs371797960 CA229661681 |
258 | I>R | No |
ClinGen TOPMed |
|
|
CA229661676 rs371797960 |
258 | I>T | No |
TOPMed ClinGen |
|
|
CA382921705 rs1184656764 |
259 | G>E | No |
ClinGen TOPMed |
|
|
CA6310946 CA229661690 rs782502920 |
259 | G>R | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs1343618505 CA382921711 |
260 | P>T | No |
ClinGen gnomAD |
|
|
CA6310948 rs781811320 |
261 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs782437414 COSM923694 CA6310949 |
264 | E>K | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ExAC TOPMed gnomAD ClinGen cosmic curated NCI-TCGA |
| TCGA novel | 265 | F>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA382921836 rs1413470102 |
266 | L>F | No |
gnomAD ClinGen |
|
|
CA382921833 COSM428528 rs1413470102 |
266 | L>V | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
gnomAD ClinGen cosmic curated NCI-TCGA |
|
CA382921843 rs899354415 |
267 | K>* | No |
ClinGen TOPMed gnomAD |
|
|
CA229661695 rs899354415 |
267 | K>E | No |
TOPMed gnomAD ClinGen |
|
|
rs370905829 CA6310952 |
268 | E>G | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs782685571 CA6310951 |
268 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs370905829 CA382921889 |
268 | E>V | No |
ESP TOPMed gnomAD ClinGen |
|
|
CA229661705 rs782423969 |
269 | K>Q | No |
ClinGen Ensembl |
|
|
CA382922685 rs1295922796 |
270 | E>K | No |
ClinGen TOPMed |
|
|
CA229661911 rs1008873254 |
271 | K>E | No |
ClinGen TOPMed |
|
|
rs975544597 CA229661914 |
271 | K>R | No |
TOPMed gnomAD ClinGen |
|
|
rs1555187647 CA6310994 |
272 | Q>H | No |
ClinGen Ensembl |
|
|
CA232401 RCV000122595 rs386352288 |
272 | Q>R | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1220864017 CA382922867 |
273 | K>R | No |
ClinGen gnomAD |
|
|
CA6310998 rs782404744 |
274 | L>V | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA229661928 rs964767391 |
277 | L>I | No |
TOPMed gnomAD ClinGen |
|
|
rs782120998 CA6311000 |
277 | L>P | No |
ClinGen ExAC TOPMed |
|
| TCGA novel | 278 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA229661930 rs868712764 |
278 | P>T | No |
Ensembl ClinGen |
|
|
rs781823420 CA6311002 |
279 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781823420 CA6311003 |
279 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs373690810 CA6311001 |
279 | P>S | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs782705067 CA6311004 |
280 | D>E | No |
ExAC gnomAD ClinGen |
|
|
CA382923049 rs1448653955 |
280 | D>H | No |
ClinGen TOPMed |
|
| rs1214317268 | 280 | D>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 280 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6311005 rs367702790 |
281 | R>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs371758182 CA382923073 |
281 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6311006 rs371758182 |
281 | R>Q | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs782477975 CA6311009 |
282 | V>A | No |
ExAC gnomAD ClinGen |
|
|
rs782477975 CA382923111 |
282 | V>G | No |
ExAC gnomAD ClinGen |
|
|
CA6311008 rs543989276 |
282 | V>I | No |
1000Genomes ExAC gnomAD ClinGen |
|
|
rs1489079752 CA382923115 |
283 | G>R | No |
ClinGen gnomAD |
|
|
rs1209660225 CA382923166 |
284 | A>V | No |
ClinGen gnomAD |
|
|
rs782424650 CA382923225 |
286 | F>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ExAC TOPMed gnomAD ClinGen NCI-TCGA |
|
rs782424650 CA6311012 |
286 | F>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1276105829 CA382923381 |
291 | R>S | No |
gnomAD ClinGen |
|
|
CA382923428 rs1178800001 |
293 | S>R | No |
ClinGen gnomAD |
|
|
CA382923476 rs1272926948 |
295 | G>D | No |
ClinGen TOPMed |
|
|
rs782382177 CA6311015 |
297 | L>P | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs781970005 CA6311016 |
299 | S>A | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 300 | F>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1379155736 CA382923558 |
300 | F>Y | No |
gnomAD ClinGen |
|
|
rs782081346 CA6311017 |
302 | R>C | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs782325490 CA6311018 |
302 | R>H | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs782325490 CA6311019 |
302 | R>P | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs1191430788 CA382923631 |
303 | V>I | No |
TOPMed gnomAD ClinGen |
|
|
rs782778637 CA6311021 |
304 | W>R | No |
ExAC gnomAD ClinGen |
|
|
CA6311023 rs782106751 |
305 | N>K | No |
ExAC gnomAD ClinGen |
|
|
rs150323701 CA6311022 |
305 | N>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs200160466 CA6311024 |
308 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6311025 rs782098408 |
308 | R>H | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA6311026 rs137880438 |
309 | R>C | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs1164892799 CA382923735 |
310 | W>* | No |
TOPMed ClinGen |
|
|
rs1296094282 CA382923770 |
311 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
CA6311028 rs782818395 |
313 | R>G | No |
ExAC gnomAD ClinGen |
|
|
CA229661995 rs941039501 |
313 | R>K | No |
ClinGen TOPMed |
|
|
CA6311052 rs377583343 |
314 | H>Y | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA382923944 rs1220020580 |
317 | K>R | No |
TOPMed ClinGen |
|
| TCGA novel | 318 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs782677187 CA6311056 |
320 | A>T | No |
ExAC gnomAD ClinGen |
|
|
rs1256236275 CA382924011 |
320 | A>V | No |
ClinGen gnomAD |
|
|
CA6311057 rs200262306 |
321 | A>V | No |
ExAC gnomAD ClinGen |
|
|
CA6311058 rs568817363 |
322 | A>G | No |
1000Genomes ExAC gnomAD ClinGen |
|
|
rs1176255213 CA382924034 |
322 | A>T | No |
ClinGen gnomAD |
|
|
rs782223204 CA6311061 |
323 | M>I | No |
ExAC gnomAD ClinGen |
|
|
rs1565673790 CA382924058 |
323 | M>K | No |
ClinGen Ensembl |
|
|
CA6311059 rs181791793 |
323 | M>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs186379534 CA6311062 |
324 | K>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6311063 rs781934290 |
325 | K>Q | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA6311064 rs782292570 |
326 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs996009597 CA229662052 |
327 | S>P | No |
Ensembl ClinGen |
|
|
CA382924201 CA6311069 rs782124473 |
330 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782013262 CA6311068 |
330 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6311070 rs782367365 |
331 | K>R | No |
ExAC gnomAD ClinGen |
|
| TCGA novel | 332 | S>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs781792161 CA6311065 |
333 | S>C | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA382924247 rs375684853 |
333 | S>S | No |
ClinGen ESP ExAC gnomAD |
No associated diseases with Q86UT8
No regional properties for Q86UT8
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| No domain, repeats, and functional sites for Q86UT8 | |||
Functions
2 GO annotations of cellular component
| Name | Definition |
|---|---|
| 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. |
No GO annotations of molecular function
| Name | Definition |
|---|---|
| No GO annotations for molecular function |
2 GO annotations of biological process
| Name | Definition |
|---|---|
| negative regulation of centrosome duplication | Any process that decreases the frequency, rate or extent of centrosome duplication. Centrosome duplication is the replication of a centrosome, a structure comprised of a pair of centrioles and peri-centriolar material from which a microtubule spindle apparatus is organized. |
| regulation of protein catabolic process | Any process that modulates the frequency, rate or extent of the chemical reactions and pathways resulting in the breakdown of a protein by the destruction of the native, active configuration, with or without the hydrolysis of peptide bonds. |
1 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q4VA36 | Cenatac | Centrosomal AT-AC splicing factor | Mus musculus (Mouse) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MAPAQRCPLC | RQTFFCGRGH | VYSRKHQRQL | KEALERLLPQ | VEAARKAIRA | AQVERYVPEH |
| 70 | 80 | 90 | 100 | 110 | 120 |
| ERCCWCLCCG | CEVREHLSHG | NLTVLYGGLL | EHLASPEHKK | ATNKFWWENK | AEVQMKEKFL |
| 130 | 140 | 150 | 160 | 170 | 180 |
| VTPQDYARFK | KSMVKGLDSY | EEKEDKVIKE | MAAQIREVEQ | SRQEVVRSVL | EPQAVPDPEE |
| 190 | 200 | 210 | 220 | 230 | 240 |
| GSSAPRSWKG | MNSQVASSLQ | QPSNLDLPPA | PELDWMETGP | SLTFIGHQDI | PGVGNIHSGA |
| 250 | 260 | 270 | 280 | 290 | 300 |
| TPPWMIQDEE | YIAGNQEIGP | SYEEFLKEKE | KQKLKKLPPD | RVGANFDHSS | RTSAGWLPSF |
| 310 | 320 | 330 | |||
| GRVWNNGRRW | QSRHQFKTEA | AAMKKQSHTE | KS |