Q8WWU5
Gene name |
TCP11 |
Protein name |
T-complex protein 11 homolog |
Names |
|
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:6954 |
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 Q8WWU5
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q8WWU5-F1 | Predicted | AlphaFoldDB |
370 variants for Q8WWU5
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs1456414354 CA363750779 |
2 | P>A | No |
ClinGen gnomAD |
|
|
rs899863200 CA137258825 |
4 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA3769063 rs750735988 |
5 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs1229709552 CA363750713 |
6 | E>K | No |
ClinGen gnomAD |
|
|
CA363750701 rs1162775199 |
7 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
rs561197879 CA137258820 |
9 | P>L | No |
ClinGen 1000Genomes |
|
|
CA363750672 rs1359571825 |
9 | P>S | No |
ClinGen TOPMed |
|
|
rs1439866290 CA363750659 |
10 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA363750641 rs1323930663 |
12 | Y>H | No |
ClinGen gnomAD |
|
|
CA3769061 rs762189731 |
13 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA363750620 rs1381928600 |
13 | P>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA3769060 rs774496499 |
14 | G>C | No |
ClinGen ExAC gnomAD |
|
|
CA3769055 rs543124451 |
18 | G>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs763012661 CA3769056 |
18 | G>S | No |
ClinGen ExAC |
|
|
CA3769053 rs200719262 |
19 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3769052 rs772842447 |
19 | R>M | No |
ClinGen ExAC gnomAD |
|
|
rs201851411 CA3769051 |
20 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 21 | C>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3769049 rs201458023 |
21 | C>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA3769045 rs755782847 |
28 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3769043 rs767710443 |
28 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3769044 rs767710443 |
28 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3769046 rs755782847 |
28 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA363750347 rs755782847 |
28 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3769042 rs757626295 |
29 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA3769039 rs763065536 |
30 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA3769038 rs775498454 |
30 | Q>P | No |
ClinGen ExAC TOPMed |
|
|
rs775498454 CA137258679 |
30 | Q>R | No |
ClinGen ExAC TOPMed |
|
|
rs35693439 CA3769035 |
32 | D>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs765473542 CA3769036 |
32 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA3769034 rs773071336 |
35 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs747971863 CA3769032 |
36 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA3769030 rs768692818 |
37 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs748833848 CA363750171 |
38 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779675502 CA363750167 |
39 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3769028 rs779675502 |
39 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA137258630 rs960823929 |
40 | P>R | No |
ClinGen TOPMed |
|
|
CA3769026 rs745455902 |
40 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs909615555 CA137258613 |
41 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA137258607 rs1030887195 |
42 | F>V | No |
ClinGen TOPMed |
|
|
CA363748734 rs1393925509 |
45 | V>F | No |
ClinGen gnomAD |
|
|
rs374601449 CA137255795 |
47 | G>D | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs754716204 CA3768945 |
49 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 50 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs370605224 CA3768943 |
51 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3768940 rs199809733 |
52 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3768939 rs767188052 |
53 | N>H | No |
ClinGen ExAC gnomAD |
|
|
CA3768937 rs774597120 |
56 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA137255728 rs202046288 |
57 | K>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3768936 rs202046288 |
57 | K>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA137255724 rs1024658371 |
58 | L>M | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 61 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA363748518 rs904401585 |
64 | M>R | No |
ClinGen TOPMed gnomAD |
|
|
CA137255719 rs904401585 |
64 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1405121684 CA363748498 |
66 | C>S | No |
ClinGen gnomAD |
|
|
rs1170864520 CA363748496 |
66 | C>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA363748458 rs1426080139 |
69 | Y>C | No |
ClinGen TOPMed |
|
|
CA3768933 rs776111702 |
70 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3768932 rs770373406 |
71 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs529870463 CA3768931 |
73 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA363748406 rs1562008782 |
74 | V>F | No |
ClinGen Ensembl |
|
|
rs200759685 CA3768930 |
76 | P>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA363748385 rs1345817697 |
76 | P>S | No |
ClinGen gnomAD |
|
|
rs1399436117 CA363748373 |
77 | P>L | No |
ClinGen gnomAD |
|
|
CA3768929 rs771291103 |
78 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA3768928 rs747313916 |
79 | S>G | No |
ClinGen ExAC |
|
|
CA363748356 rs1174638457 |
79 | S>N | No |
ClinGen gnomAD |
|
|
CA363747770 rs1562000718 |
80 | L>P | No |
ClinGen Ensembl |
|
|
CA363747730 rs1475863816 |
82 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1053898388 CA137252679 |
86 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
rs561528550 CA137252671 |
87 | T>I | No |
ClinGen Ensembl |
|
|
CA3768912 rs147549679 |
88 | V>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA363747592 rs1398339111 |
88 | V>M | No |
ClinGen TOPMed |
|
|
rs760059724 CA3768910 |
90 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA3768908 rs771201385 |
90 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA3768909 rs201795646 |
90 | N>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA363747473 rs1386568512 |
94 | D>E | No |
ClinGen TOPMed |
|
|
rs778104076 CA3768906 |
102 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs145037860 CA3768905 |
102 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1353997193 CA363747318 |
104 | P>A | No |
ClinGen gnomAD |
|
|
rs1300260237 CA363747312 |
104 | P>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA137252635 rs962728918 |
105 | P>S | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 106 | D>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3768903 rs368275334 |
106 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA137252609 rs866816400 |
108 | S>I | No |
ClinGen Ensembl |
|
|
CA137252606 rs1016966105 |
109 | C>R | No |
ClinGen TOPMed |
|
|
CA363747207 rs1167831775 |
111 | L>I | No |
ClinGen TOPMed gnomAD |
|
|
CA363747206 rs1167831775 |
111 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA137252605 rs980154902 |
112 | E>G | No |
ClinGen TOPMed |
|
|
rs1462583250 CA363747170 |
114 | L>R | No |
ClinGen gnomAD |
|
| TCGA novel | 120 | I>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs894732301 CA137249615 |
125 | L>V | No |
ClinGen Ensembl |
|
|
rs144320775 CA3768880 |
128 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3768878 rs746528793 |
128 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3768879 rs746528793 |
128 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs899153308 CA137249581 |
129 | Q>K | No |
ClinGen Ensembl |
|
|
CA3768876 rs757908827 |
131 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs150752841 CA3768875 COSM186289 |
131 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs150752841 CA363746599 |
131 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3768874 rs558253635 |
133 | R>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1384595465 CA363746565 |
135 | E>A | No |
ClinGen TOPMed gnomAD |
|
|
rs755441742 CA3768873 |
136 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1289422334 CA363746519 |
138 | E>A | No |
ClinGen gnomAD |
|
|
CA3768872 rs754205823 |
139 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA3768871 rs539582879 |
141 | D>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA363746496 rs1443040177 |
141 | D>Y | No |
ClinGen TOPMed |
|
|
CA3768870 rs200041132 |
142 | M>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs940755138 CA137249550 |
142 | M>V | No |
ClinGen Ensembl |
|
|
rs1454501884 CA363746462 |
143 | D>N | No |
ClinGen gnomAD |
|
|
CA363746439 COSM596158 rs142915532 |
144 | L>F | lung [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1051381139 CA137249540 |
145 | L>F | No |
ClinGen Ensembl |
|
|
CA3768868 rs767553081 |
146 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs761880060 CA3768867 |
147 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA363746407 rs1263910503 |
147 | Q>R | No |
ClinGen gnomAD |
|
|
rs1166732028 CA363746379 |
149 | A>S | No |
ClinGen TOPMed |
|
|
rs1327578490 CA363746375 |
149 | A>V | No |
ClinGen gnomAD |
|
|
rs1561992858 CA363746364 |
150 | E>G | No |
ClinGen Ensembl |
|
|
rs768848363 CA3768865 |
151 | H>P | No |
ClinGen ExAC gnomAD |
|
|
CA3768864 rs375000730 |
153 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3768863 rs776337343 |
155 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA363746292 rs1348995170 |
156 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA3768862 rs770912471 |
157 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs139258646 CA3768860 |
158 | Y>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs139258646 CA363746263 |
158 | Y>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1295666803 CA363746238 |
160 | S>C | No |
ClinGen gnomAD |
|
|
rs1295666803 CA363746236 |
160 | S>F | No |
ClinGen gnomAD |
|
|
rs757885410 CA3768859 |
161 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA3768858 rs747639934 |
161 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754639015 CA3768856 |
163 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs372296449 CA3768855 |
165 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA363746177 rs199753305 |
166 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3768854 rs199753305 |
166 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3768853 rs756489956 |
167 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1427930390 CA363746147 |
170 | L>Q | No |
ClinGen gnomAD |
|
| TCGA novel | 172 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA363746126 rs1486230309 |
173 | P>L | No |
ClinGen gnomAD |
|
|
rs768039790 CA3768851 |
173 | P>T | No |
ClinGen ExAC gnomAD |
|
|
COSM1078295 rs199835007 CA3768849 |
175 | R>* | endometrium [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
CA3768850 rs199835007 |
175 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs750331817 CA137249431 |
175 | R>P | No |
ClinGen ExAC gnomAD |
|
|
rs750331817 CA3768848 |
175 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA137249428 rs977179353 |
176 | D>G | No |
ClinGen Ensembl |
|
|
rs1191640351 CA363746100 |
178 | A>V | No |
ClinGen TOPMed |
|
|
COSM3366476 CA137249419 rs775764694 |
179 | V>L | kidney [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA3768846 rs775764694 |
179 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA363746068 rs1456588725 |
183 | E>A | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 184 | N>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3768844 rs760486424 |
184 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs533808712 CA3768843 |
185 | I>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3768842 rs146246778 COSM1443986 |
186 | T>M | pancreas large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
rs368388208 CA3768841 |
187 | D>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1411395659 CA363746037 |
188 | P>S | No |
ClinGen gnomAD |
|
|
CA363746039 rs1411395659 |
188 | P>T | No |
ClinGen gnomAD |
|
|
CA363746033 rs1168665163 |
189 | V>I | No |
ClinGen gnomAD |
|
|
rs1232463911 CA363746021 |
190 | W>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA363746026 rs1465184197 |
190 | W>R | No |
ClinGen gnomAD |
|
|
CA3768840 rs778500766 |
191 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA363746007 rs1581804782 |
193 | R>K | No |
ClinGen Ensembl |
|
|
CA363745967 rs1287665637 |
197 | Q>* | No |
ClinGen gnomAD |
|
|
rs371137302 CA3768814 |
197 | Q>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs371137302 CA3768815 |
197 | Q>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3768813 rs757600603 |
200 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA3768811 rs778219246 |
201 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs200541069 CA3768812 |
201 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA363745932 rs1328093669 |
203 | K>T | No |
ClinGen gnomAD |
|
|
rs752771922 CA3768809 |
204 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA3768808 rs765409364 |
207 | V>L | No |
ClinGen ExAC TOPMed |
|
|
rs201092504 CA3768804 |
210 | T>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3768802 rs774471334 |
211 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA3768800 rs764104836 |
213 | S>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA3768799 rs762394336 |
215 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs1244438506 CA363745839 |
216 | P>R | No |
ClinGen gnomAD |
|
|
CA137248802 rs941436362 |
216 | P>S | No |
ClinGen TOPMed |
|
| TCGA novel | 217 | H>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs776259421 CA3768795 |
221 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA3768796 rs745588245 |
221 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA363745766 rs1445164091 |
224 | Q>* | No |
ClinGen TOPMed |
|
|
CA3768794 rs771322225 |
224 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs1349735266 CA363745765 |
224 | Q>P | No |
ClinGen gnomAD |
|
| TCGA novel | 224 | Q>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA363745747 rs1235260144 |
225 | Y>* | No |
ClinGen gnomAD |
|
|
rs202025517 CA137248784 |
226 | E>G | No |
ClinGen 1000Genomes |
|
|
CA363745726 rs1273142004 |
227 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA137248781 rs954988108 |
227 | R>W | No |
ClinGen gnomAD |
|
|
CA3768793 rs747350461 |
228 | A>T | No |
ClinGen ExAC TOPMed |
|
|
CA3768791 rs758862942 |
229 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA3768790 rs748180958 |
233 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 234 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA363745607 rs1377625100 |
237 | Q>* | No |
ClinGen gnomAD |
|
|
CA3768776 rs776312603 |
239 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770519277 CA3768775 |
240 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA363745522 rs1482132412 |
241 | L>F | No |
ClinGen gnomAD |
|
|
CA137248664 rs530781724 |
246 | K>R | No |
ClinGen gnomAD |
|
|
CA363745426 rs1217396081 |
249 | T>I | No |
ClinGen gnomAD |
|
|
CA3768770 rs2234045 VAR_039692 |
253 | G>A | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1581799183 CA363745382 |
254 | D>A | No |
ClinGen Ensembl |
|
| TCGA novel | 254 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3768769 rs755127178 |
255 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs749358203 CA3768768 |
257 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780448674 CA3768767 |
259 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3768766 rs756367121 |
260 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758120624 CA3768763 |
264 | D>A | No |
ClinGen ExAC gnomAD |
|
|
CA363745077 rs1163935151 |
264 | D>E | No |
ClinGen gnomAD |
|
|
rs777657692 CA3768764 |
264 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
CA3768762 rs752717040 |
265 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs1458376624 CA363745010 |
270 | S>G | No |
ClinGen gnomAD |
|
|
CA363745004 rs1237739096 |
270 | S>T | No |
ClinGen gnomAD |
|
|
rs753303993 CA3768759 |
272 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA137248597 rs571058019 |
272 | A>S | No |
ClinGen 1000Genomes gnomAD |
|
|
rs766023819 CA3768758 |
273 | G>R | No |
ClinGen ExAC |
|
|
rs766023819 CA363744977 |
273 | G>S | No |
ClinGen ExAC |
|
|
CA3768756 rs760263154 |
273 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs762054767 CA3768753 |
275 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs774973172 CA3768752 |
276 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs768998692 CA3768751 |
277 | N>H | No |
ClinGen ExAC gnomAD |
|
|
rs371115731 CA3768750 |
277 | N>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1283311776 CA363744906 |
279 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA3768749 rs780219572 |
281 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs1394543395 CA363744853 |
283 | P>A | No |
ClinGen gnomAD |
|
|
CA3768748 rs770158711 |
283 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3768747 rs376470025 |
285 | P>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs376470025 CA3768746 |
285 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs758259983 CA3768745 |
288 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs150437868 CA137248531 |
290 | M>I | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs62404564 CA3768744 |
290 | M>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs753359455 CA3768741 |
301 | L>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs753359455 CA3768742 |
301 | L>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 302 | W>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3768739 rs746615964 |
303 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA363744576 rs1209828003 |
303 | D>Y | No |
ClinGen gnomAD |
|
|
CA3768738 rs199758911 |
305 | E>* | No |
ClinGen 1000Genomes ExAC |
|
|
CA3768735 rs767056497 |
309 | F>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1347384665 CA363744496 |
310 | P>L | No |
ClinGen TOPMed |
|
|
rs1217845931 CA363744493 |
311 | E>K | No |
ClinGen gnomAD |
|
|
CA363744416 rs1265433800 |
314 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1282083854 CA363744401 |
315 | M>T | No |
ClinGen Ensembl |
|
|
rs754754585 CA3768723 |
316 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs140505237 CA137248441 |
317 | R>G | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA137248438 rs372979577 |
318 | T>N | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA3768721 rs779936728 |
319 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs199729611 CA3768722 |
319 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM1672330 rs1427129351 CA363744302 |
320 | L>P | large_intestine [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
rs190225207 CA3768718 |
322 | E>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs966772237 CA137248429 |
322 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA363744243 rs1581797591 |
323 | L>M | No |
ClinGen Ensembl |
|
|
rs751971112 CA3768716 |
326 | Q>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA137248422 rs375634528 |
328 | H>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA363744142 rs1375109535 |
329 | Q>* | No |
ClinGen TOPMed |
|
|
rs201387409 CA3768714 |
329 | Q>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765786893 COSM76696 CA137248399 |
332 | V>F | ovary Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs765786893 CA3768712 COSM241861 |
332 | V>I | Variant assessed as Somatic; 0.0 impact. prostate [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs868637949 CA137248393 |
333 | M>I | No |
ClinGen Ensembl |
|
|
CA3768711 rs759717986 |
333 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs776505647 CA137248392 |
335 | S>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3768710 rs776505647 |
335 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757186529 CA137248366 |
342 | S>C | No |
ClinGen Ensembl |
|
| TCGA novel | 343 | F>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs868506529 CA137248358 |
345 | G>D | No |
ClinGen Ensembl |
|
|
CA3768705 rs2234046 |
345 | G>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3768706 rs2234046 |
345 | G>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1581797311 CA363743861 |
346 | S>R | No |
ClinGen Ensembl |
|
|
CA3768702 rs372743324 |
352 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA137248353 rs372743324 |
352 | P>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA363743725 rs1164822565 |
354 | F>L | No |
ClinGen TOPMed |
|
| TCGA novel | 355 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1443317790 CA363743710 |
356 | D>N | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 356 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1404199363 CA363743669 |
358 | L>V | No |
ClinGen TOPMed |
|
|
CA363743647 rs1017696883 |
360 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1017696883 CA137248350 |
360 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
CA363743645 rs1198350542 |
360 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs545871773 CA3768701 |
361 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 362 | T>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA137248302 rs756781573 |
364 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756781573 CA3768700 |
364 | S>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA363743590 rs1315995243 |
365 | L>S | No |
ClinGen gnomAD |
|
|
rs1339627838 CA363743545 |
368 | D>E | No |
ClinGen gnomAD |
|
|
CA363743548 rs1245272171 |
368 | D>G | No |
ClinGen gnomAD |
|
| TCGA novel | 369 | F>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs763812558 CA3768698 |
371 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3768677 rs779470706 |
374 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs755339702 CA3768676 |
375 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3768675 rs754370826 |
376 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA3768674 rs766896459 |
377 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA363743372 rs1437319258 |
377 | I>V | No |
ClinGen gnomAD |
|
|
rs1450974523 CA363743347 |
380 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
rs750433913 CA3768672 |
382 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs750433913 CA363743319 |
382 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA363743286 rs1354092680 |
383 | Q>R | No |
ClinGen gnomAD |
|
|
rs761971960 CA3768669 |
385 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA363743197 rs984693096 |
389 | H>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1019823482 CA137247923 |
389 | H>N | No |
ClinGen Ensembl |
|
|
CA137247917 rs984693096 |
389 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1437213857 CA363743105 |
393 | K>Q | No |
ClinGen gnomAD |
|
|
CA3768667 rs769613866 |
394 | N>T | No |
ClinGen ExAC gnomAD |
|
|
rs1219952372 CA363743050 |
395 | M>V | No |
ClinGen TOPMed |
|
|
CA363743014 rs1421955552 |
396 | G>D | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs759366965 CA3768666 |
398 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA137247904 COSM108038 rs147061538 |
399 | A>V | skin [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs1157743433 CA363742939 |
400 | L>P | No |
ClinGen gnomAD |
|
|
CA363742932 rs1417463614 |
401 | S>G | No |
ClinGen gnomAD |
|
|
rs776451131 CA3768665 |
402 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA363742885 rs1426635275 |
403 | D>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA3768664 rs770838863 |
405 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs142229547 CA137247889 |
406 | A>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3768663 rs142229547 |
406 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3768662 rs777371930 |
406 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs562902814 CA3768661 |
407 | S>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1351800786 CA363742813 |
409 | M>T | No |
ClinGen gnomAD |
|
|
rs755355317 CA3768658 |
413 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs997157057 CA137247854 |
413 | Q>H | No |
ClinGen Ensembl |
|
|
CA137247834 rs932951552 |
415 | I>T | No |
ClinGen TOPMed |
|
|
CA363742616 rs1476974758 |
422 | V>I | No |
ClinGen TOPMed |
|
|
CA3768655 rs754172299 |
425 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs552806919 CA3768653 |
426 | I>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA137247482 rs571410395 |
427 | D>G | No |
ClinGen 1000Genomes gnomAD |
|
|
rs756602426 CA3768652 |
427 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA363741980 rs1369129582 |
428 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
CA3768634 rs115171214 |
428 | Q>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs2234051 VAR_039693 CA3768631 |
429 | R>Q | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA3768632 rs746410817 |
429 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757381332 CA3768630 |
431 | H>D | No |
ClinGen ExAC gnomAD |
|
|
rs1346306432 CA363741879 |
435 | K>N | No |
ClinGen TOPMed |
|
|
rs149685630 CA3768627 |
437 | C>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3768628 rs149685630 |
437 | C>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA363741815 rs1287526066 |
440 | L>P | No |
ClinGen TOPMed |
|
|
CA363741809 rs1353727033 |
441 | G>D | No |
ClinGen TOPMed |
|
| TCGA novel | 441 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA137247461 rs35507973 |
442 | V>E | No |
ClinGen Ensembl |
|
|
rs569547384 CA3768625 |
443 | Q>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs548056330 CA3768624 |
444 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs548056330 CA3768622 |
444 | R>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs548056330 CA3768623 |
444 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA137247454 rs1005525749 |
444 | R>W | No |
ClinGen TOPMed |
|
|
CA137247436 rs374559672 |
447 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs773869428 CA3768619 |
448 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768213865 CA137247432 |
451 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA3768618 rs768213865 |
451 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA363741673 rs1163810038 |
453 | L>F | No |
ClinGen gnomAD |
|
|
CA363741659 rs1421789485 |
454 | T>S | No |
ClinGen gnomAD |
|
|
rs774971447 CA3768616 |
455 | L>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 456 | I>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1193746804 CA363741645 |
456 | I>V | No |
ClinGen gnomAD |
|
|
rs770206514 CA3768615 |
458 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs929158828 CA137247395 |
461 | A>T | No |
ClinGen Ensembl |
|
|
CA363741564 rs1440444651 |
461 | A>V | No |
ClinGen gnomAD |
|
|
rs781669719 CA3768613 |
463 | L>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs967756304 CA137247390 |
464 | G>D | No |
ClinGen TOPMed |
|
|
rs1376851842 CA363741479 |
467 | F>C | No |
ClinGen TOPMed |
|
|
rs1425287327 CA363741473 |
468 | V>L | No |
ClinGen Ensembl |
|
|
rs1241232875 CA363741455 |
469 | N>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA363741399 rs1258484423 |
473 | H>R | No |
ClinGen TOPMed |
|
| TCGA novel | 475 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA363741342 rs1479988646 |
477 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
rs747117260 CA3768610 |
480 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1225352357 CA363741286 |
481 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
CA3768608 rs758379313 |
482 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA3768609 rs777960647 |
482 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA3768607 rs753031619 |
483 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs897648182 CA363741260 |
483 | T>N | No |
ClinGen gnomAD |
|
|
CA137247380 rs897648182 |
483 | T>S | No |
ClinGen gnomAD |
|
|
CA363741194 rs1241395500 |
488 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs765365117 CA3768606 |
488 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs755987530 CA3768605 |
489 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA3768604 rs750176539 |
493 | A>P | No |
ClinGen ExAC gnomAD |
|
|
rs750176539 CA363741146 |
493 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA3768603 rs767593115 |
495 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA363741124 rs767593115 |
495 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA3768600 rs763698528 |
502 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA3768598 rs765845352 |
503 | V>S | No |
ClinGen ExAC gnomAD |
No associated diseases with Q8WWU5
No regional properties for Q8WWU5
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| No domain, repeats, and functional sites for Q8WWU5 | |||
Functions
4 GO annotations of cellular component
| Name | Definition |
|---|---|
| acrosomal vesicle | A structure in the head of a spermatozoon that contains acid hydrolases, and is concerned with the breakdown of the outer membrane of the ovum during fertilization. It lies just beneath the plasma membrane and is derived from the lysosome. |
| 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. |
| sperm flagellum | A microtubule-based flagellum (or cilium) that is part of a sperm, a mature male germ cell that develops from a spermatid. |
| sperm midpiece | The highly organized segment of the sperm flagellum which begins at the connecting piece and is characterized by the presence of 9 outer dense fibers (ODFs) that lie outside each of the 9 outer axonemal microtubule doublets and by a sheath of mitochondria that encloses the ODFs and the axoneme; the midpiece terminates about one-fourth of the way down the sperm flagellum at the annulus, which marks the beginning of the principal piece. |
No GO annotations of molecular function
| Name | Definition |
|---|---|
| No GO annotations for molecular function |
6 GO annotations of biological process
| Name | Definition |
|---|---|
| adenylate cyclase-activating G protein-coupled receptor signaling pathway | A G protein-coupled receptor signaling pathway in which the signal is transmitted via the activation of adenylyl cyclase activity and a subsequent increase in the intracellular concentration of cyclic AMP (cAMP). |
| germ cell development | The process whose specific outcome is the progression of an immature germ cell over time, from its formation to the mature structure (gamete). A germ cell is any reproductive cell in a multicellular organism. |
| protein kinase A signaling | A series of reactions, mediated by the intracellular serine/threonine kinase protein kinase A, which occurs as a result of a single trigger reaction or compound. |
| regulation of sperm capacitation | Any process that modulates the frequency, rate or extent of sperm capacitation. |
| signal transduction | The cellular process in which a signal is conveyed to trigger a change in the activity or state of a cell. Signal transduction begins with reception of a signal (e.g. a ligand binding to a receptor or receptor activation by a stimulus such as light), or for signal transduction in the absence of ligand, signal-withdrawal or the activity of a constitutively active receptor. Signal transduction ends with regulation of a downstream cellular process, e.g. regulation of transcription or regulation of a metabolic process. Signal transduction covers signaling from receptors located on the surface of the cell and signaling via molecules located within the cell. For signaling between cells, signal transduction is restricted to events at and within the receiving cell. |
| spermatogenesis | The developmental process by which male germ line stem cells self renew or give rise to successive cell types resulting in the development of a spermatozoa. |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MPDVKESVPP | KYPGDSEGRS | CKPETSGPPQ | EDKSGSEDPP | PFLSVTGLTE | TVNEVSKLSN |
| 70 | 80 | 90 | 100 | 110 | 120 |
| KIGMNCDYYM | EEKVLPPSSL | EGKVKETVHN | AFWDHLKEQL | SATPPDFSCA | LELLKEIKEI |
| 130 | 140 | 150 | 160 | 170 | 180 |
| LLSLLLPRQN | RLRIEIEEAL | DMDLLKQEAE | HGALKVLYLS | KYVLNMMALL | CAPVRDEAVQ |
| 190 | 200 | 210 | 220 | 230 | 240 |
| KLENITDPVW | LLRGIFQVLG | RMKMDMVNYT | IQSLQPHLQE | HSIQYERAKF | QELLNKQPSL |
| 250 | 260 | 270 | 280 | 290 | 300 |
| LNHTTKWLTQ | AAGDLTMSPP | TCPDTSDSSS | VAGPSPNEAA | NNPEPLSPTM | VLCQGFLNLL |
| 310 | 320 | 330 | 340 | 350 | 360 |
| LWDLENEEFP | ETLLMDRTRL | QELKSQLHQL | TVMASVLLVA | SSFSGSVLFG | SPQFVDKLKR |
| 370 | 380 | 390 | 400 | 410 | 420 |
| ITKSLLEDFH | SRPEEAILTV | SEQVSQEIHQ | SLKNMGLVAL | SSDNTASLMG | QLQNIAKKEN |
| 430 | 440 | 450 | 460 | 470 | 480 |
| CVCSVIDQRI | HLFLKCCLVL | GVQRSLLDLP | GGLTLIEAEL | AELGQKFVNL | THHNQQVFGP |
| 490 | 500 | ||||
| YYTEILKTLI | SPAQALETKV | ESV |