P0C1Z6
Gene name |
TFPT (INO80F) |
Protein name |
TCF3 fusion partner |
Names |
INO80 complex subunit F, Protein FB1 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:29844 |
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 P0C1Z6
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-P0C1Z6-F1 | Predicted | AlphaFoldDB |
236 variants for P0C1Z6
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA407788171 rs1193141793 |
5 | Q>H | No |
ClinGen TOPMed |
|
|
CA407788174 rs1180763350 |
5 | Q>R | No |
TOPMed gnomAD ClinGen |
|
|
rs1458028512 CA407788157 |
7 | E>Q | No |
ClinGen gnomAD |
|
|
CA407788140 rs1239984117 |
8 | G>E | No |
gnomAD ClinGen |
|
|
rs777367685 CA309317822 |
9 | T>S | No |
ExAC gnomAD ClinGen |
|
|
rs1192822450 CA407788039 |
10 | M>I | No |
gnomAD ClinGen |
|
|
rs1474507713 CA407788037 |
11 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
gnomAD ClinGen NCI-TCGA |
|
CA407788027 rs1241584778 |
12 | A>P | No |
gnomAD ClinGen |
|
|
CA309317808 rs754380542 |
13 | V>A | No |
ExAC gnomAD ClinGen |
|
|
CA407787987 rs1313116720 |
15 | F>S | No |
gnomAD ClinGen |
|
|
rs750853355 CA309317796 |
17 | E>D | No |
ExAC gnomAD ClinGen |
|
|
CA309317793 rs376999253 |
18 | F>L | No |
ESP ExAC gnomAD ClinGen |
|
|
rs1336894892 CA407787919 |
19 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
gnomAD ClinGen NCI-TCGA |
|
CA407787879 rs1381300743 |
21 | P>L | No |
TOPMed ClinGen |
|
|
CA309317770 rs587617418 |
24 | S>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA309317769 rs762884888 |
25 | E>D | No |
ExAC gnomAD ClinGen |
|
|
rs1157014752 CA407787752 |
27 | A>T | No |
TOPMed ClinGen |
|
|
CA309317754 rs781018410 |
28 | L>M | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs1454715686 CA407787589 |
34 | G>D | No |
gnomAD ClinGen |
|
|
rs747676603 CA309317657 |
41 | L>P | No |
ExAC gnomAD ClinGen |
|
|
CA407787331 rs1368887473 |
44 | E>G | No |
TOPMed ClinGen |
|
| TCGA novel | 44 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 45 | V>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1255721224 CA407787240 |
49 | S>T | No |
ClinGen gnomAD |
|
|
rs960809894 CA309317627 |
51 | G>S | No |
TOPMed ClinGen |
|
|
CA407787145 rs1309970433 |
52 | L>R | No |
TOPMed ClinGen |
|
|
CA309317612 rs373003232 |
54 | G>S | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA407787073 rs1437718116 |
55 | S>* | No |
gnomAD ClinGen |
|
|
CA309317604 rs928059728 |
56 | G>E | No |
Ensembl ClinGen |
|
|
CA407787041 rs1256897300 |
57 | L>I | No |
gnomAD ClinGen |
|
|
CA407787036 rs1185242712 |
57 | L>P | No |
gnomAD ClinGen |
|
|
CA407787026 rs1310254845 |
58 | R>G | No |
TOPMed gnomAD ClinGen |
|
|
CA309317585 rs757494817 |
58 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA407786959 rs1227376487 |
60 | R>P | No |
gnomAD ClinGen |
|
|
CA407786929 rs201672137 |
61 | D>E | No |
1000Genomes ExAC TOPMed gnomAD ClinGen |
|
|
rs139955385 CA309317568 |
63 | E>D | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA407786885 rs1394523441 |
63 | E>K | No |
TOPMed ClinGen |
|
| TCGA novel | 64 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1399519424 CA407786846 |
64 | E>D | No |
gnomAD ClinGen |
|
|
rs763233664 CA309317552 |
64 | E>Q | No |
ExAC TOPMed gnomAD ClinGen |
|
| TCGA novel | 65 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA309317526 rs770740513 |
68 | R>Q | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs1467307059 CA407786758 |
68 | R>W | No |
gnomAD ClinGen |
|
|
CA309317519 rs759494963 |
69 | G>S | No |
ExAC gnomAD ClinGen |
|
|
rs146000517 CA309317509 |
69 | G>V | No |
ESP TOPMed ClinGen |
|
|
CA407786706 COSM1326190 rs1162947527 |
70 | R>Q | ovary Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
TOPMed ClinGen cosmic curated NCI-TCGA |
|
rs1209744902 CA407786707 |
70 | R>W | No |
TOPMed gnomAD ClinGen |
|
|
CA309317493 rs776513954 |
71 | R>P | No |
ExAC gnomAD ClinGen |
|
|
rs776513954 CA309317497 |
71 | R>Q | No |
ExAC gnomAD ClinGen |
|
|
rs746834418 CA309317470 |
74 | Q>R | No |
ExAC ClinGen |
|
|
CA407786580 rs1568574351 |
75 | R>P | No |
Ensembl ClinGen |
|
|
CA407786526 rs1302736933 |
77 | L>S | No |
ClinGen gnomAD |
|
|
rs587648855 CA309317469 |
78 | N>H | No |
1000Genomes ExAC gnomAD ClinGen |
|
|
rs1568574320 CA407786495 |
78 | N>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
Ensembl ClinGen NCI-TCGA |
|
CA309317468 rs771658243 |
79 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA309317466 rs747776427 |
79 | R>L | No |
ExAC TOPMed ClinGen |
|
| TCGA novel | 82 | Y>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1399388261 TCGA novel CA407786333 |
84 | A>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed ClinGen |
|
rs1389639177 CA407786281 |
87 | R>Q | No |
TOPMed ClinGen |
|
|
CA407786290 rs1212332415 |
87 | R>W | No |
gnomAD ClinGen |
|
|
CA309317449 rs754496341 |
88 | R>G | No |
ExAC gnomAD ClinGen |
|
|
rs781740615 CA309317431 |
90 | R>L | No |
ExAC gnomAD ClinGen |
|
|
rs781740615 CA407786217 |
90 | R>Q | No |
ExAC gnomAD ClinGen |
|
|
rs142515991 CA309317443 |
90 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ESP ExAC TOPMed gnomAD ClinGen NCI-TCGA |
|
rs587751545 CA309317425 |
91 | E>K | No |
1000Genomes ExAC gnomAD ClinGen |
|
|
rs752870810 CA309317419 |
92 | I>M | No |
ExAC gnomAD ClinGen |
|
|
rs758601188 CA309317423 |
92 | I>T | No |
ExAC TOPMed ClinGen |
|
|
CA407786149 rs1568574190 |
93 | E>* | No |
Ensembl ClinGen |
|
|
CA407786130 rs1291130439 |
94 | Q>* | No |
TOPMed ClinGen |
|
|
CA309313720 rs372825631 |
95 | V>M | No |
ESP ExAC gnomAD ClinGen |
|
|
CA407784498 COSM713810 rs1051140983 CA309313710 |
96 | N>K | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
TOPMed gnomAD ClinGen cosmic curated NCI-TCGA |
|
rs761642321 CA309313700 |
97 | E>G | No |
ExAC gnomAD ClinGen |
|
|
CA407784495 rs767220147 |
97 | E>K | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs767220147 CA407784493 |
97 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774272913 CA309313697 |
98 | R>Q | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs1600297864 CA407784465 |
99 | V>G | No |
Ensembl ClinGen |
|
|
rs1263660453 CA407784446 |
101 | N>S | No |
TOPMed gnomAD ClinGen |
|
|
CA309313671 rs774912384 |
102 | R>G | No |
ExAC gnomAD ClinGen |
|
|
CA407784435 rs1244070857 |
102 | R>K | No |
TOPMed ClinGen |
|
|
CA309313664 rs369765889 |
102 | R>S | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs1233867142 CA407784421 |
103 | L>H | No |
gnomAD ClinGen |
|
|
CA407784407 rs1293444922 |
104 | H>R | No |
gnomAD ClinGen |
|
|
rs940733213 CA309313649 |
105 | Q>H | No |
Ensembl ClinGen |
|
|
CA309313641 rs772441947 |
106 | V>L | No |
ExAC gnomAD ClinGen |
|
|
CA309313635 rs772441947 |
106 | V>M | No |
ExAC gnomAD ClinGen |
|
| TCGA novel | 108 | R>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs200361982 CA407784331 |
111 | R>G | No |
1000Genomes ExAC TOPMed gnomAD ClinGen |
|
|
CA309313608 rs375419473 |
111 | R>Q | No |
ESP TOPMed ClinGen |
|
|
rs200361982 CA309313611 |
111 | R>W | No |
1000Genomes ExAC TOPMed gnomAD ClinGen |
|
|
CA407784320 rs1273545952 |
112 | R>K | No |
gnomAD ClinGen |
|
|
CA407784313 rs1600297644 |
112 | R>S | No |
Ensembl ClinGen |
|
|
CA407784289 rs1220428572 |
114 | Q>H | No |
TOPMed gnomAD ClinGen |
|
|
CA309313602 rs138024173 |
115 | Q>H | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs150437143 CA309313591 |
116 | E>Q | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs750339337 CA407784251 |
117 | R>G | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs761840525 CA309313539 |
117 | R>L | No |
ExAC gnomAD ClinGen |
|
|
rs761840525 CA309313550 |
117 | R>Q | No |
ExAC gnomAD ClinGen |
|
|
CA309313570 rs750339337 |
117 | R>W | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs751442251 CA309313510 |
118 | R>T | No |
ExAC gnomAD ClinGen |
|
| TCGA novel | 120 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA309311793 rs753500915 |
121 | M>K | No |
ExAC gnomAD ClinGen |
|
|
rs753500915 CA309311791 |
121 | M>T | No |
ExAC gnomAD ClinGen |
|
|
CA407782540 rs751160649 CA407782543 |
123 | V>L | No |
ExAC gnomAD ClinGen |
|
|
rs751160649 CA407782545 |
123 | V>M | No |
ExAC gnomAD ClinGen |
|
| TCGA novel | 126 | S>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs970875427 CA309311772 |
127 | Y>C | No |
gnomAD ClinGen |
|
|
CA309311779 rs755756976 |
127 | Y>H | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA407782445 rs1360427920 |
128 | G>R | No |
Ensembl ClinGen |
|
|
rs1374391939 CA407782427 |
129 | D>N | No |
gnomAD ClinGen |
|
|
CA309311750 rs141461777 |
131 | Y>C | No |
ESP ExAC gnomAD ClinGen |
|
|
CA309311747 rs753104719 |
132 | R>Q | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA309311748 rs148303725 |
132 | R>W | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs1443447059 CA407782311 |
136 | F>L | No |
gnomAD ClinGen |
|
|
rs1281320796 CA407782279 |
138 | I>F | No |
gnomAD ClinGen |
|
|
CA309311713 rs777126350 |
138 | I>M | No |
ExAC gnomAD ClinGen |
|
|
CA309311715 rs759925165 |
138 | I>T | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA407782245 rs1277243567 |
140 | L>P | No |
gnomAD ClinGen |
|
|
rs1277243567 CA407782242 |
140 | L>R | No |
gnomAD ClinGen |
|
|
CA407782125 rs1387396149 |
142 | D>H | No |
gnomAD ClinGen |
|
|
CA309311571 rs761006755 |
142 | D>V | No |
ClinGen ExAC |
|
|
CA309311566 rs773236546 |
143 | E>* | No |
ExAC ClinGen |
|
|
rs767644731 CA309311561 |
143 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs1272376789 CA407782075 |
144 | G>D | No |
ClinGen TOPMed |
|
|
rs761856411 CA309311557 |
144 | G>S | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA407782068 rs1237063641 |
145 | S>R | No |
TOPMed gnomAD ClinGen |
|
|
rs1055973936 CA309311549 |
146 | Q>E | No |
Ensembl ClinGen |
|
|
rs1448407063 CA407782037 |
146 | Q>R | No |
TOPMed ClinGen |
|
|
CA407782026 rs1481313637 |
147 | G>A | No |
gnomAD ClinGen |
|
|
CA407782028 rs1481313637 |
147 | G>D | No |
ClinGen gnomAD |
|
|
CA407782031 rs1286254299 |
147 | G>S | No |
TOPMed gnomAD ClinGen |
|
|
CA309311544 rs375487904 |
148 | T>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA407781998 rs1322123023 |
150 | A>P | No |
TOPMed gnomAD ClinGen |
|
|
rs1322123023 CA407782000 |
150 | A>T | No |
TOPMed gnomAD ClinGen |
|
|
rs1182793122 CA407781988 |
151 | P>S | No |
TOPMed ClinGen |
|
|
CA407781979 rs1311809936 |
152 | T>A | No |
TOPMed gnomAD ClinGen |
|
|
rs769539637 CA309311496 |
152 | T>I | No |
ExAC gnomAD ClinGen |
|
|
CA407781977 rs1311809936 |
152 | T>S | No |
TOPMed gnomAD ClinGen |
|
|
CA309311485 rs761143770 |
153 | P>S | No |
Ensembl ClinGen |
|
|
rs780651901 CA309311478 |
154 | G>D | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA407781932 rs1365575190 |
155 | N>D | No |
gnomAD ClinGen |
|
|
CA407781907 rs1232104130 |
155 | N>S | No |
gnomAD ClinGen |
|
|
rs201891249 CA407781888 |
156 | A>E | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs201891249 CA309311472 |
156 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen NCI-TCGA |
|
CA407781881 rs200459700 |
157 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA407781879 rs200459700 |
157 | E>Q | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs1381524737 CA407781853 |
158 | N>I | No |
gnomAD ClinGen |
|
|
CA407781858 rs1419446436 |
158 | N>Y | No |
gnomAD ClinGen |
|
|
CA407781824 rs1420421950 |
160 | P>H | No |
gnomAD ClinGen |
|
|
rs1288625916 CA407781776 |
163 | K>E | No |
TOPMed gnomAD ClinGen |
|
|
rs766850986 CA309311445 |
163 | K>R | No |
ExAC gnomAD ClinGen |
|
|
CA407781744 rs1220264646 |
164 | E>D | No |
TOPMed ClinGen |
|
|
rs756487327 CA309311430 |
165 | T>A | No |
ExAC gnomAD ClinGen |
|
|
CA309311401 rs767698135 |
166 | L>P | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA309311392 rs762062470 |
167 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774342975 CA309311386 |
168 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ExAC TOPMed gnomAD ClinGen NCI-TCGA |
|
CA407781672 rs762910213 |
169 | P>A | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs762910213 CA309311362 |
169 | P>S | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs769591725 CA309311340 |
170 | R>K | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs1361561872 CA407781595 |
173 | P>L | No |
gnomAD ClinGen |
|
|
rs1291143443 CA407781588 |
174 | A>T | No |
gnomAD ClinGen |
|
|
rs1375463024 CA407781567 |
175 | P>L | No |
gnomAD ClinGen |
|
|
rs142642138 CA309311315 |
175 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ESP ExAC TOPMed gnomAD ClinGen NCI-TCGA |
|
CA407781556 rs1480466945 |
176 | P>Q | No |
TOPMed gnomAD ClinGen |
|
|
rs1480466945 CA407781553 |
176 | P>R | No |
TOPMed gnomAD ClinGen |
|
|
CA309311313 rs770531913 |
176 | P>T | No |
ExAC gnomAD ClinGen |
|
|
CA407781504 rs1191059293 |
179 | G>S | No |
TOPMed gnomAD ClinGen |
|
|
rs749824870 CA309311295 |
182 | A>D | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs749824870 CA407781422 |
182 | A>G | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs749824870 CA309311294 |
182 | A>V | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA407781401 rs1259651286 |
183 | P>H | No |
gnomAD ClinGen |
|
|
rs1434803502 CA407781406 |
183 | P>S | No |
gnomAD ClinGen |
|
|
rs370305737 CA309311286 |
184 | G>D | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA309311290 rs200020589 |
184 | G>S | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs1568564339 CA407781296 |
187 | P>S | No |
Ensembl ClinGen |
|
|
CA309311270 rs762965314 |
189 | G>V | No |
ExAC gnomAD ClinGen |
|
|
CA309311259 rs371509951 |
190 | R>Q | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA309311260 COSM1229061 rs765229548 |
190 | R>W | large_intestine [Cosmic] | No |
ExAC TOPMed gnomAD ClinGen cosmic curated |
|
rs770714341 CA407781174 |
192 | R>K | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs770714341 CA407781170 |
192 | R>M | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs368833895 CA407781162 |
193 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs147735140 CA309311247 |
193 | R>Q | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA309311256 rs368833895 |
193 | R>W | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA309311211 rs747723515 |
194 | R>* | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA309311205 rs587666544 |
194 | R>Q | No |
1000Genomes ExAC TOPMed gnomAD ClinGen |
|
|
CA407781148 rs1195110017 |
195 | V>M | No |
ClinGen gnomAD |
|
|
CA309311177 rs200497052 |
197 | R>Q | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs372980800 CA309311181 |
197 | R>W | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA309311172 rs781439874 |
199 | G>R | No |
ExAC gnomAD ClinGen |
|
|
CA309311166 rs140973668 |
200 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs751744667 CA309311160 |
200 | R>H | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs751744667 CA407781051 |
200 | R>L | No |
ExAC TOPMed gnomAD ClinGen |
|
| TCGA novel | 200 | R>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA309311155 rs778029287 |
201 | R>* | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs587639297 CA407781018 |
201 | R>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs587639297 CA407781024 |
201 | R>Q | No |
1000Genomes ExAC TOPMed gnomAD ClinGen |
|
|
rs1300696950 CA407780922 |
204 | N>K | No |
TOPMed ClinGen |
|
|
CA407780908 rs545448952 |
205 | A>G | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
1000Genomes ExAC TOPMed gnomAD ClinGen NCI-TCGA |
|
CA309311132 rs545448952 |
205 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
1000Genomes ExAC TOPMed gnomAD ClinGen NCI-TCGA |
|
CA309311119 rs753773339 |
206 | L>P | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs760574312 CA407780857 |
207 | T>I | No |
ExAC gnomAD ClinGen |
|
|
rs760574312 CA309311104 |
207 | T>N | No |
ExAC gnomAD ClinGen |
|
|
rs766098166 CA309311116 |
207 | T>P | No |
ExAC gnomAD ClinGen |
|
|
CA407780776 rs1169269396 |
211 | A>T | No |
gnomAD ClinGen |
|
|
CA407780737 rs1295398705 |
212 | P>A | No |
TOPMed gnomAD ClinGen |
|
|
CA309311093 rs201832670 |
212 | P>L | No |
1000Genomes ExAC TOPMed gnomAD ClinGen |
|
|
rs774020839 CA309311087 |
213 | V>E | No |
ClinGen ExAC gnomAD |
|
|
CA407779128 rs1397198376 |
215 | I>M | No |
TOPMed gnomAD ClinGen |
|
|
rs897235839 CA309310537 |
215 | I>T | No |
gnomAD ClinGen |
|
|
CA309310532 rs755146722 |
217 | V>A | No |
ExAC gnomAD ClinGen |
|
|
CA309310533 rs761247321 |
217 | V>I | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs1358318073 CA407779091 |
218 | E>K | No |
gnomAD ClinGen |
|
|
CA407779081 rs1167210836 |
219 | E>K | No |
gnomAD ClinGen |
|
|
CA309310507 rs149913762 |
220 | D>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs139073279 CA309310501 |
223 | F>S | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs756140239 CA309310496 |
224 | E>* | No |
ExAC gnomAD ClinGen |
|
|
CA309310486 rs750346120 |
225 | A>G | No |
ExAC gnomAD ClinGen |
|
|
rs767423431 CA309310473 |
228 | A>V | No |
ExAC gnomAD ClinGen |
|
|
CA407778779 rs587748485 |
236 | R>P | No |
1000Genomes ExAC TOPMed gnomAD ClinGen |
|
|
rs587748485 CA309310436 |
236 | R>Q | No |
1000Genomes ExAC TOPMed gnomAD ClinGen |
|
|
rs763875464 CA309310442 |
236 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ExAC TOPMed gnomAD ClinGen NCI-TCGA |
|
CA407778772 rs1283536632 |
237 | G>S | No |
gnomAD ClinGen |
|
|
CA407778749 rs1224909501 |
238 | P>R | No |
gnomAD ClinGen |
|
|
CA309310411 rs764606714 |
244 | Y>* | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs369757230 CA309310402 |
245 | P>L | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs369757230 CA309310406 |
245 | P>Q | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA407778634 rs369757230 |
245 | P>R | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA407778639 rs1431156512 |
245 | P>S | No |
gnomAD ClinGen |
|
|
CA407778621 rs1468951447 |
246 | T>I | No |
TOPMed ClinGen |
|
|
CA407778628 rs1469414268 |
246 | T>P | No |
gnomAD ClinGen |
|
|
rs576494595 CA309310390 |
248 | A>T | No |
Ensembl ClinGen |
|
|
rs34939501 CA309310366 |
251 | A>G | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs151148202 CA309310372 |
251 | A>S | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA309310349 rs780212681 |
253 | D>A | No |
ExAC gnomAD ClinGen |
|
|
CA309310344 rs769926922 |
253 | D>E | No |
ExAC gnomAD ClinGen |
|
|
rs749420696 CA309310354 |
253 | D>H | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs749420696 CA407778513 |
253 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ExAC TOPMed gnomAD ClinGen NCI-TCGA |
No associated diseases with P0C1Z6
1 regional properties for P0C1Z6
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Tubulin epsilon and delta complex protein 1 domain | 86 - 256 | IPR027996 |
5 GO annotations of cellular component
| Name | Definition |
|---|---|
| actin filament | A filamentous structure formed of a two-stranded helical polymer of the protein actin and associated proteins. Actin filaments are a major component of the contractile apparatus of skeletal muscle and the microfilaments of the cytoskeleton of eukaryotic cells. The filaments, comprising polymerized globular actin molecules, appear as flexible structures with a diameter of 5-9 nm. They are organized into a variety of linear bundles, two-dimensional networks, and three dimensional gels. In the cytoskeleton they are most highly concentrated in the cortex of the cell just beneath the plasma membrane. |
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| Ino80 complex | A multisubunit protein complex that contains the Ino80p ATPase; exhibits chromatin remodeling activity. |
| nucleoplasm | That part of the nuclear content other than the chromosomes or the nucleolus. |
| nucleus | A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent. |
3 GO annotations of molecular function
| Name | Definition |
|---|---|
| DNA binding | Any molecular function by which a gene product interacts selectively and non-covalently with DNA (deoxyribonucleic acid). |
| protein kinase binding | Binding to a protein kinase, any enzyme that catalyzes the transfer of a phosphate group, usually from ATP, to a protein substrate. |
| protein-containing complex binding | Binding to a macromolecular complex. |
15 GO annotations of biological process
| Name | Definition |
|---|---|
| apoptotic signaling pathway | The series of molecular signals which triggers the apoptotic death of a cell. The pathway starts with reception of a signal, and ends when the execution phase of apoptosis is triggered. |
| chromatin remodeling | A dynamic process of chromatin reorganization resulting in changes to chromatin structure. These changes allow DNA metabolic processes such as transcriptional regulation, DNA recombination, DNA repair, and DNA replication. |
| DNA recombination | Any process in which a new genotype is formed by reassortment of genes resulting in gene combinations different from those that were present in the parents. In eukaryotes genetic recombination can occur by chromosome assortment, intrachromosomal recombination, or nonreciprocal interchromosomal recombination. Interchromosomal recombination occurs by crossing over. In bacteria it may occur by genetic transformation, conjugation, transduction, or F-duction. |
| DNA repair | The process of restoring DNA after damage. Genomes are subject to damage by chemical and physical agents in the environment (e.g. UV and ionizing radiations, chemical mutagens, fungal and bacterial toxins, etc.) and by free radicals or alkylating agents endogenously generated in metabolism. DNA is also damaged because of errors during its replication. A variety of different DNA repair pathways have been reported that include direct reversal, base excision repair, nucleotide excision repair, photoreactivation, bypass, double-strand break repair pathway, and mismatch repair pathway. |
| male gonad development | The process whose specific outcome is the progression of the male gonad over time, from its formation to the mature structure. |
| positive regulation of apoptotic process | Any process that activates or increases the frequency, rate or extent of cell death by apoptotic process. |
| positive regulation of DNA repair | Any process that activates or increases the frequency, rate or extent of DNA repair. |
| positive regulation of DNA-templated transcription | Any process that activates or increases the frequency, rate or extent of cellular DNA-templated transcription. |
| positive regulation of telomere maintenance in response to DNA damage | Any process that activates or increases the frequency, rate or extent of telomere maintenance in response to DNA damage. |
| regulation of cell cycle | Any process that modulates the rate or extent of progression through the cell cycle. |
| regulation of chromosome organization | Any process that modulates the frequency, rate or extent of a process involved in the formation, arrangement of constituent parts, or disassembly of a chromosome. |
| regulation of DNA replication | Any process that modulates the frequency, rate or extent of DNA replication. |
| regulation of DNA strand elongation | Any process that modulates the rate, frequency or extent of DNA strand elongation. DNA strand elongation is the DNA metabolic process in which an existing DNA strand is extended by activities including the addition of nucleotides to the 3' end of the strand. |
| regulation of embryonic development | Any process that modulates the frequency, rate or extent of embryonic development. |
| telomere maintenance | Any process that contributes to the maintenance of proper telomeric length and structure by affecting and monitoring the activity of telomeric proteins, the length of telomeric DNA and the replication and repair of the DNA. These processes includes those that shorten, lengthen, replicate and repair the telomeric DNA sequences. |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MELEQREGTM | AAVGFEEFSA | PPGSELALPP | LFGGHILESE | LETEVEFVSG | GLGGSGLRER |
| 70 | 80 | 90 | 100 | 110 | 120 |
| DEEEEAARGR | RRRQRELNRR | KYQALGRRCR | EIEQVNERVL | NRLHQVQRIT | RRLQQERRFL |
| 130 | 140 | 150 | 160 | 170 | 180 |
| MRVLDSYGDD | YRASQFTIVL | EDEGSQGTDA | PTPGNAENEP | PEKETLSPPR | RTPAPPEPGS |
| 190 | 200 | 210 | 220 | 230 | 240 |
| PAPGEGPSGR | KRRRVPRDGR | RAGNALTPEL | APVQIKVEED | FGFEADEALD | SSWVSRGPDK |
| 250 | |||||
| LLPYPTLASP | ASD |