Q5H9I0
Gene name |
TFDP3 (DP4, HCA661) |
Protein name |
Transcription factor Dp family member 3 |
Names |
Cancer/testis antigen 30, CT30, Hepatocellular carcinoma-associated antigen 661 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:51270 |
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 Q5H9I0
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q5H9I0-F1 | Predicted | AlphaFoldDB |
279 variants for Q5H9I0
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA10520269 rs747668464 |
2 | A>E | No |
ClinGen ExAC gnomAD |
|
|
CA414702001 rs747668464 |
2 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs187566474 CA10520268 |
4 | Y>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA414701935 rs1250096149 |
6 | S>C | No |
ClinGen gnomAD |
|
|
CA335942584 rs200002834 |
6 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
CA414701890 rs1483936475 |
9 | E>G | No |
ClinGen gnomAD |
|
|
rs753663130 CA10520266 |
10 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1211301075 CA414701843 |
11 | N>T | No |
ClinGen gnomAD |
|
|
rs1188517610 CA414701793 |
13 | E>* | No |
ClinGen TOPMed |
|
|
CA414701650 rs1421487730 |
18 | M>T | No |
ClinGen TOPMed |
|
|
rs28455963 CA10520262 |
20 | E>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1603031264 CA414701540 |
23 | T>I | No |
ClinGen Ensembl |
|
|
CA414701556 rs1305891879 |
23 | T>P | No |
ClinGen gnomAD |
|
|
CA10520261 rs752829662 |
25 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10520260 rs752829662 |
25 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1459645116 CA414701473 |
27 | V>M | No |
ClinGen TOPMed |
|
| TCGA novel | 27 | V>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM1155269 rs777030815 CA10520257 |
29 | V>I | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs866188727 CA335942583 |
31 | T>I | No |
ClinGen Ensembl |
|
|
rs771151026 CA10520256 |
32 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs772720656 CA10520253 |
34 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773790494 CA10520254 |
34 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA10520255 rs773790494 COSM1145563 |
34 | V>M | lung large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs774072067 CA10520251 |
36 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10520252 rs774072067 |
36 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA335942580 rs1029271555 |
37 | L>F | No |
ClinGen TOPMed |
|
|
CA335942579 rs748945772 CA10520249 |
38 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs779782280 CA10520248 |
40 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1259689634 CA414701226 |
40 | Q>P | No |
ClinGen gnomAD |
|
|
rs1218653884 CA414701207 |
41 | L>H | No |
ClinGen gnomAD |
|
|
CA10520245 rs781090348 |
43 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10520246 rs745673311 |
43 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs367795076 CA10520244 |
44 | K>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1340204533 CA414701120 |
46 | F>S | No |
ClinGen gnomAD |
|
|
CA414701014 rs1233070888 |
50 | S>R | No |
ClinGen gnomAD |
|
|
CA335942578 rs936104850 |
52 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
CA414700917 rs1280680740 |
55 | Q>* | No |
ClinGen gnomAD |
|
|
rs926054162 CA335942577 |
55 | Q>L | No |
ClinGen TOPMed |
|
|
CA10520242 rs752737964 |
57 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA335942576 rs979696816 |
59 | I>T | No |
ClinGen TOPMed |
|
|
rs371634842 CA10520241 |
61 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10520239 rs753965765 |
63 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA335942575 rs868551185 |
66 | A>E | No |
ClinGen Ensembl |
|
|
rs766626788 CA335942574 |
67 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs766626788 CA10520238 |
67 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA414700665 rs1474776490 |
67 | A>V | No |
ClinGen gnomAD |
|
|
CA414700647 rs1313668986 |
69 | N>D | No |
ClinGen gnomAD |
|
|
rs1569329130 CA414700606 |
71 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA10520235 rs200465931 |
73 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs773893894 CA10520234 |
76 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs773893894 CA10520233 |
76 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA335942572 rs368319334 |
77 | N>H | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1273428174 CA414700528 |
77 | N>K | No |
ClinGen gnomAD |
|
|
CA414700543 rs368319334 |
77 | N>Y | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA10520232 rs201974352 |
79 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs748864765 CA10520231 |
80 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs867026564 CA335942571 |
83 | F>S | No |
ClinGen TOPMed gnomAD |
|
|
CA414700424 rs1402302586 |
84 | A>V | No |
ClinGen TOPMed |
|
|
rs906109582 CA335942570 |
85 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
rs774940932 CA10520230 |
86 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA414700377 rs1371770692 |
88 | Q>* | No |
ClinGen gnomAD |
|
| TCGA novel | 91 | Y>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM1664539 CA414700310 rs1402694634 |
92 | S>F | kidney [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs745533547 CA10520222 |
94 | P>L | No |
ClinGen 1000Genomes ExAC |
|
|
rs769633313 CA10520223 |
94 | P>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs780665772 CA10520221 |
95 | P>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA335942569 rs950249154 |
95 | P>S | No |
ClinGen gnomAD |
|
|
rs753967248 CA10520220 |
96 | W>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1252224454 CA414700162 CA414700160 |
100 | H>Q | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 102 | R>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10520218 rs756471402 |
104 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA10520217 rs200184256 |
105 | E>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA414700043 rs1164977468 |
106 | K>E | No |
ClinGen gnomAD |
|
|
CA10520216 rs768047382 |
106 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA414699995 rs1253380221 |
108 | G>S | No |
ClinGen gnomAD |
|
|
CA10520215 rs374029681 |
109 | M>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs762980759 CA335942567 |
110 | G>S | No |
ClinGen Ensembl |
|
|
CA414699912 rs1302825657 |
113 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
CA10520213 rs764669689 |
113 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA335942565 rs764669689 |
113 | R>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 113 | R>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs762353487 CA10520212 |
114 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs1329723930 CA414699890 |
114 | L>P | No |
ClinGen gnomAD |
|
|
CA10520211 rs751008224 |
115 | S>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs759231182 CA10520209 |
119 | W>R | No |
ClinGen ExAC gnomAD |
|
|
CA414699733 COSM3973261 rs1239930035 |
121 | T>M | kidney Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA414699720 rs1338479703 |
122 | V>E | No |
ClinGen gnomAD |
|
|
rs777511666 CA10520205 |
127 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs772108089 CA10520204 |
130 | C>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA414699571 rs1365194831 |
130 | C>F | No |
ClinGen gnomAD |
|
|
CA414699565 rs772108089 |
130 | C>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA335942564 rs984408004 |
131 | Q>E | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 133 | V>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10520203 rs749325749 |
133 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA10520200 rs373866552 |
136 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs757631601 CA10520198 |
139 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751969445 CA10520197 |
140 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA414699369 rs1238536581 |
141 | F>L | No |
ClinGen gnomAD |
|
|
CA10520196 rs199687528 |
143 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA414699317 rs1445029485 |
145 | S>N | No |
ClinGen TOPMed |
|
|
CA414699284 rs1353453238 |
147 | H>R | No |
ClinGen TOPMed |
|
|
CA10520195 rs61732904 |
147 | H>Y | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA10520193 rs765029523 COSM1569691 |
148 | A>T | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA gnomAD |
|
CA10520192 rs759077593 |
148 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA414699257 rs1342946300 |
149 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs770582451 CA10520190 |
150 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA414699247 rs1158617618 |
150 | P>L | No |
ClinGen gnomAD |
|
|
rs770582451 CA10520191 |
150 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759259683 CA10520188 |
151 | N>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1361706276 CA414699227 |
152 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs754122896 CA10520187 |
156 | D>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs369636843 CA10520186 |
157 | V>M | No |
ClinGen ESP ExAC TOPMed |
|
|
rs372952881 CA10520184 |
160 | I>M | No |
ClinGen ESP ExAC gnomAD |
|
|
rs376036313 CA10520185 |
160 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1569328988 CA414699118 |
161 | K>E | No |
ClinGen Ensembl |
|
|
CA10520182 COSM1598841 rs745953075 |
163 | R>C | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA10520181 rs781509777 |
163 | R>H | No |
ClinGen ExAC |
|
|
rs1446542251 CA414699076 |
164 | T>I | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 167 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1465081689 CA414699031 |
167 | A>V | No |
ClinGen TOPMed |
|
|
rs545226775 CA335942563 |
168 | L>F | No |
ClinGen Ensembl |
|
|
CA10520177 rs758709168 |
171 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA10520176 rs147545090 |
172 | M>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 173 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1292623438 CA414698931 |
174 | M>I | No |
ClinGen gnomAD |
|
|
CA10520175 rs149400555 |
174 | M>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs372789532 CA10520174 |
175 | N>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs768142194 CA335942562 |
177 | I>V | No |
ClinGen TOPMed |
|
| TCGA novel | 179 | R>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 182 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA414698814 rs1318485406 |
183 | K>E | No |
ClinGen gnomAD |
|
|
rs766017508 CA10520171 |
185 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753402635 CA10520172 COSM1556607 |
185 | K>R | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs369687070 CA10520169 |
190 | T>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA414698710 rs1251917111 |
191 | T>A | No |
ClinGen TOPMed |
|
|
CA414698684 rs767295052 |
192 | N>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1476694726 CA414698679 |
192 | N>K | No |
ClinGen gnomAD |
|
|
CA335942561 rs767295052 |
192 | N>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA10520168 rs767295052 |
192 | N>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA414698668 rs1243191435 |
193 | S>L | No |
ClinGen gnomAD |
|
|
rs761547932 CA10520167 |
194 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA10520165 rs35745873 CA10520166 |
195 | Q>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1257404233 CA414698634 |
195 | Q>L | No |
ClinGen TOPMed |
|
|
CA10520164 rs745932397 |
200 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs776887298 CA414698561 |
201 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs184162475 CA414698560 |
201 | R>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA10520162 rs184162475 |
201 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs776887298 COSM1625528 CA10520163 |
201 | R>W | liver [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs747201504 CA10520161 |
202 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA414698515 rs1193470914 |
204 | R>K | No |
ClinGen TOPMed |
|
|
rs572354829 CA10520160 |
205 | Q>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs748525964 CA10520158 |
208 | L>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10520159 rs748525964 |
208 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779376906 CA10520157 |
210 | R>K | No |
ClinGen ExAC gnomAD |
|
|
rs372437742 CA10520156 |
210 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA414698335 rs1362352762 |
215 | Q>H | No |
ClinGen gnomAD |
|
|
rs1267701291 CA414698331 |
216 | S>P | No |
ClinGen gnomAD |
|
|
rs1327524181 CA414698307 |
217 | E>D | No |
ClinGen gnomAD |
|
|
CA414698239 rs1393232272 |
222 | I>F | No |
ClinGen gnomAD |
|
|
CA414698230 rs1389056389 |
222 | I>M | No |
ClinGen TOPMed |
|
|
rs1295616767 CA414698235 |
222 | I>T | No |
ClinGen TOPMed |
|
|
rs368393446 CA10520154 |
223 | L>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA gnomAD |
|
rs374639205 CA10520153 |
224 | Q>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 225 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1291280395 CA414698161 |
227 | A>V | No |
ClinGen gnomAD |
|
|
rs767085124 CA10520151 |
229 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10520150 rs761613082 |
230 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs1468258210 CA414698106 |
232 | V>E | No |
ClinGen gnomAD |
|
|
rs926526206 CA335942560 |
232 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
CA414698062 rs1308973572 |
236 | Q>* | No |
ClinGen gnomAD |
|
|
rs774348613 CA10520149 |
237 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 240 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs763031638 CA10520147 |
240 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs367669821 CA10520148 |
240 | E>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA414698013 rs1213873379 |
240 | E>K | No |
ClinGen gnomAD |
|
|
rs367669821 CA414698007 |
240 | E>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1440993574 CA414697953 |
245 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA10520146 rs746359549 |
246 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA335942559 rs746359549 |
246 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10520145 rs770998600 |
249 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA10520143 rs373819303 |
251 | V>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10520144 rs373819303 |
251 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10520142 rs192032791 |
253 | H>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA414697855 rs192032791 |
253 | H>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA335942558 COSM1598842 rs865906208 |
254 | V>M | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
rs950321068 CA335942557 |
255 | P>A | No |
ClinGen TOPMed |
|
| TCGA novel | 256 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10520140 rs779291058 |
257 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs755458616 CA10520139 |
258 | I>N | No |
ClinGen ExAC gnomAD |
|
|
CA10520138 rs749746922 |
259 | I>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA414697782 rs1453814338 |
259 | I>V | No |
ClinGen gnomAD |
|
| TCGA novel | 260 | S>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs780457581 CA10520137 |
261 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs755588251 CA10520136 |
263 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA335942556 rs962419435 |
265 | T>N | No |
ClinGen TOPMed |
|
|
CA10520134 rs767188782 |
266 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA414697669 rs1282360197 |
267 | I>T | No |
ClinGen gnomAD |
|
|
CA10520133 rs756929660 |
267 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA414697659 rs1457767230 |
268 | N>T | No |
ClinGen TOPMed |
|
|
rs1362730752 CA414697604 |
272 | S>F | No |
ClinGen TOPMed |
|
|
CA414697601 rs1363372407 |
273 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA10520128 rs370913906 |
274 | D>N | No |
ClinGen ESP ExAC gnomAD |
|
|
CA10520129 rs370913906 |
274 | D>Y | No |
ClinGen ESP ExAC gnomAD |
|
|
CA414697555 rs1297604942 |
276 | S>* | No |
ClinGen TOPMed |
|
|
CA414697530 rs1373571114 |
278 | Y>F | No |
ClinGen gnomAD |
|
| TCGA novel | 279 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 280 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1048754786 CA335942554 |
281 | K>R | No |
ClinGen Ensembl |
|
|
CA414697481 rs1229894276 |
282 | F>L | No |
ClinGen TOPMed |
|
|
rs760796084 CA10520127 |
287 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs773230302 CA10520126 |
289 | H>D | No |
ClinGen ExAC gnomAD |
|
|
CA335942553 rs998351947 |
290 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
rs762072463 CA335942552 |
291 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA10520124 rs762072463 |
291 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1357454317 CA414697291 |
294 | V>M | No |
ClinGen gnomAD |
|
|
CA414697054 rs1287680881 |
301 | T>S | No |
ClinGen TOPMed |
|
|
CA414696984 rs1487081777 |
304 | L>P | No |
ClinGen TOPMed |
|
|
CA10520121 rs376822661 |
306 | S>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs930328053 CA335942550 |
306 | S>P | No |
ClinGen Ensembl |
|
|
rs1469511193 CA414696932 |
307 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs770264201 CA10520119 |
308 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10520118 rs780612876 |
309 | C>W | No |
ClinGen ExAC gnomAD |
|
|
CA414696885 rs1184093450 |
309 | C>Y | No |
ClinGen TOPMed |
|
|
CA414696831 rs1211455832 |
311 | A>V | No |
ClinGen gnomAD |
|
| TCGA novel | 312 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs751213260 CA10520115 |
314 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA414696768 rs1217306538 |
314 | L>R | No |
ClinGen gnomAD |
|
|
CA414696718 rs1382576771 |
316 | M>L | No |
ClinGen TOPMed |
|
|
CA414696716 rs1200788317 |
316 | M>T | No |
ClinGen gnomAD |
|
|
rs777568015 CA10520114 |
318 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA414696579 rs1305779426 |
322 | P>L | No |
ClinGen gnomAD |
|
|
rs1158277908 CA414696592 |
322 | P>S | No |
ClinGen TOPMed |
|
|
CA10520113 rs758208285 |
323 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
COSM1598844 rs752491742 CA10520112 |
327 | P>L | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA10520109 rs750495166 |
329 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1268478871 CA414696465 |
331 | E>K | No |
ClinGen gnomAD |
|
|
CA414696434 rs1489317436 |
332 | M>I | No |
ClinGen gnomAD |
|
|
CA414696440 rs1217577028 |
332 | M>L | No |
ClinGen gnomAD |
|
|
rs767448986 CA10520108 |
334 | Q>* | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 335 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10520107 rs761912849 |
339 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1344842659 CA414696339 |
339 | G>S | No |
ClinGen gnomAD |
|
|
CA335942549 rs761912849 |
339 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA414696328 rs1419697552 |
341 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
rs768883137 CA10520105 |
350 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA414696260 rs1206385987 |
351 | T>M | No |
ClinGen gnomAD |
|
|
CA414696265 rs1259819041 |
351 | T>P | No |
ClinGen gnomAD |
|
|
rs775789413 CA10520103 |
352 | W>* | No |
ClinGen ExAC gnomAD |
|
|
rs1320497384 CA414696234 |
355 | A>V | No |
ClinGen gnomAD |
|
|
rs141896027 CA10520102 |
356 | S>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA414696221 rs1240341171 |
357 | D>V | No |
ClinGen TOPMed |
|
|
rs749286965 CA10520100 |
361 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs199819175 CA10520099 |
362 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA414696189 rs1443444150 |
362 | A>V | No |
ClinGen gnomAD |
|
|
rs746528072 CA10520098 |
363 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA414696187 rs1165455706 |
363 | I>V | No |
ClinGen gnomAD |
|
|
rs188914178 CA335942548 |
364 | G>E | No |
ClinGen 1000Genomes |
|
|
CA335942547 rs1033100044 |
365 | M>V | No |
ClinGen Ensembl |
|
|
rs777553396 CA10520097 |
367 | A>D | No |
ClinGen ExAC gnomAD |
|
|
rs1603030456 CA414696155 |
368 | T>R | No |
ClinGen Ensembl |
|
|
CA414696140 rs1246938572 |
370 | S>F | No |
ClinGen gnomAD |
|
|
rs372309436 CA10520094 |
371 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs754825609 CA10520092 |
373 | S>C | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 374 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs369481531 CA335942545 |
375 | Y>* | No |
ClinGen ESP TOPMed |
|
|
rs1333293488 CA414696114 |
375 | Y>H | No |
ClinGen TOPMed |
|
|
CA335942544 COSM1155266 rs1044980404 |
377 | G>D | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
CA10520090 rs766310359 |
381 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1228729650 CA414696063 COSM1145560 |
383 | P>T | lung [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA414696049 rs1307404243 |
385 | V>I | No |
ClinGen gnomAD |
|
|
rs867144304 CA335942543 |
386 | E>K | No |
ClinGen gnomAD |
|
|
rs1277221204 CA414696016 |
389 | E>V | No |
ClinGen TOPMed |
|
|
rs1325395592 CA414695997 |
392 | D>N | No |
ClinGen gnomAD |
|
|
CA10520086 COSM1598846 rs375672208 |
395 | D>N | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP NCI-TCGA TOPMed |
|
rs183061934 CA414695959 CA414695960 |
396 | D>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1456702986 CA414695965 |
396 | D>N | No |
ClinGen TOPMed |
|
| TCGA novel | 397 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs775801098 CA10520083 |
399 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA10520082 rs765474569 |
403 | E>K | No |
ClinGen ExAC gnomAD |
No associated diseases with Q5H9I0
4 GO annotations of cellular component
| Name | Definition |
|---|---|
| chromatin | The ordered and organized complex of DNA, protein, and sometimes RNA, that forms the chromosome. |
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| 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. |
| transcription regulator complex | A protein complex that is capable of associating with DNA by direct binding, or via other DNA-binding proteins or complexes, and regulating transcription. |
4 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). |
| DNA-binding transcription factor binding | Binding to a DNA-binding transcription factor, a protein that interacts with a specific DNA sequence (sometimes referred to as a motif) within the regulatory region of a gene to modulate transcription. |
| RNA polymerase II-specific DNA-binding transcription factor binding | Binding to a sequence-specific DNA binding RNA polymerase II transcription factor, any of the factors that interact selectively and non-covalently with a specific DNA sequence in order to modulate transcription. |
| transcription regulator inhibitor activity | A molecular function regulator that inhibits the activity of a transcription regulator via direct binding and/or post-translational modification. |
5 GO annotations of biological process
| Name | Definition |
|---|---|
| cellular response to DNA damage stimulus | Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus indicating damage to its DNA from environmental insults or errors during metabolism. |
| G1/S transition of mitotic cell cycle | The mitotic cell cycle transition by which a cell in G1 commits to S phase. The process begins with the build up of G1 cyclin-dependent kinase (G1 CDK), resulting in the activation of transcription of G1 cyclins. The process ends with the positive feedback of the G1 cyclins on the G1 CDK which commits the cell to S phase, in which DNA replication is initiated. |
| negative regulation of DNA-binding transcription factor activity | Any process that stops, prevents, or reduces the frequency, rate or extent of the activity of a transcription factor, any factor involved in the initiation or regulation of transcription. |
| negative regulation of G1/S transition of mitotic cell cycle | Any signalling pathway that decreases or inhibits the activity of a cell cycle cyclin-dependent protein kinase to modulate the switch from G1 phase to S phase of the mitotic cell cycle. |
| regulation of transcription by RNA polymerase II | Any process that modulates the frequency, rate or extent of transcription mediated by RNA polymerase II. |
No homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| No homologous proteins | ||||
| 10 | 20 | 30 | 40 | 50 | 60 |
| MAKYVSLTEA | NEELKVLMDE | NQTSRPVAVH | TSTVNPLGKQ | LLPKTFGQSS | VNIDQQVVIG |
| 70 | 80 | 90 | 100 | 110 | 120 |
| MPQRPAASNI | PVVGSPNPPS | THFASQNQHS | YSSPPWAGQH | NRKGEKNGMG | LCRLSMKVWE |
| 130 | 140 | 150 | 160 | 170 | 180 |
| TVQRKGTTSC | QEVVGELVAK | FRAASNHASP | NESAYDVKNI | KRRTYDALNV | LMAMNIISRE |
| 190 | 200 | 210 | 220 | 230 | 240 |
| KKKIKWIGLT | TNSAQNCQNL | RVERQKRLER | IKQKQSELQQ | LILQQIAFKN | LVLRNQYVEE |
| 250 | 260 | 270 | 280 | 290 | 300 |
| QVSQRPLPNS | VIHVPFIIIS | SSKKTVINCS | ISDDKSEYLF | KFNSSFEIHD | DTEVLMWMGM |
| 310 | 320 | 330 | 340 | 350 | 360 |
| TFGLESGSCS | AEDLKMARNL | VPKALEPYVT | EMAQGTFGGV | FTTAGSRSNG | TWLSASDLTN |
| 370 | 380 | 390 | 400 | ||
| IAIGMLATSS | GGSQYSGSRV | ETPAVEEEEE | EDNNDDDLSE | NDEDD |