O95551
PR
Gene name |
TDP2 |
Protein name |
Tyrosyl-DNA phosphodiesterase 2 |
Names |
Tyr-DNA phosphodiesterase 2, hTDP2, 5'-tyrosyl-DNA phosphodiesterase, 5'-Tyr-DNA phosphodiesterase, ETS1-associated protein 2, ETS1-associated protein II, EAPII, TRAF and TNF receptor-associated protein, Tyrosyl-RNA phosphodiesterase, VPg unlinkase |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:51567 |
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
298 variants for O95551
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA3658284 RCV001332149 rs760554150 |
33 | A>S | Autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome due to TUD deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs879255601 CA10576344 RCV000211707 |
138 | S>* | Autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome due to TUD deficiency [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA3658004 rs142438588 RCV003149159 |
317 | R>* | Autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome due to TUD deficiency Variant assessed as Somatic; 0.0 impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001169848 rs770844602 |
2 | E>* | No |
ClinVar dbSNP |
|
|
CA3658322 rs201104912 |
2 | E>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA3658324 rs770844602 |
2 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3658321 rs777517528 |
3 | L>* | No |
ClinGen ExAC gnomAD |
|
|
CA362973671 rs777517528 |
3 | L>W | No |
ClinGen ExAC gnomAD |
|
|
rs778744134 CA3658318 |
5 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA362973635 rs1383090282 |
5 | S>N | No |
ClinGen gnomAD |
|
|
CA3658315 RCV000950144 rs61760186 |
6 | C>F | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs61760186 CA3658316 |
6 | C>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3658317 rs61760186 |
6 | C>Y | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1267394077 CA362973590 |
7 | L>P | No |
ClinGen gnomAD |
|
|
CA362973575 rs1386987037 |
8 | E>A | No |
ClinGen TOPMed |
|
|
rs764469672 CA3658311 |
8 | E>K | No |
ClinGen ExAC |
|
|
CA136140254 rs1001662438 |
9 | G>A | No |
ClinGen Ensembl |
|
|
rs1334570797 CA362973551 |
10 | G>R | No |
ClinGen gnomAD |
|
|
rs776653065 CA362973528 |
11 | R>K | No |
ClinGen ExAC gnomAD |
|
|
rs776653065 CA3658306 |
11 | R>M | No |
ClinGen ExAC gnomAD |
|
|
CA3658305 rs770777577 |
11 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs776653065 CA3658307 |
11 | R>T | No |
ClinGen ExAC gnomAD |
|
|
rs746736116 CA3658304 |
12 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM3719280 rs771868751 CA3658302 |
14 | A>V | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs1291385423 CA362973455 |
15 | E>K | No |
ClinGen gnomAD |
|
|
CA362973398 rs1460630158 |
18 | G>D | No |
ClinGen gnomAD |
|
|
CA362973374 rs778549935 |
19 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA136140224 rs796178595 |
20 | P>A | No |
ClinGen Ensembl |
|
|
CA362973329 rs779185834 |
21 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1582428319 CA362973309 |
22 | V>G | No |
ClinGen Ensembl |
|
|
rs199594700 CA3658299 |
22 | V>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA362973304 rs1199474645 |
23 | K>* | No |
ClinGen gnomAD |
|
|
CA362973301 rs1433893910 |
23 | K>R | No |
ClinGen gnomAD |
|
|
rs753545235 CA3658297 |
24 | K>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs779514628 CA3658296 |
24 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764713488 CA3658294 |
26 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764713488 CA3658293 |
26 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1582428295 CA362973251 |
27 | L>R | No |
ClinGen Ensembl |
|
|
rs765307607 CA3658290 |
28 | L>R | No |
ClinGen ExAC gnomAD |
|
|
rs146127613 CA3658291 RCV000959613 |
28 | L>V | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs776938646 CA3658287 |
31 | E>A | No |
ClinGen ExAC gnomAD |
|
|
CA362973196 rs1439730417 |
31 | E>D | No |
ClinGen gnomAD |
|
|
CA3658286 rs761457468 |
32 | F>* | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 32 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3658285 rs760554150 |
33 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA362973142 rs1462495884 |
34 | S>L | No |
ClinGen TOPMed |
|
|
CA362973113 rs1383943146 |
36 | A>T | No |
ClinGen gnomAD |
|
|
rs890380136 CA136140098 |
37 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1276764084 CA362973062 |
38 | C>* | No |
ClinGen TOPMed gnomAD |
|
|
rs200485971 CA3658280 |
39 | D>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 40 | A>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1562152158 CA362973045 |
40 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA3658278 rs748758001 |
41 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA362973006 rs1248950116 |
42 | V>G | No |
ClinGen gnomAD |
|
|
CA3658277 rs779796863 |
44 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1463858701 CA362972974 |
44 | Q>H | No |
ClinGen gnomAD |
|
|
rs200802722 CA3658276 |
45 | C>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777996628 CA3658274 |
48 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3658272 COSM3829765 rs753218291 |
52 | W>* | breast [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA3658271 rs765688086 |
53 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1225690968 CA362972797 |
54 | M>I | No |
ClinGen gnomAD |
|
|
CA3658270 rs35306604 |
54 | M>R | No |
ClinGen ExAC gnomAD |
|
|
CA362972801 rs35306604 |
54 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA3658251 rs754004696 |
57 | A>P | No |
ClinGen ExAC gnomAD |
|
|
CA362972684 rs1408536242 |
57 | A>V | No |
ClinGen TOPMed |
|
|
CA362972676 rs1416104452 |
58 | L>P | No |
ClinGen gnomAD |
|
|
CA362972678 rs1474007893 |
58 | L>V | No |
ClinGen gnomAD |
|
|
CA3658250 rs35744230 RCV000881100 |
59 | N>D | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1356554993 CA362972661 |
59 | N>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1178964711 CA362972619 |
61 | Y>* | No |
ClinGen TOPMed gnomAD |
|
|
CA362972627 rs1253362218 |
61 | Y>C | No |
ClinGen gnomAD |
|
|
rs980296055 CA362972577 |
64 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
CA136139950 rs980296055 |
64 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
rs767799429 CA3658247 |
65 | P>Q | No |
ClinGen ExAC gnomAD |
|
|
CA362972546 rs1354039132 |
66 | V>E | No |
ClinGen gnomAD |
|
|
rs761730495 CA3658246 |
66 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3658245 rs774266776 |
67 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3658244 rs764184914 |
67 | E>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762798149 CA3658243 |
68 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA136139924 rs969311995 |
70 | A>P | No |
ClinGen Ensembl |
|
|
CA362972481 rs1440189135 |
70 | A>V | No |
ClinGen gnomAD |
|
|
rs769203472 CA3658241 |
72 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA136139920 rs1021778454 |
72 | E>K | No |
ClinGen TOPMed |
|
|
CA362972434 rs1440749528 |
73 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA362972429 rs1324504135 |
73 | R>H | No |
ClinGen gnomAD |
|
|
CA362972419 rs1392767053 |
74 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA362972409 rs1474863338 |
75 | P>A | No |
ClinGen TOPMed |
|
|
rs776300645 CA3658239 |
75 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1458233192 CA362972363 |
77 | T>I | No |
ClinGen gnomAD |
|
|
rs779231725 CA3658237 |
78 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3658235 rs769270221 |
79 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM595233 CA3658234 rs143844222 |
80 | E>K | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA362972306 rs756169471 |
81 | P>H | No |
ClinGen ExAC gnomAD |
|
|
rs756169471 CA3658232 |
81 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs780551850 CA3658233 |
81 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs781614136 CA3658230 |
82 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs1031124199 CA136139852 |
83 | T>I | No |
ClinGen TOPMed |
|
|
CA3658229 rs757539692 |
84 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA362972252 rs1209200614 |
84 | Y>D | No |
ClinGen gnomAD |
|
|
CA362972248 rs757539692 |
84 | Y>F | No |
ClinGen ExAC gnomAD |
|
|
rs1355309536 CA362989299 |
85 | V>A | No |
ClinGen gnomAD |
|
|
CA362989218 rs1436699320 |
89 | N>D | No |
ClinGen TOPMed gnomAD |
|
|
CA3658191 RCV000901410 rs61757564 |
89 | N>S | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA3658190 rs746383136 |
90 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA136165125 rs895488148 |
97 | T>A | No |
ClinGen TOPMed |
|
|
rs747049195 CA136165103 |
97 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747049195 CA3658187 |
97 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA362988997 rs1211200558 |
98 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA3658186 rs375353513 |
99 | K>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs758629003 CA3658185 |
102 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758629003 CA362988884 |
102 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA362988804 rs1361743035 |
104 | E>K | No |
ClinGen TOPMed |
|
|
CA136165080 rs1026452149 |
105 | D>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA3658183 rs372058337 |
106 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3658182 rs565103897 |
107 | Q>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA362988754 rs565103897 |
107 | Q>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1269374875 CA362988681 |
111 | G>V | No |
ClinGen gnomAD |
|
|
CA362988661 rs1314646872 |
113 | M>L | No |
ClinGen gnomAD |
|
|
CA3658179 rs749917446 |
116 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3658178 rs749917446 |
116 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs993194887 CA136165048 |
117 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA3658176 rs761522826 |
121 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA362988525 rs1582422856 |
122 | D>N | No |
ClinGen Ensembl |
|
|
rs1413293519 CA362988509 |
123 | G>R | No |
ClinGen gnomAD |
|
|
rs1439964797 CA362988487 |
124 | L>F | No |
ClinGen gnomAD |
|
|
rs759933045 CA3658173 |
125 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA3658174 rs765648402 |
125 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA362988473 rs1441592351 |
126 | L>I | No |
ClinGen gnomAD |
|
|
CA136164976 rs941592436 |
128 | N>D | No |
ClinGen TOPMed gnomAD |
|
|
rs369086085 CA3658172 |
128 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1562148727 RCV000760521 CA362988423 |
130 | S>* | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs747139051 CA3658170 |
133 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs377119756 CA362988400 |
134 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs377119756 CA3658169 |
134 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA136164949 rs772244923 |
134 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772244923 CA3658168 COSM1076517 |
134 | R>Q | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA3658164 rs749041076 |
136 | V>G | No |
ClinGen ExAC |
|
|
rs754787459 CA3658165 |
136 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780006118 CA3658163 |
137 | C>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3658162 rs756022937 |
138 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs1349398619 CA362988357 |
141 | A>G | No |
ClinGen gnomAD |
|
| TCGA novel | 141 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1485863094 CA362988333 |
143 | Y>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1434340879 CA362988328 |
144 | S>G | No |
ClinGen gnomAD |
|
|
rs200729372 CA3658138 |
144 | S>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA136164311 rs267600903 |
147 | V>G | No |
ClinGen Ensembl |
|
|
rs758114038 CA3658137 |
149 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1460830651 CA362988293 |
149 | F>S | No |
ClinGen TOPMed gnomAD |
|
|
CA136164293 rs144064433 |
151 | Q>L | No |
ClinGen ESP |
|
|
CA3658136 rs754324675 |
152 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754324675 CA136164285 |
152 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760887221 CA3658134 |
153 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA136164279 rs1047009007 |
155 | P>R | No |
ClinGen Ensembl |
|
|
CA362988252 rs1186686017 |
156 | P>S | No |
ClinGen gnomAD |
|
|
rs1167547323 CA823329059 |
160 | Y>* | No |
ClinGen TOPMed |
|
|
rs1193684170 CA362988219 |
160 | Y>F | No |
ClinGen gnomAD |
|
|
CA3658131 rs761991069 |
161 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1336565250 CA362988200 |
163 | K>R | No |
ClinGen TOPMed |
|
|
CA3658128 rs35977478 VAR_051464 |
166 | S>G | No |
ClinGen UniProt ExAC TOPMed dbSNP gnomAD |
|
|
rs991220151 CA136164219 |
167 | N>D | No |
ClinGen Ensembl |
|
|
CA136164216 rs934618015 |
172 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
CA3658125 rs769599954 |
172 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA362987139 rs1323626479 |
174 | H>Q | No |
ClinGen TOPMed |
|
|
CA3658108 rs775719133 |
174 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs1224824604 CA362987134 |
175 | E>K | No |
ClinGen TOPMed |
|
|
CA3658107 rs765344588 |
176 | E>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 177 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1562147316 CA362986985 |
180 | T>I | No |
ClinGen Ensembl |
|
|
CA3658105 rs776274216 |
182 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA362986964 rs1469174828 |
182 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs770963867 CA3658104 CA362986929 |
183 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA136162524 rs899145526 |
186 | K>I | No |
ClinGen gnomAD |
|
|
CA362986879 rs899145526 |
186 | K>R | No |
ClinGen gnomAD |
|
|
CA362986848 rs1209809150 RCV000734588 |
187 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ClinVar NCI-TCGA TOPMed dbSNP |
|
CA362986791 rs1582420627 |
189 | V>G | No |
ClinGen Ensembl |
|
|
rs746943158 CA3658103 |
189 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1282064941 CA362986740 |
191 | L>F | No |
ClinGen gnomAD |
|
|
CA362986757 rs1037727835 |
191 | L>I | No |
ClinGen gnomAD |
|
|
CA136162511 rs1037727835 |
191 | L>V | No |
ClinGen gnomAD |
|
|
CA3658101 rs370316626 |
193 | S>C | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1304498503 CA362986631 |
196 | I>L | No |
ClinGen gnomAD |
|
|
CA3658098 rs778750350 |
198 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA136162475 rs778750350 |
198 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs267600902 CA136162486 |
198 | P>S | No |
ClinGen Ensembl |
|
| TCGA novel | 199 | F>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1432116169 CA362986525 |
201 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
rs746303603 CA3658096 |
206 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA362986387 rs1399660567 |
207 | N>S | No |
ClinGen gnomAD |
|
|
rs1582420576 CA362986373 |
208 | L>I | No |
ClinGen Ensembl |
|
|
rs781406884 CA3658095 |
209 | L>S | No |
ClinGen ExAC gnomAD |
|
|
CA3658094 rs757575420 |
210 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
CA362986296 rs1449771774 |
211 | V>A | No |
ClinGen Ensembl |
|
|
rs752083509 CA3658093 |
212 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs1186961817 CA362986261 |
212 | H>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1129644 CA362985845 |
214 | N>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA362985834 rs1272661971 |
216 | S>* | No |
ClinGen TOPMed |
|
|
CA3658073 rs757593327 |
217 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA362985814 rs1309661723 |
219 | E>V | No |
ClinGen gnomAD |
|
|
rs778299111 CA3658071 |
224 | T>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA362985767 rs1285933137 |
226 | H>R | No |
ClinGen TOPMed |
|
|
rs758885890 CA3658070 |
232 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA362985719 rs1298424370 |
233 | H>L | No |
ClinGen gnomAD |
|
|
CA362985720 rs1377771801 |
233 | H>Y | No |
ClinGen gnomAD |
|
|
CA3658068 rs752837935 |
234 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA3658067 rs375948102 |
235 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1461764792 CA362985704 |
236 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1461764792 CA362985703 |
236 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs752399511 CA136161580 |
237 | R>* | Variant assessed as Somatic; 4.621e-05 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA136161579 rs893794246 |
237 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs766587845 CA3658064 |
238 | M>L | No |
ClinGen ExAC gnomAD |
|
|
rs1178017250 CA362985685 |
239 | N>H | No |
ClinGen gnomAD |
|
|
CA362985662 rs1361017980 |
242 | K>E | No |
ClinGen gnomAD |
|
|
rs750223762 CA3658062 CA362985649 |
243 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760589504 CA3658063 |
243 | M>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 243 | M>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1198481964 CA362985644 |
244 | V>D | No |
ClinGen gnomAD |
|
|
VAR_022634 CA3658060 rs2294689 |
249 | Q>E | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA362985594 rs1307016253 |
251 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs768064857 CA3658058 |
251 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA362985579 rs1370812223 |
253 | E>G | No |
ClinGen gnomAD |
|
|
rs776721112 CA136161528 |
255 | A>P | No |
ClinGen Ensembl |
|
|
CA362985557 rs1562146685 |
257 | V>F | No |
ClinGen Ensembl |
|
|
CA3658057 rs762485056 |
258 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1396365352 CA362985551 |
258 | I>V | No |
ClinGen gnomAD |
|
|
CA3658056 rs775044884 |
259 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs769412827 CA3658055 |
259 | F>S | No |
ClinGen ExAC gnomAD |
|
|
CA362985511 rs747429858 |
264 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs747429858 CA3658054 |
264 | N>T | No |
ClinGen ExAC gnomAD |
|
|
CA362985492 rs1406127234 |
267 | D>A | No |
ClinGen TOPMed gnomAD |
|
|
CA362985490 rs1406127234 |
267 | D>V | No |
ClinGen TOPMed gnomAD |
|
|
rs772352587 CA3658052 |
268 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3658051 VAR_022635 rs17249952 |
268 | R>Q | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
| TCGA novel | 271 | T>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs746102191 CA3658026 |
273 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA362984880 rs1361681534 |
274 | G>R | No |
ClinGen TOPMed |
|
|
rs1297587138 CA362984860 |
275 | G>S | No |
ClinGen gnomAD |
|
|
rs139085454 CA3658025 |
278 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA362984762 rs1036211332 |
279 | N>K | No |
ClinGen gnomAD |
|
|
rs375654749 CA3658024 |
279 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3658022 rs763995072 |
280 | I>N | No |
ClinGen ExAC gnomAD |
|
|
CA362984752 rs763995072 |
280 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs751347138 CA3658023 |
280 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs763334299 CA136160301 |
282 | D>A | No |
ClinGen Ensembl |
|
|
CA136160302 rs906748342 |
282 | D>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA362984695 rs1477094205 |
283 | V>I | No |
ClinGen gnomAD |
|
|
CA362984612 rs1261840388 |
284 | W>* | No |
ClinGen gnomAD |
|
|
CA136160299 rs949915126 |
286 | F>S | No |
ClinGen TOPMed gnomAD |
|
|
RCV000238988 rs758350133 CA3658021 |
287 | L>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA362984377 rs1562145924 |
292 | H>R | No |
ClinGen Ensembl |
|
|
CA3658018 rs544356367 |
293 | C>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA136160259 rs1056155317 |
294 | Q>H | No |
ClinGen Ensembl |
|
|
rs758993809 CA3658017 |
294 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA362984220 rs1293815679 |
298 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
CA362984232 rs1317295167 |
298 | D>Y | No |
ClinGen gnomAD |
|
|
rs1415525607 CA362984178 |
300 | Q>R | No |
ClinGen gnomAD |
|
|
rs1465620409 CA362984163 |
301 | M>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 302 | N>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs774768351 CA3658013 |
305 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA3658012 rs77273535 RCV000891730 VAR_076867 |
307 | I>V | slightly decreased phosphodiesterase activity [UniProt] | No |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA3658011 rs200729725 |
308 | T>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs545117739 CA3658010 |
310 | A>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 310 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3658009 rs770016841 |
312 | K>E | No |
ClinGen ExAC gnomAD |
|
|
COSM1076512 rs745911675 CA3658008 |
314 | R>C | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs781613923 CA3658007 |
314 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs758067744 CA3658002 |
318 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752649752 CA3658001 |
322 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3658000 rs765115330 |
323 | A>V | No |
ClinGen ExAC |
|
|
rs1273777339 CA362983817 |
325 | E>K | No |
ClinGen gnomAD |
|
|
CA362983800 rs1235015365 |
326 | E>G | No |
ClinGen gnomAD |
|
|
rs1244337335 CA362983772 |
329 | I>V | No |
ClinGen gnomAD |
|
|
CA3657997 rs775886529 |
332 | R>* | No |
ClinGen ExAC gnomAD |
|
|
CA362983737 rs1445083090 |
332 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1327192432 CA362983706 |
335 | D>A | No |
ClinGen gnomAD |
|
| TCGA novel | 335 | D>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA136160156 rs976894285 |
336 | L>V | No |
ClinGen Ensembl |
|
|
rs148051522 CA3657994 |
337 | L>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs148051522 CA136160146 |
337 | L>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA362983642 rs1365231068 |
341 | K>T | No |
ClinGen gnomAD |
|
| TCGA novel | 342 | L>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1176359807 CA362983605 |
344 | C>S | No |
ClinGen gnomAD |
|
|
rs199528335 CA3657992 |
345 | G>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3657993 rs202040495 |
345 | G>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3657991 rs776172419 |
346 | R>G | No |
ClinGen ExAC |
|
|
CA136160118 rs965971283 |
347 | F>L | No |
ClinGen Ensembl |
|
|
rs367700182 CA3657988 |
349 | S>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1215805990 CA362983523 |
349 | S>T | No |
ClinGen TOPMed |
|
|
rs199602263 CA3657987 |
350 | D>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1425244849 CA362983481 |
352 | W>* | No |
ClinGen TOPMed gnomAD |
|
|
CA362983479 rs1425244849 |
352 | W>C | No |
ClinGen TOPMed gnomAD |
|
|
CA3657986 rs770848492 |
353 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA3657985 rs747265150 |
356 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
CA362983414 rs1376645761 |
358 | L>F | No |
ClinGen gnomAD |
|
|
rs143559471 CA3657984 |
358 | L>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 359 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA362983387 rs1304547585 |
360 | I>T | No |
ClinGen gnomAD |
|
|
rs771928592 CA3657983 |
361 | I>M | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 363 | L>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
1 associated diseases with O95551
[MIM: 616949]: Spinocerebellar ataxia, autosomal recessive, 23 (SCAR23)
A form of spinocerebellar ataxia, a clinically and genetically heterogeneous group of cerebellar disorders due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCAR23 patients manifest epilepsy, intellectual disability, and gait ataxia. {ECO:0000269|PubMed:24658003}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- A form of spinocerebellar ataxia, a clinically and genetically heterogeneous group of cerebellar disorders due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCAR23 patients manifest epilepsy, intellectual disability, and gait ataxia. {ECO:0000269|PubMed:24658003}. Note=The disease is caused by variants affecting the gene represented in this entry.
1 regional properties for O95551
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Endonuclease/exonuclease/phosphatase | 118 - 351 | IPR005135 |
Functions
7 GO annotations of cellular component
| Name | Definition |
|---|---|
| aggresome | An inclusion body formed by dynein-dependent retrograde transport of an aggregated protein on microtubules. |
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| nuclear body | Extra-nucleolar nuclear domains usually visualized by confocal microscopy and fluorescent antibodies to specific proteins. |
| nucleolus | A small, dense body one or more of which are present in the nucleus of eukaryotic cells. It is rich in RNA and protein, is not bounded by a limiting membrane, and is not seen during mitosis. Its prime function is the transcription of the nucleolar DNA into 45S ribosomal-precursor RNA, the processing of this RNA into 5.8S, 18S, and 28S components of ribosomal RNA, and the association of these components with 5S RNA and proteins synthesized outside the nucleolus. This association results in the formation of ribonucleoprotein precursors; these pass into the cytoplasm and mature into the 40S and 60S subunits of the ribosome. |
| 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. |
| PML body | A class of nuclear body; they react against SP100 auto-antibodies (PML, promyelocytic leukemia); cells typically contain 10-30 PML bodies per nucleus; alterations in the localization of PML bodies occurs after viral infection. |
7 GO annotations of molecular function
| Name | Definition |
|---|---|
| 5'-tyrosyl-DNA phosphodiesterase activity | Catalysis of the hydrolysis of 5'-phosphotyrosyl groups formed as covalent intermediates (in DNA backbone breakage) between DNA topoisomerase II and DNA. |
| magnesium ion binding | Binding to a magnesium (Mg) ion. |
| manganese ion binding | Binding to a manganese ion (Mn). |
| nuclease activity | Catalysis of the hydrolysis of ester linkages within nucleic acids. |
| single-stranded DNA binding | Binding to single-stranded DNA. |
| transcription corepressor activity | A transcription coregulator activity that represses or decreases the transcription of specific gene sets via binding to a DNA-bound DNA-binding transcription factor, either on its own or as part of a complex. Corepressors often act by altering chromatin structure and modifications. For example, one class of transcription corepressors modifies chromatin structure through covalent modification of histones. A second class remodels the conformation of chromatin in an ATP-dependent fashion. A third class modulates interactions of DNA-bound DNA-binding transcription factors with other transcription coregulators. |
| tyrosyl-RNA phosphodiesterase activity | Catalysis of the hydrolysis of a 5' tyrosyl-RNA phosphodiester bond between a protein and RNA. In picornaviruses, this covalent bond connects VPg, a viral-encoded protein essential for RNA replication, to the 5' end of all nascent picornavirus genomes; it is cleaved from viral RNA prior to its engaging in protein synthesis. |
3 GO annotations of biological process
| Name | Definition |
|---|---|
| cell surface receptor signaling pathway | The series of molecular signals initiated by activation of a receptor on the surface of a cell. The pathway begins with binding of an extracellular ligand to a cell surface receptor, or for receptors that signal in the absence of a ligand, by ligand-withdrawal or the activity of a constitutively active receptor. The pathway ends with regulation of a downstream cellular process, e.g. transcription. |
| double-strand break repair | The repair of double-strand breaks in DNA via homologous and nonhomologous mechanisms to reform a continuous DNA helix. |
| neuron development | The process whose specific outcome is the progression of a neuron over time, from initial commitment of the cell to a specific fate, to the fully functional differentiated cell. |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MELGSCLEGG | REAAEEEGEP | EVKKRRLLCV | EFASVASCDA | AVAQCFLAEN | DWEMERALNS |
| 70 | 80 | 90 | 100 | 110 | 120 |
| YFEPPVEESA | LERRPETISE | PKTYVDLTNE | ETTDSTTSKI | SPSEDTQQEN | GSMFSLITWN |
| 130 | 140 | 150 | 160 | 170 | 180 |
| IDGLDLNNLS | ERARGVCSYL | ALYSPDVIFL | QEVIPPYYSY | LKKRSSNYEI | ITGHEEGYFT |
| 190 | 200 | 210 | 220 | 230 | 240 |
| AIMLKKSRVK | LKSQEIIPFP | STKMMRNLLC | VHVNVSGNEL | CLMTSHLEST | RGHAAERMNQ |
| 250 | 260 | 270 | 280 | 290 | 300 |
| LKMVLKKMQE | APESATVIFA | GDTNLRDREV | TRCGGLPNNI | VDVWEFLGKP | KHCQYTWDTQ |
| 310 | 320 | 330 | 340 | 350 | 360 |
| MNSNLGITAA | CKLRFDRIFF | RAAAEEGHII | PRSLDLLGLE | KLDCGRFPSD | HWGLLCNLDI |
| IL |