Q3SXZ7
PR
Gene name |
TTLL9 |
Protein name |
Probable tubulin polyglutamylase TTLL9 |
Names |
Tubulin--tyrosine ligase-like protein 9 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:164395 |
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 Q3SXZ7
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q3SXZ7-F1 | Predicted | AlphaFoldDB |
388 variants for Q3SXZ7
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA408536543 rs1298644672 |
2 | V>G | No |
ClinGen TOPMed |
|
|
rs765491858 CA9804095 |
4 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 5 | R>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1288431258 CA408536595 |
6 | E>V | No |
ClinGen Ensembl |
|
|
rs1218896662 CA408536613 |
7 | A>V | No |
ClinGen gnomAD |
|
|
CA9804096 rs371795400 |
9 | L>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs758577148 CA9804097 |
10 | G>* | No |
ClinGen ExAC gnomAD |
|
|
CA313879276 rs773296463 |
11 | P>R | No |
ClinGen Ensembl |
|
|
rs1456271640 CA408536648 |
11 | P>T | No |
ClinGen gnomAD |
|
|
CA408536654 rs374818872 |
12 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9804098 rs374818872 |
12 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs954836328 CA313879293 |
14 | T>I | No |
ClinGen TOPMed |
|
| TCGA novel | 16 | I>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9804100 rs757209351 |
17 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1372144555 CA408536702 |
18 | C>Y | No |
ClinGen TOPMed |
|
|
CA313879303 rs367892366 |
21 | K>R | No |
ClinGen ESP TOPMed |
|
|
CA9804153 rs770326686 |
24 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746228771 CA9804152 |
24 | N>S | No |
ClinGen ExAC |
|
| TCGA novel | 26 | N>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9804154 rs775954296 |
27 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
CA408531007 rs1173407945 |
29 | G>D | No |
ClinGen TOPMed |
|
|
CA9804155 rs749750761 |
30 | H>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9804156 rs749750761 |
30 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762112900 CA9804158 |
35 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA313858605 rs977032718 |
36 | K>E | No |
ClinGen Ensembl |
|
|
rs200635762 CA9804159 |
37 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA9804160 rs773203476 COSM1025627 |
38 | R>* | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs773203476 CA408531078 |
38 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764643577 CA9804161 |
38 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9804180 rs374417174 |
39 | E>D | No |
ClinGen ESP ExAC gnomAD |
|
|
CA9804179 rs555434314 |
39 | E>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9804181 rs759530531 |
40 | Q>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9804182 rs765082910 |
42 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA313865086 rs1033086542 |
42 | A>V | No |
ClinGen TOPMed |
|
|
rs753929489 CA9804183 |
43 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA9804184 rs757826475 |
44 | I>S | No |
ClinGen ExAC gnomAD |
|
|
CA9804186 rs371118511 |
45 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs368805639 CA9804185 |
45 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA9804187 rs199628776 |
49 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1268877 CA313865131 rs912109246 |
51 | M>I | oesophagus [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
CA9804190 rs755571932 |
51 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA9804189 rs749642875 |
51 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs779252725 CA9804191 |
52 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs1336636476 CA408532183 |
53 | T>A | No |
ClinGen TOPMed |
|
|
CA408532204 rs1404542391 |
55 | M>T | No |
ClinGen gnomAD |
|
|
CA9804195 rs373587211 |
56 | D>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs772063026 CA9804193 |
56 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 56 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs543250716 CA408532215 |
57 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9804197 rs543250716 |
57 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9804196 rs543250716 |
57 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201229092 CA9804200 |
59 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs147502895 CA9804201 |
59 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9804199 rs201229092 |
59 | R>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs763601317 CA9804202 |
61 | R>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1158546188 CA408532250 |
61 | R>S | No |
ClinGen gnomAD |
|
|
rs751014899 CA9804203 |
62 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs1237875458 CA408532260 |
63 | G>R | No |
ClinGen gnomAD |
|
|
rs1230983786 CA408532271 |
64 | W>* | No |
ClinGen TOPMed |
|
|
CA9804205 rs374914639 |
64 | W>C | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1485445762 CA408532268 |
64 | W>R | No |
ClinGen gnomAD |
|
| TCGA novel | 66 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1265699101 | 66 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9804224 rs199888998 |
69 | D>= | Variant assessed as Somatic; 9.281e-05 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs199888998 CA408533717 |
69 | D>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 69 | D>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM184916 CA9804225 rs564856380 |
70 | E>K | Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs1322527000 CA408533747 |
71 | G>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA9804226 rs184016363 |
71 | G>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA408533762 rs1177961592 |
72 | E>G | No |
ClinGen gnomAD |
|
|
CA408533787 rs1347590394 CA408533789 |
74 | D>E | No |
ClinGen gnomAD |
|
| TCGA novel | 74 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs369959828 CA9804227 |
75 | F>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1568788052 CA408533836 |
76 | Y>* | No |
ClinGen Ensembl |
|
|
CA313871829 rs17093689 VAR_039805 |
76 | Y>C | No |
ClinGen UniProt Ensembl dbSNP |
|
|
CA408533849 rs1329603956 |
77 | W>G | No |
ClinGen TOPMed |
|
|
CA408533858 rs753045954 |
77 | W>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9804229 rs753045954 |
77 | W>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9804230 rs201898507 |
78 | C>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1237631633 CA408533913 |
79 | D>V | No |
ClinGen gnomAD |
|
|
rs376433493 CA9804232 |
80 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA9804234 rs200777586 |
84 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs757435072 CA9804233 |
84 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1178362255 CA408534130 |
85 | E>D | No |
ClinGen TOPMed |
|
|
CA9804235 rs746084067 |
87 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs779774577 CA9804237 |
88 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs768623902 CA9804239 |
91 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA408534283 rs1444461103 |
92 | M>I | No |
ClinGen gnomAD |
|
|
rs774247125 CA9804240 |
92 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9804241 rs748025431 |
94 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA9804243 rs377173832 |
95 | H>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs766041516 CA9804245 |
97 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1025629 rs760256556 CA9804244 |
97 | R>W | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA408534424 rs1444438286 |
98 | I>V | No |
ClinGen gnomAD |
|
|
rs1443931984 CA408534456 |
99 | S>G | No |
ClinGen gnomAD |
|
|
rs117415805 CA9804249 |
102 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs117415805 CA9804248 COSM577228 |
102 | R>Q | lung [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
CA9804246 rs533035384 |
102 | R>W | No |
ClinGen ExAC TOPMed |
|
|
CA408534552 rs1343291701 |
103 | N>K | No |
ClinGen TOPMed |
|
|
CA9804250 rs752145440 |
105 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA9804251 rs757772822 |
106 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA313872895 rs781348407 |
108 | T>N | No |
ClinGen TOPMed |
|
|
rs373817649 CA9804278 |
109 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs201626737 CA9804276 |
109 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1404061659 CA408535281 |
110 | K>E | No |
ClinGen gnomAD |
|
| TCGA novel | 110 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9804279 rs777734852 |
110 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA9804280 rs746872950 |
111 | N>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1401866388 CA408535337 |
113 | M>K | No |
ClinGen TOPMed gnomAD |
|
|
CA9804283 rs770505971 CA9804281 |
113 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408535338 rs1401866388 |
113 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
rs770505971 CA9804282 |
113 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1278947782 CA408535402 |
116 | N>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1330635393 CA408535414 |
117 | L>V | No |
ClinGen gnomAD |
|
|
rs201616223 COSM184918 CA9804285 |
119 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA9804284 rs201640836 |
119 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs371713985 CA408535481 |
121 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9804289 rs202200190 |
121 | R>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs202200190 CA9804288 |
121 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs371713985 CA9804287 |
121 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1568790694 CA408535510 |
123 | Q>E | No |
ClinGen Ensembl |
|
|
CA9804290 rs766481757 |
123 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9804291 rs753855660 |
124 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs753855660 CA408535532 |
124 | L>R | No |
ClinGen ExAC gnomAD |
|
|
CA408535542 rs1330124280 |
125 | E>* | No |
ClinGen gnomAD |
|
|
rs759811322 CA9804292 COSM1615441 COSM3707680 |
126 | R>C | liver [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA9804293 rs559511299 |
126 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408535596 rs1568790807 |
128 | A>V | No |
ClinGen Ensembl |
|
|
CA313872950 rs376871196 |
129 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs1478198845 CA408535621 |
130 | K>R | No |
ClinGen gnomAD |
|
|
CA9804295 rs758190457 |
133 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs777391555 CA9804296 |
134 | A>P | No |
ClinGen ExAC gnomAD |
|
|
rs751520896 CA9804297 |
135 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA9804298 rs757086697 |
136 | C>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408535687 rs1385228445 |
136 | C>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs780908850 CA9804299 |
138 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs1239816243 CA408535711 |
139 | F>S | No |
ClinGen TOPMed gnomAD |
|
|
rs535909730 CA9804303 |
143 | F>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA9804304 rs772514353 |
145 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773378300 CA9804305 |
146 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA9804307 rs761255147 |
147 | C>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA313873033 rs932466072 |
147 | C>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1282338834 CA408535857 |
147 | C>S | No |
ClinGen gnomAD |
|
|
CA408535864 rs761255147 |
147 | C>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776756851 CA9804308 |
148 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA408535916 rs1468882447 |
149 | Y>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1236423566 CA408535905 |
149 | Y>C | No |
ClinGen TOPMed |
|
|
rs1177975181 CA408535926 |
150 | H>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs765491899 CA9804310 |
157 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs368404184 CA9804311 COSM1410984 |
157 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs368404184 CA408536067 |
157 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs763019971 CA9804312 |
159 | N>I | No |
ClinGen ExAC gnomAD |
|
|
rs372511123 CA9804313 |
159 | N>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1339874619 CA408536103 |
160 | P>Q | No |
ClinGen TOPMed |
|
|
rs751300873 CA9804314 |
161 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1681591 CA408536121 rs1446659938 |
162 | I>F | breast [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
CA408536120 rs1446659938 |
162 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA408536150 rs1444180531 |
164 | W>C | No |
ClinGen gnomAD |
|
|
CA408536170 rs1379562974 |
166 | M>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1450392588 CA408536183 |
166 | M>R | No |
ClinGen TOPMed |
|
| TCGA novel | 166 | M>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA408536173 rs1379562974 |
166 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
rs377208508 CA408536216 |
167 | K>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA408536222 rs1307185711 |
168 | P>A | No |
ClinGen gnomAD |
|
|
rs1183806381 CA408537861 |
170 | A>D | No |
ClinGen gnomAD |
|
|
rs1482181997 CA408537859 |
170 | A>T | No |
ClinGen gnomAD |
|
|
rs763295167 CA408537876 |
171 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763295167 CA9804330 |
171 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9804329 rs775374800 |
171 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs372921246 CA9804331 |
173 | Q>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1410984611 CA408537912 |
174 | G>E | No |
ClinGen gnomAD |
|
|
CA9804332 rs774245539 |
174 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 176 | G>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM3785368 rs200968357 CA9804333 |
176 | G>D | pancreas [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
CA9804335 rs200319476 |
178 | F>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA408537983 rs1334223892 |
178 | F>L | No |
ClinGen TOPMed |
|
|
CA9804336 rs183197517 |
181 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1375690327 CA408538025 |
181 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs183197517 CA408538019 |
181 | R>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs753272197 CA9804338 |
183 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 185 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA313881359 rs1020889336 |
186 | I>V | No |
ClinGen Ensembl |
|
|
CA408538112 rs531929858 |
187 | V>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs531929858 CA9804340 COSM395873 |
187 | V>M | lung [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
rs201987763 CA9804361 |
193 | T>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs201987763 CA9804362 |
193 | T>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs757988604 CA9804363 |
195 | S>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9804364 rs757988604 |
195 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9804365 rs192604547 |
196 | S>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs749750682 CA9804369 |
197 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756652435 CA9804366 |
197 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs756652435 CA9804367 |
197 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
rs376428616 COSM184921 CA9804370 |
198 | D>N | large_intestine [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs759726231 CA9804372 |
199 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1326559026 CA408539434 |
203 | I>M | No |
ClinGen gnomAD |
|
|
rs902030884 CA313883550 |
204 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1600600307 CA408539454 |
205 | V>A | No |
ClinGen Ensembl |
|
|
CA9804376 rs770951589 |
205 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9804375 rs770951589 |
205 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA408539462 rs1351697390 COSM1681593 |
206 | E>K | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA313883555 rs776075122 |
208 | Y>C | No |
ClinGen gnomAD |
|
|
rs763316802 CA313883562 |
211 | Q>* | No |
ClinGen Ensembl |
|
|
rs865904190 CA313883567 |
212 | R>C | No |
ClinGen gnomAD |
|
|
COSM1641317 rs376250863 CA9804378 |
212 | R>H | Variant assessed as Somatic; 0.0 impact. stomach [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs188438889 CA9804380 |
214 | I>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA408539596 rs1180917946 |
214 | I>M | No |
ClinGen gnomAD |
|
|
CA408539588 rs1456671554 |
214 | I>T | No |
ClinGen gnomAD |
|
|
CA9804381 rs763703348 |
216 | N>Y | No |
ClinGen ExAC gnomAD |
|
|
CA408539671 rs1470328282 |
218 | Y>H | No |
ClinGen gnomAD |
|
|
rs750833283 CA9804382 |
220 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 220 | I>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9804383 rs756453983 |
222 | G>C | No |
ClinGen ExAC gnomAD |
|
|
CA9804398 rs763544218 COSM3770756 |
223 | R>C | pancreas [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA9804399 rs774020489 |
223 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA408540141 rs774020489 |
223 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 224 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs930681306 CA313884888 |
225 | F>C | No |
ClinGen TOPMed |
|
|
rs761459303 CA408540271 |
227 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761459303 CA9804400 |
227 | L>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201962845 CA9804401 |
228 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9804403 rs182039160 |
228 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA313884902 rs182039160 |
228 | R>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs201962845 CA9804402 |
228 | R>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs765811275 CA408540302 |
229 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9804404 rs765811275 |
229 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9804405 rs752875483 |
231 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9804406 rs758575451 |
233 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758575451 CA408540399 |
233 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408540423 rs1480485221 |
234 | M>L | No |
ClinGen TOPMed |
|
|
CA9804407 rs777962138 |
235 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408540445 rs1250011750 |
235 | S>T | No |
ClinGen TOPMed |
|
|
CA408541931 rs1255743451 |
236 | V>M | No |
ClinGen gnomAD |
|
|
CA9804454 rs754952211 |
242 | L>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9804455 rs778926293 |
243 | W>C | No |
ClinGen ExAC gnomAD |
|
|
CA408541993 rs1236361620 |
245 | G>E | No |
ClinGen Ensembl |
|
|
rs747989303 CA9804456 |
248 | R>K | No |
ClinGen ExAC gnomAD |
|
|
rs1462881285 CA408542017 |
249 | Q>* | No |
ClinGen gnomAD |
|
|
rs201285606 CA408542021 |
249 | Q>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9804457 rs771644498 |
249 | Q>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA313885836 rs771644498 |
249 | Q>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1401469587 CA408542721 |
254 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
CA313890439 rs951467915 |
255 | N>H | No |
ClinGen Ensembl |
|
|
CA313890441 rs916014215 |
256 | V>M | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 258 | V>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9804482 rs748742515 |
261 | T>I | No |
ClinGen ExAC gnomAD |
|
| rs1244292754 | 261 | T>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs772450485 CA408542781 |
263 | P>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772450485 CA9804483 |
263 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs375480533 CA9804485 |
264 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA408542797 rs1600622449 |
266 | H>N | No |
ClinGen Ensembl |
|
|
rs1473155223 CA408542803 |
266 | H>Q | No |
ClinGen TOPMed |
|
|
CA9804486 rs766400251 |
267 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA9804487 rs776873638 |
268 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA408542823 rs1399564213 |
269 | K>N | No |
ClinGen gnomAD |
|
|
CA9804539 rs757802573 |
271 | C>G | No |
ClinGen ExAC gnomAD |
|
|
rs1321990041 CA408543479 |
273 | W>* | No |
ClinGen TOPMed |
|
|
rs200691468 CA9804540 |
274 | T>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs780122956 CA9804543 |
276 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA9804544 rs369485862 |
277 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA9804545 rs369485862 |
277 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9804546 rs373712171 |
277 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
COSM2155700 CA9804548 rs771947364 |
279 | R>Q | central_nervous_system [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA9804547 rs761675329 |
279 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1319565756 CA408543613 |
281 | Y>* | No |
ClinGen gnomAD |
|
|
CA9804551 rs773056812 |
283 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9804550 rs773056812 |
283 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA408543676 rs1233559934 |
286 | H>R | No |
ClinGen gnomAD |
|
|
rs370215211 CA9804553 |
286 | H>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA408543693 rs1206753138 |
287 | G>E | No |
ClinGen gnomAD |
|
|
rs764840405 CA9804555 |
287 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA9804558 rs767801097 |
289 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA9804557 rs757649275 |
289 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA313890976 rs758744775 |
293 | T>P | No |
ClinGen TOPMed |
|
|
rs1181382704 CA408543802 |
295 | F>L | No |
ClinGen gnomAD |
|
|
CA408543823 rs1331758835 |
296 | R>K | No |
ClinGen TOPMed |
|
|
CA9804560 rs377406162 |
298 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9804563 rs370540188 |
299 | D>H | No |
ClinGen ESP ExAC TOPMed |
|
|
CA9804562 rs370540188 |
299 | D>N | Variant assessed as Somatic; 4.638e-05 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed |
|
CA9804564 rs779297848 |
300 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs1394461399 CA408543937 |
303 | V>I | No |
ClinGen gnomAD |
|
|
CA313890998 rs566844956 |
305 | S>N | No |
ClinGen 1000Genomes |
|
|
rs1328298096 CA408543991 |
306 | L>P | No |
ClinGen gnomAD |
|
|
CA408544014 rs1395698573 |
308 | S>C | No |
ClinGen TOPMed gnomAD |
|
|
CA9804567 rs772000244 |
309 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs773006116 CA408544050 |
313 | I>F | No |
ClinGen ExAC gnomAD |
|
|
CA9804568 rs773006116 |
313 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs201317647 CA9804570 |
321 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201317647 CA9804569 |
321 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1203491057 CA408544113 |
321 | E>V | No |
ClinGen TOPMed |
|
|
CA9804572 rs377592631 |
324 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9804575 rs775127551 |
325 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9804574 rs775127551 |
325 | Y>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1449698571 CA408544151 |
327 | I>V | No |
ClinGen TOPMed |
|
|
rs750794913 CA9804578 |
329 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9804579 rs766884478 |
330 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754344935 CA408544234 |
332 | D>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408544244 rs1404750356 |
332 | D>E | No |
ClinGen TOPMed |
|
|
rs754344935 CA9804580 |
332 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408544253 rs1418942882 |
333 | L>H | No |
ClinGen gnomAD |
|
|
rs779071308 CA9804582 |
335 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779071308 CA313891044 |
335 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs368625623 CA9804603 |
337 | L>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA408544480 rs1309053602 |
340 | V>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA9804605 rs778034400 |
341 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA9804607 rs371526790 |
342 | A>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs371526790 COSM1230854 CA9804606 |
342 | A>V | large_intestine [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs1485803048 CA408544546 |
345 | S>P | No |
ClinGen gnomAD |
|
|
CA313892225 rs868517058 |
348 | A>T | No |
ClinGen TOPMed |
|
|
rs745861429 CA9804609 |
348 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9804611 rs549726374 |
352 | E>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA313892227 rs267605876 |
352 | E>K | No |
ClinGen Ensembl |
|
|
CA313892234 rs371522271 |
353 | D>N | No |
ClinGen Ensembl |
|
|
CA408544671 rs1213348587 |
354 | Y>* | No |
ClinGen TOPMed |
|
|
CA9804613 rs767997531 |
358 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9804614 rs182501395 |
360 | L>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs761308678 CA9804616 |
364 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA408544803 rs538754070 |
364 | T>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9804617 rs538754070 |
364 | T>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9804618 rs538754070 |
364 | T>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA408544812 rs1600629505 |
365 | L>P | No |
ClinGen Ensembl |
|
|
rs1363811493 CA408544825 |
366 | H>L | No |
ClinGen gnomAD |
|
|
CA408544816 rs1305735001 COSM1307257 |
366 | H>N | Variant assessed as Somatic; impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
rs199514528 CA9804619 |
367 | V>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1435614475 CA408544831 |
367 | V>I | No |
ClinGen gnomAD |
|
|
CA313892271 rs926976028 |
370 | M>I | No |
ClinGen Ensembl |
|
| rs989875686 | 372 | A>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9804620 rs371431303 |
372 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1279357257 CA408544914 |
373 | R>T | No |
ClinGen gnomAD |
|
|
rs776174245 CA9804639 |
375 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1229297340 CA408546052 |
375 | T>P | No |
ClinGen gnomAD |
|
|
CA9804640 rs763304533 |
377 | R>K | No |
ClinGen ExAC gnomAD |
|
|
rs1202028775 CA408546087 |
378 | E>* | No |
ClinGen gnomAD |
|
|
CA9804641 rs199980451 |
380 | R>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs774289542 CA9804642 COSM1025634 |
380 | R>Q | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs750590615 CA9804645 |
382 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs767704747 CA9804644 |
382 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1163585628 CA408546149 |
383 | G>A | No |
ClinGen gnomAD |
|
|
CA408546145 rs1397897016 |
383 | G>S | No |
ClinGen TOPMed |
|
|
CA313893143 rs900564955 |
385 | D>Y | No |
ClinGen TOPMed |
|
|
CA408546186 rs1331000368 |
386 | L>F | No |
ClinGen TOPMed |
|
|
CA9804648 rs371973004 |
387 | M>K | No |
ClinGen ESP ExAC gnomAD |
|
|
CA313893149 rs563482354 |
387 | M>L | No |
ClinGen TOPMed gnomAD |
|
|
CA9804649 rs371973004 |
387 | M>T | No |
ClinGen ESP ExAC gnomAD |
|
|
CA408546232 rs202145784 |
389 | N>I | No |
ClinGen TOPMed |
|
|
CA313893195 rs202145784 |
389 | N>S | No |
ClinGen TOPMed |
|
|
rs200854952 CA9804650 |
390 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9804651 rs747584455 |
391 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs1243377237 CA408546291 |
394 | S>N | No |
ClinGen TOPMed |
|
| TCGA novel | 396 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs116660552 CA9804654 |
398 | G>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9804653 rs777592219 |
398 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs775701861 CA408546359 |
399 | A>D | No |
ClinGen ExAC TOPMed |
|
|
rs775701861 CA9804656 |
399 | A>G | No |
ClinGen ExAC TOPMed |
|
|
rs770289629 CA9804655 |
399 | A>P | No |
ClinGen ExAC gnomAD |
|
|
CA408546365 rs1276413549 |
400 | P>T | No |
ClinGen gnomAD |
|
|
rs749872457 CA9804657 |
401 | D>A | No |
ClinGen ExAC gnomAD |
|
|
CA408546380 rs1259772653 |
401 | D>E | No |
ClinGen TOPMed |
|
|
rs143699297 CA9804659 |
403 | S>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA408546412 rs1241236383 |
404 | G>E | No |
ClinGen gnomAD |
|
|
CA408546404 rs1188181549 |
404 | G>R | No |
ClinGen gnomAD |
|
|
rs1391998981 CA408546415 |
405 | M>V | No |
ClinGen gnomAD |
|
|
rs767541529 CA9804661 |
408 | F>S | No |
ClinGen ExAC gnomAD |
|
|
CA408546468 rs1282403105 |
408 | F>V | No |
ClinGen TOPMed |
|
|
CA9804662 rs368756223 |
410 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs760827254 CA9804664 |
411 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA408546578 rs1415482713 |
413 | H>R | No |
ClinGen gnomAD |
|
|
CA9804666 rs753573417 |
414 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9804669 rs752631136 |
415 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9804688 rs763761297 COSM1410990 |
416 | C>S | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA9804689 COSM4164665 rs568245486 |
417 | V>I | kidney [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
CA408532663 rs1268461202 |
419 | D>G | No |
ClinGen gnomAD |
|
|
rs867356805 CA408532656 |
419 | D>H | No |
ClinGen TOPMed |
|
|
CA313853251 rs867356805 |
419 | D>N | No |
ClinGen TOPMed |
|
|
rs186067627 CA9804692 |
420 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9804691 rs780729556 COSM1242959 |
420 | R>W | oesophagus [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA9804693 rs755298072 |
422 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA313853252 rs956630707 |
423 | Q>* | No |
ClinGen TOPMed |
|
|
rs1362161566 CA408532736 |
424 | L>P | No |
ClinGen gnomAD |
|
|
CA9804695 rs748709933 |
426 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA408532798 rs772566039 |
429 | C>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9804696 rs772566039 |
429 | C>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201169680 CA9804697 |
430 | S>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9804698 rs747072504 |
430 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs1387024341 CA408532823 |
431 | L>V | No |
ClinGen gnomAD |
|
|
rs770998381 CA9804700 |
432 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA408532865 rs1411507249 |
434 | Q>E | No |
ClinGen gnomAD |
|
|
CA9804701 rs191925826 |
436 | K>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA9804702 rs373854935 |
440 | S>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
No associated diseases with Q3SXZ7
No regional properties for Q3SXZ7
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| No domain, repeats, and functional sites for Q3SXZ7 | |||
5 GO annotations of cellular component
| Name | Definition |
|---|---|
| ciliary basal body | A membrane-tethered, short cylindrical array of microtubules and associated proteins found at the base of a eukaryotic cilium (also called flagellum) that is similar in structure to a centriole and derives from it. The cilium basal body is the site of assembly and remodelling of the cilium and serves as a nucleation site for axoneme growth. As well as anchoring the cilium, it is thought to provide a selective gateway regulating the entry of ciliary proteins and vesicles by intraflagellar transport. |
| cilium | A specialized eukaryotic organelle that consists of a filiform extrusion of the cell surface and of some cytoplasmic parts. Each cilium is largely bounded by an extrusion of the cytoplasmic (plasma) membrane, and contains a regular longitudinal array of microtubules, anchored to a basal body. |
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| microtubule | Any of the long, generally straight, hollow tubes of internal diameter 12-15 nm and external diameter 24 nm found in a wide variety of eukaryotic cells; each consists (usually) of 13 protofilaments of polymeric tubulin, staggered in such a manner that the tubulin monomers are arranged in a helical pattern on the microtubular surface, and with the alpha/beta axes of the tubulin subunits parallel to the long axis of the tubule; exist in equilibrium with pool of tubulin monomers and can be rapidly assembled or disassembled in response to physiological stimuli; concerned with force generation, e.g. in the spindle. |
| motile cilium | A cilium which may have a variable arrangement of axonemal microtubules and also contains molecular motors. It may beat with a whip-like pattern that promotes cell motility or transport of fluids and other cells across a cell surface, such as on epithelial cells that line the lumenal ducts of various tissues; or they may display a distinct twirling motion that directs fluid flow asymmetrically across the cellular surface to affect asymmetric body plan organization. Motile cilia can be found in single as well as multiple copies per cell. |
4 GO annotations of molecular function
| Name | Definition |
|---|---|
| ATP binding | Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator. |
| metal ion binding | Binding to a metal ion. |
| tubulin binding | Binding to monomeric or multimeric forms of tubulin, including microtubules. |
| tubulin-glutamic acid ligase activity | Catalysis of the posttranslational transfer of one or more glutamate residues to the gamma-carboxyl group(s) of one or more specific glutamate residues on a tubulin molecule. |
3 GO annotations of biological process
| Name | Definition |
|---|---|
| flagellated sperm motility | The directed, self-propelled movement of a cilium (aka flagellum) that contributes to the movement of a flagellated sperm. |
| microtubule cytoskeleton organization | A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of cytoskeletal structures comprising microtubules and their associated proteins. |
| protein polyglutamylation | The addition of one or more alpha-linked glutamyl units to the gamma carboxyl group of peptidyl-glutamic acid. |
5 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q3SZH6 | TTLL9 | Probable tubulin polyglutamylase TTLL9 | Bos taurus (Bovine) | PR |
| Q9BWV7 | TTLL2 | Probable tubulin polyglutamylase TTLL2 | Homo sapiens (Human) | PR |
| Q14679 | TTLL4 | Tubulin monoglutamylase TTLL4 | Homo sapiens (Human) | PR |
| Q6ZT98 | TTLL7 | Tubulin polyglutamylase TTLL7 | Homo sapiens (Human) | PR |
| A2APC3 | Ttll9 | Probable tubulin polyglutamylase TTLL9 | Mus musculus (Mouse) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MVPSREALLG | PGTTAIRCPK | KLQNQNYKGH | GLSKGKEREQ | RASIRFKTTL | MNTLMDVLRH |
| 70 | 80 | 90 | 100 | 110 | 120 |
| RPGWVEVKDE | GEWDFYWCDV | SWLRENFDHT | YMDEHVRISH | FRNHYELTRK | NYMVKNLKRF |
| 130 | 140 | 150 | 160 | 170 | 180 |
| RKQLEREAGK | LEAAKCDFFP | KTFEMPCEYH | LFVEEFRKNP | GITWIMKPVA | RSQGKGIFLF |
| 190 | 200 | 210 | 220 | 230 | 240 |
| RRLKDIVDWR | KDTRSSDDQK | DDIPVENYVA | QRYIENPYLI | GGRKFDLRVY | VLVMSVFAEC |
| 250 | 260 | 270 | 280 | 290 | 300 |
| LLWSGHRRQD | VHLTNVAVQK | TSPDYHPKKG | CKWTLQRFRQ | YLASKHGPEA | VETLFRDIDN |
| 310 | 320 | 330 | 340 | 350 | 360 |
| IFVKSLQSVQ | KVIISDKHCF | ELYGYDILID | QDLKPWLLEV | NASPSLTASS | QEDYELKTCL |
| 370 | 380 | 390 | 400 | 410 | 420 |
| LEDTLHVVDM | EARLTGREKR | VGGFDLMWND | GPVSREEGAP | DLSGMGNFVT | NTHLGCVNDR |
| 430 | |||||
| KKQLRQLFCS | LQVQKKASS |