O14576
Gene name |
DYNC1I1 (DNCI1, DNCIC1) |
Protein name |
Cytoplasmic dynein 1 intermediate chain 1 |
Names |
Cytoplasmic dynein intermediate chain 1, Dynein intermediate chain 1, cytosolic, DH IC-1 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:1780 |
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 O14576
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-O14576-F1 | Predicted | AlphaFoldDB |
444 variants for O14576
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA4352086 rs749605007 |
4 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs1315133724 CA368403337 |
10 | E>G | No |
ClinGen gnomAD |
|
| TCGA novel | 12 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1237310197 CA368403356 |
13 | R>C | No |
ClinGen gnomAD |
|
|
CA163471970 rs868588293 |
13 | R>H | No |
ClinGen gnomAD |
|
| TCGA novel | 13 | R>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA368403363 rs1180374856 |
14 | K>R | No |
ClinGen gnomAD |
|
|
rs760252944 CA4352092 |
17 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
COSM198761 rs1378425188 CA368403385 |
17 | R>H | large_intestine [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
rs763887544 CA4352093 |
20 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA368403403 rs1399566810 |
20 | Q>K | No |
ClinGen gnomAD |
|
|
rs1464211700 CA368403413 |
21 | I>M | No |
ClinGen gnomAD |
|
|
rs753702370 CA4352094 |
21 | I>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 25 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA163472033 rs62639694 |
26 | K>N | No |
ClinGen Ensembl |
|
|
CA4352096 rs555557277 |
27 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
rs756972511 CA4352095 |
27 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1562899885 CA368403458 |
28 | K>M | No |
ClinGen Ensembl |
|
| TCGA novel | 31 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1317706919 CA368403480 |
31 | E>Q | No |
ClinGen gnomAD |
|
|
CA163472043 rs976343566 |
34 | K>M | No |
ClinGen TOPMed |
|
|
CA4352097 rs750279713 |
35 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA4352116 rs200845264 |
37 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4352117 rs752893858 |
39 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs1391281994 CA368403554 |
39 | M>R | No |
ClinGen TOPMed |
|
|
CA368403562 rs1470799926 |
40 | Q>R | No |
ClinGen gnomAD |
|
|
rs756229765 CA4352118 |
41 | Q>H | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 42 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs757671459 CA4352121 |
46 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA4352122 rs76250658 |
47 | Q>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA163474424 rs565417352 |
48 | D>N | No |
ClinGen 1000Genomes |
|
|
rs772623334 CA4352124 |
49 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA368403625 rs1346289011 |
49 | D>V | No |
ClinGen gnomAD |
|
|
COSM1755442 CA163474446 rs780509560 |
54 | R>C | large_intestine Variant assessed as Somatic; impact. urinary_tract [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA4352125 rs780509560 |
54 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs377495263 CA4352126 |
54 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1584243902 CA368403667 |
56 | R>* | No |
ClinGen Ensembl |
|
|
rs1435212532 CA368403669 |
56 | R>Q | No |
ClinGen gnomAD |
|
|
rs768106213 CA4352127 |
57 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA368403681 rs776377255 CA4352128 |
58 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1258717707 CA368403677 |
58 | E>Q | No |
ClinGen TOPMed |
|
|
rs1322212612 CA368403682 |
59 | T>P | No |
ClinGen TOPMed |
|
|
CA368403693 rs1357229076 |
60 | E>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1584243961 CA368403695 |
60 | E>D | No |
ClinGen Ensembl |
|
|
rs1357229076 CA368403691 |
60 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
CA368403688 rs1584243949 COSM602647 |
60 | E>K | lung [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
CA368403707 CA4352129 rs371217689 |
62 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
TCGA novel rs1584243987 CA368403710 |
63 | L>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA Ensembl |
|
CA368403744 rs1490713800 |
68 | I>V | No |
ClinGen gnomAD |
|
|
CA4352131 rs772941982 |
69 | S>* | No |
ClinGen ExAC |
|
|
CA368403749 rs1584243995 |
69 | S>P | No |
ClinGen Ensembl |
|
|
rs762840556 CA4352132 |
70 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA368403757 rs1290513664 |
70 | P>L | No |
ClinGen Ensembl |
|
|
CA4352133 rs762840556 |
70 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4352135 rs760856913 |
72 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA368403782 rs1287433659 |
75 | V>M | No |
ClinGen TOPMed |
|
|
RCV000905294 rs117676704 CA4352150 |
76 | Q>E | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA368402702 rs1209559922 |
76 | Q>R | No |
ClinGen gnomAD |
|
|
COSM198763 CA4352153 rs199740432 |
77 | P>L | large_intestine endometrium [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA368402708 rs199740432 |
77 | P>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4352152 rs759479007 |
77 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs761947806 CA4352155 |
78 | L>R | No |
ClinGen ExAC gnomAD |
|
|
CA368402716 rs1459297377 |
79 | H>Y | No |
ClinGen TOPMed |
|
| rs781167095 | 81 | L>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs781167095 | 81 | L>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs374055417 CA4352158 |
83 | W>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4352159 rs758793823 |
84 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4352160 rs780331670 |
85 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA4352162 rs755499651 |
87 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4352163 rs781721654 |
91 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1584246436 CA368402821 |
94 | T>P | No |
ClinGen Ensembl |
|
|
rs1307153884 CA368402825 |
94 | T>S | No |
ClinGen TOPMed |
|
|
CA4352164 rs747655707 CA368402839 |
96 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA163484765 rs200318990 |
96 | M>V | No |
ClinGen Ensembl |
|
|
rs990703133 CA163484766 |
97 | S>C | No |
ClinGen Ensembl |
|
|
COSM3412516 CA4352166 rs532833915 |
100 | S>L | central_nervous_system [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC gnomAD |
|
CA4352169 rs367583220 |
101 | K>R | No |
ClinGen ESP ExAC |
|
|
rs1319877361 CA368402895 |
106 | P>T | No |
ClinGen gnomAD |
|
|
CA368402917 rs1404153382 |
109 | A>T | No |
ClinGen TOPMed |
|
|
CA4352170 rs745644201 |
110 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771968569 CA4352171 |
113 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA368402944 rs1465516789 |
113 | D>N | No |
ClinGen TOPMed |
|
| TCGA novel | 114 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 114 | S>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs765322548 CA4352175 |
116 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs765322548 CA4352174 |
116 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
CA368402982 rs1161558300 |
119 | P>A | No |
ClinGen gnomAD |
|
|
rs999992062 CA163486208 |
124 | L>P | No |
ClinGen Ensembl |
|
|
rs750054458 CA4352223 |
128 | T>P | No |
ClinGen ExAC gnomAD |
|
|
CA4352224 rs758134937 |
134 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs1289154946 CA368403183 |
134 | Q>R | No |
ClinGen gnomAD |
|
|
rs1584258028 CA368403203 |
137 | S>L | No |
ClinGen Ensembl |
|
| TCGA novel | 140 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1361679659 | 141 | L>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA368403829 rs1291931443 |
147 | K>E | No |
ClinGen TOPMed |
|
|
rs1449377026 CA368403845 |
149 | G>D | No |
ClinGen gnomAD |
|
|
rs201114371 CA4352243 COSM2150542 |
150 | V>M | Variant assessed as Somatic; 0.0 impact. central_nervous_system breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA4352244 rs146559643 |
152 | K>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA368403861 rs1219432726 |
152 | K>M | No |
ClinGen TOPMed |
|
| TCGA novel | 154 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1276630315 CA368403870 |
154 | T>S | No |
ClinGen TOPMed |
|
|
CA368403883 rs3757697 |
155 | Q>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA368403889 rs1221956307 |
156 | V>A | No |
ClinGen gnomAD |
|
|
CA368403890 rs1312627921 |
157 | D>N | No |
ClinGen gnomAD |
|
|
CA4352247 rs142483580 |
158 | F>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs267601651 CA368403903 |
158 | F>L | No |
ClinGen Ensembl |
|
|
rs1018082393 CA163490430 |
162 | E>V | No |
ClinGen TOPMed gnomAD |
|
|
rs755268981 CA163490431 |
163 | V>E | No |
ClinGen TOPMed gnomAD |
|
|
rs755268981 CA368403934 |
163 | V>G | No |
ClinGen TOPMed gnomAD |
|
|
CA368403931 rs1480000088 |
163 | V>L | No |
ClinGen gnomAD |
|
|
CA368403956 rs1389339925 |
167 | S>P | No |
ClinGen TOPMed |
|
|
CA368403963 rs1478565664 |
168 | K>Q | No |
ClinGen TOPMed |
|
|
CA368403969 rs1253400339 |
169 | E>K | No |
ClinGen gnomAD |
|
| TCGA novel | 171 | Q>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA368404004 rs1479241308 |
174 | L>V | No |
ClinGen gnomAD |
|
|
CA368404010 rs1175334333 |
175 | A>T | No |
ClinGen gnomAD |
|
|
rs748035438 CA4352248 |
176 | T>A | No |
ClinGen ExAC |
|
|
CA4352249 rs369627655 COSM1313450 |
176 | T>M | Variant assessed as Somatic; 4.624e-05 impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs775544140 CA4352253 |
177 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772404533 CA4352252 |
177 | H>Y | Variant assessed as Somatic; 4.625e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA368404036 rs1441516909 |
179 | S>F | No |
ClinGen gnomAD |
|
|
rs762550680 CA4352280 |
182 | D>V | No |
ClinGen ExAC gnomAD |
|
|
rs1584218755 CA368404102 |
186 | E>K | No |
ClinGen Ensembl |
|
|
CA368404123 rs1449248287 |
188 | M>I | No |
ClinGen gnomAD |
|
|
rs765771171 CA4352281 |
188 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA4352282 rs370031174 |
190 | E>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 191 | S>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1392594191 CA368404157 |
193 | V>A | No |
ClinGen gnomAD |
|
|
rs1562961395 CA368404153 |
193 | V>I | No |
ClinGen Ensembl |
|
|
CA4352283 rs202183816 |
194 | G>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs202183816 CA4352284 |
194 | G>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
RCV000882688 CA4352286 rs35314029 |
199 | L>M | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA368404201 rs1407285773 |
200 | E>G | No |
ClinGen gnomAD |
|
|
CA368404219 rs1435554854 |
202 | Q>H | No |
ClinGen gnomAD |
|
|
rs1316589653 CA368404213 |
202 | Q>K | No |
ClinGen gnomAD |
|
|
CA4352287 rs141450323 |
202 | Q>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA163501822 rs753670141 |
203 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA368404220 rs1322402297 |
203 | D>N | No |
ClinGen gnomAD |
|
| TCGA novel | 205 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs190596245 COSM1580841 CA4352289 |
205 | K>R | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
CA368404242 rs1183836707 |
206 | Q>K | No |
ClinGen gnomAD |
|
| TCGA novel | 206 | Q>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs779940439 CA368404256 CA4352290 |
207 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 209 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs761715318 CA4352309 |
212 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA368404306 rs1303656370 |
213 | P>L | No |
ClinGen TOPMed |
|
|
CA163502573 rs61750840 |
221 | K>N | No |
ClinGen Ensembl |
|
|
rs755089840 CA368404367 |
222 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755089840 CA4352312 |
222 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4352313 rs781589500 |
222 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA368404376 rs1161721009 |
223 | Q>R | No |
ClinGen gnomAD |
|
|
CA4352315 rs756508694 |
224 | I>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4352314 rs752932291 |
224 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs17853120 CA163502574 |
225 | L>I | No |
ClinGen gnomAD |
|
|
CA163502575 rs17854816 |
227 | S>L | No |
ClinGen Ensembl |
|
|
rs373488262 CA4352316 |
227 | S>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 228 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4352319 rs771404853 |
233 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs779358338 CA4352320 |
233 | F>S | No |
ClinGen ExAC |
|
|
CA163502577 rs981208301 |
235 | D>N | No |
ClinGen TOPMed |
|
|
rs553629207 CA4352322 |
236 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA4352321 rs745430386 |
236 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4352325 rs573158000 |
239 | R>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA4352324 rs573158000 |
239 | R>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
COSM485768 CA4352323 rs775154382 |
239 | R>W | kidney Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs1233008032 CA368404488 |
241 | I>T | No |
ClinGen gnomAD |
|
|
rs967856152 CA163502581 |
246 | A>T | No |
ClinGen TOPMed |
|
|
rs776357212 CA4352326 |
247 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA368404533 rs1273990745 |
248 | D>G | No |
ClinGen gnomAD |
|
|
CA368404543 rs750340243 |
250 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4352329 COSM236092 rs750340243 |
250 | D>N | autonomic_ganglia [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs759723321 CA4352330 |
251 | I>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 254 | D>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs767642269 CA4352331 |
256 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA163502583 rs867342892 |
257 | G>D | No |
ClinGen Ensembl |
|
|
rs187401312 CA163502582 |
257 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes NCI-TCGA TOPMed |
|
CA368404600 rs1379204269 |
258 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs756345512 CA4352333 |
258 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756345512 CA368404601 |
258 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756345512 CA4352334 |
258 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs139485962 CA368404608 |
259 | E>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA163502585 rs139501133 |
261 | E>D | No |
ClinGen ESP TOPMed |
|
|
CA163502586 rs1049129897 |
263 | K>E | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 264 | D>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 265 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs754041257 CA4352353 |
267 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754041257 CA4352354 |
267 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767955809 CA4352355 |
269 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767955809 CA4352356 |
269 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758971443 CA4352357 |
270 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA163502820 rs946567842 |
271 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
CA368404702 rs1413621238 |
272 | N>S | No |
ClinGen TOPMed |
|
|
CA368404700 rs1248451014 |
272 | N>Y | No |
ClinGen gnomAD |
|
|
rs1207673826 CA368404720 |
275 | F>V | No |
ClinGen gnomAD |
|
|
CA368404726 rs1466178962 |
276 | N>H | No |
ClinGen gnomAD |
|
|
CA4352358 rs780509369 |
276 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA163502821 rs905324043 |
277 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA368404735 COSM3412517 rs1423892270 |
277 | R>H | Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA4352359 rs746551909 |
280 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA368404791 rs17856963 |
284 | W>* | No |
ClinGen TOPMed |
|
|
CA163502822 rs17856963 |
284 | W>C | No |
ClinGen TOPMed |
|
|
rs773523453 CA368404805 |
286 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1420279332 CA368404807 |
287 | H>N | No |
ClinGen TOPMed |
|
|
rs780741652 CA4352361 |
287 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA163502823 rs952756652 COSM1250832 |
288 | R>Q | oesophagus [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
CA368404821 rs1389913979 |
289 | V>E | No |
ClinGen gnomAD |
|
|
CA4352363 rs769728537 |
290 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs749086223 CA368404858 |
294 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1315054045 CA368404868 |
295 | W>C | No |
ClinGen gnomAD |
|
| TCGA novel | 298 | Q>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA368404905 rs1205359749 |
299 | Y>N | No |
ClinGen gnomAD |
|
|
rs761851293 CA4352388 |
302 | L>M | No |
ClinGen ExAC gnomAD |
|
|
rs113497451 CA163503806 |
302 | L>P | No |
ClinGen Ensembl |
|
|
CA368404943 rs1189815760 |
305 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1424963572 CA368404964 |
308 | N>D | No |
ClinGen gnomAD |
|
|
CA163503807 rs984073740 |
308 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
CA4352391 rs143419715 |
309 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs143419715 CA4352390 |
309 | N>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs766702267 CA4352392 |
310 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs1308814614 CA368404994 |
312 | D>G | No |
ClinGen gnomAD |
|
|
CA368405008 rs1434645342 |
314 | P>L | No |
ClinGen gnomAD |
|
|
rs760151211 CA4352394 |
314 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs1432681942 CA368405013 |
315 | H>P | No |
ClinGen TOPMed |
|
|
rs771966085 CA163503808 |
316 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs767909436 CA4352395 |
317 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA368405038 rs1294517026 |
319 | G>R | No |
ClinGen Ensembl |
|
|
rs147131803 CA4352396 |
320 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs755660076 CA4352397 |
323 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA4352398 rs777588095 |
325 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA368405084 rs1449496409 |
326 | M>V | No |
ClinGen gnomAD |
|
|
rs1274437633 CA368405096 |
327 | K>M | No |
ClinGen TOPMed |
|
| TCGA novel | 328 | F>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1246486867 CA368405125 |
331 | T>P | No |
ClinGen gnomAD |
|
|
CA368405154 rs1195987180 |
335 | Y>C | No |
ClinGen gnomAD |
|
|
CA4352403 rs148644569 |
336 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA368405158 rs148644569 |
336 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA163503809 rs922727922 |
337 | F>L | No |
ClinGen TOPMed |
|
|
rs532466715 CA163503810 |
338 | H>R | No |
ClinGen Ensembl |
|
| TCGA novel | 341 | S>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 343 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA368405226 rs750281458 |
344 | M>R | No |
ClinGen ExAC gnomAD |
|
|
rs750281458 CA4352425 |
344 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs1381436803 COSM1453045 CA368405235 |
345 | S>L | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
COSM3431907 CA4352429 rs756202767 |
349 | A>T | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA |
|
rs17853779 CA4352430 |
350 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs17853779 CA163507180 |
350 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM171431 CA4352431 rs376275541 |
350 | R>H | lung Variant assessed as Somatic; 0.0 impact. large_intestine [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs774410304 CA4352433 |
352 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4352434 rs746262928 |
353 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1207515046 CA368405313 |
358 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
rs772281540 CA368405328 |
360 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772281540 CA4352435 |
360 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA368405331 rs1328911448 |
361 | Y>H | No |
ClinGen gnomAD |
|
|
rs776143490 CA4352436 |
362 | S>* | No |
ClinGen ExAC gnomAD |
|
|
CA163507181 rs776143490 |
362 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs954536370 CA163507182 |
363 | G>D | No |
ClinGen Ensembl |
|
|
rs1440731310 CA368405353 CA368405354 |
364 | Q>H | No |
ClinGen gnomAD |
|
| TCGA novel | 366 | V>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs78731424 CA163507183 |
367 | L>I | No |
ClinGen Ensembl |
|
|
CA368405378 rs913296254 |
368 | W>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs913296254 CA163507184 |
368 | W>C | No |
ClinGen TOPMed gnomAD |
|
|
CA4352438 rs764683489 |
368 | W>L | No |
ClinGen ExAC gnomAD |
|
|
CA368405380 rs1476299974 |
369 | D>N | No |
ClinGen gnomAD |
|
|
CA368405398 rs1180379367 |
371 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
rs902089808 CA163507185 |
371 | R>S | No |
ClinGen TOPMed |
|
| VAR_064709 | 373 | H>L | found in a renal cell carcinoma case; somatic mutation [UniProt] | No | UniProt |
|
COSM2149518 CA4352439 rs776347302 |
374 | R>* | Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA4352440 rs761198234 |
375 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA4352441 rs764966313 |
376 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs372905393 CA4352442 |
376 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4352443 rs758219234 |
378 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA368405452 rs1356888200 |
380 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA368405462 rs1200744202 |
382 | P>A | No |
ClinGen gnomAD |
|
|
rs546629907 COSM169788 CA4352444 |
389 | T>M | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA gnomAD |
| TCGA novel | 391 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1275980376 CA368405535 |
391 | P>S | No |
ClinGen gnomAD |
|
|
CA4352458 rs761416597 |
392 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA4352459 rs764584111 |
393 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs772928673 CA4352460 |
394 | C>R | No |
ClinGen ExAC gnomAD |
|
|
rs375017615 CA4352461 |
398 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA368405598 rs1264919661 |
401 | Q>L | No |
ClinGen gnomAD |
|
|
rs751391959 CA4352463 |
412 | D>A | No |
ClinGen ExAC gnomAD |
|
|
CA4352464 rs754740631 |
413 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA368405725 rs777230119 |
419 | S>I | No |
ClinGen TOPMed |
|
|
rs777230119 CA163507618 |
419 | S>N | No |
ClinGen TOPMed |
|
|
rs1463192047 CA368405727 |
419 | S>R | No |
ClinGen gnomAD |
|
|
CA4352465 rs767469710 |
420 | L>M | No |
ClinGen ExAC gnomAD |
|
|
CA163507620 rs1022301551 |
422 | M>T | No |
ClinGen Ensembl |
|
|
CA4352466 rs752540598 |
422 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs368505837 CA4352467 |
425 | T>A | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA gnomAD |
|
CA368405799 rs1362691830 |
429 | S>G | No |
ClinGen gnomAD |
|
|
CA368405801 rs1384024941 |
429 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
rs763506880 CA4352483 |
430 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA163507912 rs759929869 |
431 | E>V | No |
ClinGen Ensembl |
|
|
CA368405833 rs1562980047 |
434 | Y>H | No |
ClinGen Ensembl |
|
|
CA368405841 rs1274805310 |
435 | N>D | No |
ClinGen gnomAD |
|
|
rs760589743 CA4352485 |
435 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs1268721723 CA368405865 |
438 | K>R | No |
ClinGen gnomAD |
|
|
rs1486540291 CA368405870 |
439 | P>A | No |
ClinGen gnomAD |
|
|
CA4352486 rs764090165 |
439 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs375862083 COSM1739411 CA4352489 |
441 | A>S | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA368405880 rs375862083 COSM3412518 |
441 | A>T | Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1189711732 CA368405886 |
442 | V>I | No |
ClinGen gnomAD |
|
|
rs781466179 CA4352492 |
444 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA4352491 rs755406657 |
444 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1562980117 CA368405902 |
445 | M>V | No |
ClinGen Ensembl |
|
| TCGA novel | 447 | F>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA368405929 rs1367770806 |
448 | P>L | No |
ClinGen TOPMed |
|
|
rs370220914 CA4352493 |
449 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1401669771 CA368405944 |
451 | D>G | No |
ClinGen gnomAD |
|
|
CA4352496 rs748814410 |
452 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
| TCGA novel | 454 | N>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 455 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA368405978 COSM3412519 rs1227595850 |
456 | V>M | Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs1584267392 CA368405987 |
457 | V>A | No |
ClinGen Ensembl |
|
|
CA4352498 rs774000073 |
457 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA368405989 rs1318636318 |
458 | G>S | No |
ClinGen gnomAD |
|
| TCGA novel | 461 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4352500 rs771744628 |
461 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs1212513692 CA368406021 |
462 | G>D | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 462 | G>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1212513692 CA368406023 |
462 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
CA4352501 rs775216924 |
466 | T>A | No |
ClinGen ExAC gnomAD |
|
|
COSM1568791 rs551953723 CA4352502 |
466 | T>M | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA368406065 rs1421390269 |
469 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA163508260 rs372507333 |
473 | K>R | No |
ClinGen Ensembl |
|
|
rs1274131777 CA368406115 |
474 | A>G | No |
ClinGen TOPMed |
|
|
rs1371612729 CA368406134 |
477 | G>A | No |
ClinGen gnomAD |
|
|
rs1371612729 CA368406133 |
477 | G>D | No |
ClinGen gnomAD |
|
|
rs549442524 CA4352521 |
478 | E>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA368406153 rs1294756578 |
480 | F>S | No |
ClinGen gnomAD |
|
|
rs761898077 CA4352523 |
482 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs765259750 CA4352524 |
489 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA4352525 rs746553009 |
490 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 493 | H>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA368406261 rs879159002 |
496 | V>L | No |
ClinGen gnomAD |
|
|
rs879159002 CA163508262 |
496 | V>M | No |
ClinGen gnomAD |
|
| TCGA novel | 497 | G>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs752919446 CA4352528 |
499 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA368406309 rs1295323167 |
503 | H>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1371490427 CA368406323 |
505 | F>C | No |
ClinGen TOPMed |
|
|
rs373873741 CA163508263 |
508 | S>A | No |
ClinGen ESP gnomAD |
|
|
rs1163790811 CA368406350 |
510 | F>L | No |
ClinGen gnomAD |
|
|
CA368406357 rs1327624477 |
511 | D>N | No |
ClinGen TOPMed |
|
|
CA368406368 rs1462884852 |
512 | W>* | No |
ClinGen gnomAD |
|
|
rs1562981587 CA368406373 |
512 | W>* | No |
ClinGen Ensembl |
|
|
CA368406380 rs1384837024 |
514 | V>I | No |
ClinGen TOPMed |
|
|
CA368406404 rs1318472263 |
517 | W>* | No |
ClinGen gnomAD |
|
|
rs17852086 CA163508265 |
517 | W>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA368406414 rs1388912172 |
519 | T>A | No |
ClinGen TOPMed |
|
| TCGA novel | 520 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1162879929 CA368406422 |
520 | K>T | No |
ClinGen TOPMed |
|
|
CA4352547 CA4352548 rs767571094 |
522 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA368252764 rs1350571649 |
529 | E>* | No |
ClinGen gnomAD |
|
|
rs1198886518 CA368252784 |
531 | N>K | No |
ClinGen TOPMed |
|
| TCGA novel | 532 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA368252813 rs1206307794 |
535 | V>A | No |
ClinGen gnomAD |
|
|
rs1033384038 CA162961985 |
536 | Y>C | No |
ClinGen TOPMed |
|
|
rs1243010339 CA368252827 |
537 | D>E | No |
ClinGen TOPMed |
|
|
CA4352551 rs754243136 |
538 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA162962000 rs977041050 |
539 | M>L | No |
ClinGen Ensembl |
|
|
rs762146134 CA4352552 |
539 | M>T | No |
ClinGen ExAC |
|
|
rs1258524344 CA368252855 |
541 | S>F | No |
ClinGen gnomAD |
|
| TCGA novel | 543 | V>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4352554 rs539055695 |
544 | H>Y | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs779672282 CA4352556 |
546 | A>E | No |
ClinGen ExAC gnomAD |
|
|
CA368252893 rs1422377802 |
548 | F>L | No |
ClinGen gnomAD |
|
|
CA4352558 rs754698837 |
552 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs780966201 CA4352559 |
555 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs747977134 CA4352560 |
556 | R>L | No |
ClinGen ExAC gnomAD |
|
|
CA368252974 rs1335550302 |
560 | W>R | No |
ClinGen gnomAD |
|
|
rs1281798913 CA368252997 |
563 | N>D | No |
ClinGen gnomAD |
|
|
rs1233615076 CA368253008 |
564 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1385103767 CA368253024 |
565 | D>E | No |
ClinGen TOPMed |
|
|
rs1281194431 CA368253014 |
565 | D>H | No |
ClinGen gnomAD |
|
|
rs141384275 CA4352586 |
569 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4352587 rs762080244 |
570 | T>A | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1437767268 CA368253646 |
570 | T>I | No |
ClinGen TOPMed |
|
|
rs1352149754 CA368253647 |
571 | A>T | No |
ClinGen TOPMed |
|
|
rs769999342 CA4352588 |
572 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4352590 rs763204109 |
574 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1392828428 CA368253668 |
574 | A>V | No |
ClinGen gnomAD |
|
|
rs1447944959 CA368253688 |
577 | G>E | No |
ClinGen TOPMed |
|
|
rs774678955 CA4352592 |
577 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA368253692 rs1373225662 |
578 | A>S | No |
ClinGen gnomAD |
|
|
CA4352593 rs759118062 |
579 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs1327227537 CA368253707 |
580 | A>V | No |
ClinGen gnomAD |
|
|
CA4352595 rs752245721 |
581 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA162965730 rs35077523 VAR_048905 |
582 | N>T | No |
ClinGen UniProt TOPMed dbSNP |
|
|
CA4352596 rs374032937 |
583 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4352597 rs763626464 COSM1250833 |
583 | R>H | oesophagus [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs753718608 CA4352598 |
584 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1463517537 CA368253730 |
585 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs201767152 CA4352600 |
585 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1429925406 CA368253762 |
590 | G>C | No |
ClinGen TOPMed gnomAD |
|
|
rs967652013 CA162965784 |
590 | G>D | No |
ClinGen Ensembl |
|
|
rs1429925406 CA368253764 |
590 | G>S | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 593 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1184971340 CA368253785 |
593 | V>F | No |
ClinGen gnomAD |
|
|
rs781314687 CA4352603 |
595 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781314687 CA368253798 |
595 | V>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4352602 rs755064520 |
595 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs748195049 CA4352604 |
598 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748195049 CA368253817 |
598 | S>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA368253834 rs1452319389 |
601 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA4352606 rs768899789 |
601 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA368253835 rs768899789 |
601 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749691258 CA4352608 |
603 | W>* | No |
ClinGen ExAC gnomAD |
|
|
CA4352609 rs774931974 |
603 | W>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749691258 CA4352607 |
603 | W>L | No |
ClinGen ExAC gnomAD |
|
|
CA368253862 rs1436474665 |
605 | Y>* | No |
ClinGen TOPMed |
|
|
rs1024293626 CA162965848 |
606 | D>N | No |
ClinGen TOPMed |
|
|
rs145694237 CA4352611 |
607 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1294951645 CA368253888 |
608 | G>R | No |
ClinGen gnomAD |
|
|
CA368255396 rs1171828336 |
610 | L>P | No |
ClinGen gnomAD |
|
|
CA4352631 rs746207445 |
611 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746207445 CA368255398 |
611 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA368255400 rs1435500272 |
611 | A>V | No |
ClinGen gnomAD |
|
|
rs772757314 CA4352633 |
613 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4352632 rs772757314 |
613 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA368255417 rs1461325929 |
614 | H>R | No |
ClinGen gnomAD |
|
| TCGA novel | 615 | N>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1298576123 CA368255426 |
615 | N>S | No |
ClinGen gnomAD |
|
| TCGA novel | 617 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1584319961 CA368255458 |
619 | T>S | No |
ClinGen Ensembl |
|
|
rs760294850 CA4352634 |
620 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4352635 rs767986943 |
620 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA368255466 rs1563004673 |
621 | F>Y | No |
ClinGen Ensembl |
|
|
rs1371107650 CA368255489 |
624 | T>I | No |
ClinGen gnomAD |
|
|
rs1371107650 CA368255487 |
624 | T>N | No |
ClinGen gnomAD |
|
|
rs761431417 CA4352637 |
625 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA368255507 rs1270483936 |
627 | E>D | No |
ClinGen gnomAD |
|
|
rs764911432 CA4352638 |
629 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA368255516 rs1306600806 |
629 | R>S | No |
ClinGen gnomAD |
|
|
CA368255537 rs1584320013 |
632 | R>K | No |
ClinGen Ensembl |
|
|
CA4352639 rs750268008 |
632 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs556401895 CA162979597 |
633 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
| TCGA novel | 637 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA368255575 rs1252391059 |
637 | E>V | No |
ClinGen gnomAD |
|
| TCGA novel | 638 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1193095487 CA368255591 |
639 | G>V | No |
ClinGen gnomAD |
|
|
rs756228685 CA4352643 |
640 | T>P | No |
ClinGen ExAC gnomAD |
|
|
CA4352644 rs777769221 |
642 | E>V | No |
ClinGen ExAC gnomAD |
|
|
CA368255618 rs1170868175 |
644 | S>P | No |
ClinGen gnomAD |
No associated diseases with O14576
1 regional properties for O14576
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Major facilitator superfamily domain | 86 - 513 | IPR020846 |
11 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| cytoplasmic dynein complex | Any dynein complex with a homodimeric dynein heavy chain core that catalyzes movement along a microtubule. Cytoplasmic dynein complexes participate in many cytoplasmic transport activities in eukaryotes, such as mRNA localization, intermediate filament transport, nuclear envelope breakdown, apoptosis, transport of centrosomal proteins, mitotic spindle assembly, virus transport, kinetochore functions, and movement of signaling and spindle checkpoint proteins. Some complexes participate in intraflagellar transport. Subunits associated with the dynein heavy chain mediate association between dynein heavy chain and cargoes, and may include light chains and light intermediate chains. |
| cytoplasmic ribonucleoprotein granule | A ribonucleoprotein granule located in the cytoplasm. |
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| kinetochore | A multisubunit complex that is located at the centromeric region of DNA and provides an attachment point for the spindle microtubules. |
| 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. |
| 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. |
| perinuclear region of cytoplasm | Cytoplasm situated near, or occurring around, the nucleus. |
| recycling endosome | An organelle consisting of a network of tubules that functions in targeting molecules, such as receptors transporters and lipids, to the plasma membrane. |
| spindle pole | Either of the ends of a spindle, where spindle microtubules are organized; usually contains a microtubule organizing center and accessory molecules, spindle microtubules and astral microtubules. |
| vesicle | Any small, fluid-filled, spherical organelle enclosed by membrane. |
6 GO annotations of molecular function
| Name | Definition |
|---|---|
| cytoskeletal motor activity | Generation of force resulting in movement, for example along a microfilament or microtubule, or in torque resulting in membrane scission or rotation of a flagellum. The energy required is obtained either from the hydrolysis of a nucleoside triphosphate or by an electrochemical proton gradient (proton-motive force). |
| dynein heavy chain binding | Binding to a heavy chain of the dynein complex. |
| dynein light chain binding | Binding to a light chain of the dynein complex. |
| microtubule binding | Binding to a microtubule, a filament composed of tubulin monomers. |
| microtubule motor activity | A motor activity that generates movement along a microtubule, driven by ATP hydrolysis. |
| spectrin binding | Binding to spectrin, a protein that is the major constituent of the erythrocyte cytoskeletal network. It associates with band 4.1 (see band protein) and actin to form the cytoskeletal superstructure of the erythrocyte plasma membrane. It is composed of nonhomologous chains, alpha and beta, which aggregate side-to-side in an antiparallel fashion to form dimers, tetramers, and higher polymers. |
3 GO annotations of biological process
| Name | Definition |
|---|---|
| microtubule-based movement | A microtubule-based process that results in the movement of organelles, other microtubules, or other cellular components. Examples include motor-driven movement along microtubules and movement driven by polymerization or depolymerization of microtubules. |
| transport along microtubule | The movement of organelles or other particles from one location in the cell to another along microtubules, driven by motor activity. |
| vesicle transport along microtubule | The directed movement of a vesicle along a microtubule, mediated by motor proteins. This process begins with the attachment of a vesicle to a microtubule, and ends when the vesicle reaches its final destination. |
5 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q9UI46 | DNAI1 | Dynein axonemal intermediate chain 1 | Homo sapiens (Human) | PR |
| Q8C0M8 | Dnai1 | Dynein axonemal intermediate chain 1 | Mus musculus (Mouse) | PR |
| O88485 | Dync1i1 | Cytoplasmic dynein 1 intermediate chain 1 | Mus musculus (Mouse) | PR |
| Q5XIL8 | Dnai1 | Dynein axonemal intermediate chain 1 | Rattus norvegicus (Rat) | PR |
| Q63100 | Dync1i1 | Cytoplasmic dynein 1 intermediate chain 1 | Rattus norvegicus (Rat) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MSDKSDLKAE | LERKKQRLAQ | IREEKKRKEE | ERKKKEADMQ | QKKEPVQDDS | DLDRKRRETE |
| 70 | 80 | 90 | 100 | 110 | 120 |
| ALLQSIGISP | EPPLVQPLHF | LTWDTCYFHY | LVPTPMSPSS | KSVSTPSEAG | SQDSGDLGPL |
| 130 | 140 | 150 | 160 | 170 | 180 |
| TRTLQWDTDP | SVLQLQSDSE | LGRRLHKLGV | SKVTQVDFLP | REVVSYSKET | QTPLATHQSE |
| 190 | 200 | 210 | 220 | 230 | 240 |
| EDEEDEEMVE | SKVGQDSELE | NQDKKQEVKE | APPRELTEEE | KQQILHSEEF | LIFFDRTIRV |
| 250 | 260 | 270 | 280 | 290 | 300 |
| IERALAEDSD | IFFDYSGREL | EEKDGDVQAG | ANLSFNRQFY | DEHWSKHRVV | TCMDWSLQYP |
| 310 | 320 | 330 | 340 | 350 | 360 |
| ELMVASYNNN | EDAPHEPDGV | ALVWNMKFKK | TTPEYVFHCQ | SSVMSVCFAR | FHPNLVVGGT |
| 370 | 380 | 390 | 400 | 410 | 420 |
| YSGQIVLWDN | RSHRRTPVQR | TPLSAAAHTH | PVYCVNVVGT | QNAHNLITVS | TDGKMCSWSL |
| 430 | 440 | 450 | 460 | 470 | 480 |
| DMLSTPQESM | ELVYNKSKPV | AVTGMAFPTG | DVNNFVVGSE | EGTVYTACRH | GSKAGIGEVF |
| 490 | 500 | 510 | 520 | 530 | 540 |
| EGHQGPVTGI | NCHMAVGPID | FSHLFVTSSF | DWTVKLWTTK | HNKPLYSFED | NADYVYDVMW |
| 550 | 560 | 570 | 580 | 590 | 600 |
| SPVHPALFAC | VDGMGRLDLW | NLNNDTEVPT | ASVAIEGASA | LNRVRWAQAG | KEVAVGDSEG |
| 610 | 620 | 630 | 640 | ||
| RIWVYDVGEL | AVPHNDEWTR | FARTLVEIRA | NRADSEEEGT | VELSA |