O00429
PR
Gene name |
DNM1L (DLP1, DRP1) |
Protein name |
Dynamin-1-like protein |
Names |
Dnm1p/Vps1p-like protein, DVLP, Dynamin family member proline-rich carboxyl-terminal domain less, Dymple, Dynamin-like protein, Dynamin-like protein 4, Dynamin-like protein IV, HdynIV, Dynamin-related protein 1 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:10059 |
EC number |
3.6.5.5: Acting on GTP; involved in cellular and subcellular movement |
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
9 structures for O00429
371 variants for O00429
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
RCV000515453 CA384359086 VAR_080869 rs1555229948 |
2 | E>A | Optic atrophy 5 OPA5; changed localization to mitochondrion; impaired mitochondrial membrane fission [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV001869129 rs745921568 RCV000787973 CA6507215 |
10 | K>* | Obesity [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
VAR_080870 CA10586278 RCV000239716 RCV000384736 rs879255688 |
36 | S>G | Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 EMPF1; autosomal recessive; impaired mitochondrial membrane fission; hypomorphic mutation retaining partial activity in mitochondrial membrane fission [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV001251095 rs1952694899 |
39 | S>G | Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000196424 rs201929226 CA320842 RCV000763842 |
102 | T>M | Optic atrophy 5 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001266847 rs1952997134 RCV001198068 |
115 | T>R | Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000239652 rs879255687 RCV001854933 |
116 | E>missing | Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1953210856 RCV001333650 |
169 | L>F | Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA384367791 RCV000515455 rs1555119216 VAR_080871 |
192 | A>E | Optic atrophy 5 OPA5; changed localization to mitochondrion; impaired mitochondrial membrane fission [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs1592631789 RCV000850504 |
256 | K>missing | Optic atrophy 5 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000239649 CA10586279 rs879255689 |
350 | G>R | Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
VAR_076316 RCV000239637 rs879255685 CA10586275 |
362 | G>D | Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 EMPF1; unknown pathological significance; unable to associate with MIEF2 into filaments forming the tubular structures that wrap around the scission site; presence of concentric cristae and/or increased dense granules in some mitochondria [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV001557633 rs886037861 CA10586276 VAR_076317 RCV000239681 |
362 | G>S | Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 EMPF1; the mutation acts in a dominant-negative manner; defects observed in mitochondrial fission; significant decrease in mitochondrial respiratory chain complex IV activity [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs1954520736 RCV001253719 |
363 | G>S | Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1592661973 RCV000988806 CA384357295 |
370 | F>L | Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000414839 CA16043679 rs1057518694 |
379 | E>K | Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA117911 VAR_063704 rs121908531 RCV000006386 |
395 | A>D | Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 EMPF1; the mutation acts in a dominant-negative manner; defects observed in both mitochondrial and peroxisomal fission; reduced oligomerization, decreased mitochondrial recruitment [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs863223953 RCV000850522 RCV000622584 RCV000200196 CA324758 RCV000239677 VAR_076318 |
403 | R>C | Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 Optic atrophy 5 Inborn genetic diseases EMPF1; the mutation acts in a dominant-negative manner; reduced oligomerization; decreased mitochondrial recruitment; defects observed in mitochondrial fission [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
| VAR_080872 | 406 | L>S | EMPF1; impaired mitochondrial and peroxisomal membrane fission [UniProt] | Yes | UniProt |
|
RCV001271120 RCV001265935 rs1954544114 |
410 | E>K | Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000484397 rs1064794656 RCV002248701 CA16619510 |
431 | C>Y | Optic atrophy 5 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA10584093 RCV000237095 rs879253874 |
446 | C>F | Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1031075173 RCV000988807 CA235199345 |
524 | L>S | Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV002515393 rs367627379 RCV000199095 CA323632 |
550 | A>T | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs745309773 CA6507693 RCV000498231 RCV002524108 |
584 | P>A | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000988808 rs1592688400 CA384362945 |
608 | K>Q | Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA319868 RCV000988809 RCV000195517 rs138133550 RCV002517208 RCV001857728 |
612 | I>F | Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1011225865 RCV002549718 RCV000988810 CA235206118 |
639 | R>W | Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1565548029 RCV000850546 RCV000757997 CA384365801 |
691 | Y>C | Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 Optic atrophy 5 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1384408811 CA384359099 |
3 | A>T | No |
ClinGen TOPMed |
|
|
rs1270620589 CA384359125 |
4 | L>I | No |
ClinGen TOPMed gnomAD |
|
|
rs771090587 CA6507213 |
6 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA384359156 rs1198426789 |
6 | P>S | No |
ClinGen gnomAD |
|
|
rs1471152339 CA384359193 |
8 | I>L | No |
ClinGen TOPMed gnomAD |
|
|
CA6507214 rs781103166 |
9 | N>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA658658127 rs1555229978 RCV000520809 |
9 | N>H* | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs771381138 CA235218103 |
9 | N>S | No |
ClinGen Ensembl |
|
|
rs1592548168 CA384359228 |
10 | K>R | No |
ClinGen Ensembl |
|
|
rs201348675 CA6507216 |
12 | Q>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1157033230 CA384359298 |
13 | D>H | No |
ClinGen gnomAD |
|
|
CA235218120 rs896148786 |
16 | N>D | No |
ClinGen TOPMed |
|
|
CA6507218 rs761707963 |
18 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA16606518 RCV000439994 rs1057523007 |
32 | G>A | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1338124555 CA384363068 |
44 | S>I | No |
ClinGen gnomAD |
|
| TCGA novel | 46 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1310050043 CA384363132 |
47 | G>V | No |
ClinGen gnomAD |
|
|
CA6507239 rs772908146 |
50 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA384363251 rs1337368786 |
52 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA384363259 rs1337368786 |
52 | P>R | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 54 | G>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 58 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6507241 rs200245104 |
60 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA6507242 rs776561736 |
62 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1203150153 CA384363496 |
64 | I>L | No |
ClinGen TOPMed gnomAD |
|
|
CA384363593 rs1160087717 |
68 | V>A | No |
ClinGen TOPMed |
|
|
CA384363613 rs1194309962 |
69 | H>R | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 71 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
VAR_022446 rs1064610 |
71 | S>T | No |
UniProt dbSNP |
|
|
CA235235818 rs371579886 |
74 | D>H | No |
ClinGen ESP TOPMed |
|
|
CA6507245 rs775172506 |
76 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs918224990 CA235235821 |
76 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
CA235235827 rs952149887 |
79 | T>A | No |
ClinGen TOPMed |
|
|
CA6507246 rs762561184 |
79 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 80 | G>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 81 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6507247 rs763762352 |
82 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs1372482384 CA384365645 |
84 | G>A | No |
ClinGen TOPMed |
|
|
CA6507291 rs772365551 |
85 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs928097787 CA235238853 |
89 | E>D | No |
ClinGen TOPMed |
|
|
CA384365717 rs1337529893 |
89 | E>Q | No |
ClinGen gnomAD |
|
|
CA384365763 rs1303300557 |
92 | K>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA6507292 rs773747516 |
93 | F>V | No |
ClinGen ExAC gnomAD |
|
|
COSM938812 CA384365805 rs1460019135 |
95 | H>Y | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
CA384365833 rs1400677432 |
97 | K>E | No |
ClinGen TOPMed |
|
|
CA384365836 rs1592602833 |
97 | K>R | No |
ClinGen Ensembl |
|
|
rs141185042 CA235238876 |
98 | N>I | No |
ClinGen ESP |
|
|
CA384365863 rs1276813403 |
99 | K>M | No |
ClinGen gnomAD |
|
|
rs1489365981 CA384365859 |
99 | K>Q | No |
ClinGen gnomAD |
|
|
rs1284463739 CA384366029 |
104 | F>L | No |
ClinGen gnomAD |
|
|
CA384366070 rs1565508233 |
106 | E>A | No |
ClinGen Ensembl |
|
|
rs1352593144 COSM938813 CA384366099 |
108 | R>Q | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA235239413 rs750681544 |
109 | Q>H | No |
ClinGen Ensembl |
|
| TCGA novel | 110 | E>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA384366159 rs1331490439 |
111 | I>V | No |
ClinGen TOPMed |
|
|
CA6507317 rs752843798 |
112 | E>K | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 112 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs879255687 | 116 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 117 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA384366282 rs1232557020 |
121 | N>D | No |
ClinGen Ensembl |
|
|
rs1555118683 RCV000676345 CA384366792 |
130 | I>V | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs374865870 CA235241027 |
131 | H>N | No |
ClinGen Ensembl |
|
|
CA235241035 rs377454127 |
132 | L>F | No |
ClinGen Ensembl |
|
|
rs1176938577 CA384366833 |
133 | K>Q | No |
ClinGen gnomAD |
|
|
CA6507332 rs771460757 |
133 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs1473305626 CA384366846 |
134 | I>L | No |
ClinGen gnomAD |
|
|
CA384366848 rs1473305626 |
134 | I>V | No |
ClinGen gnomAD |
|
|
rs777165189 CA6507333 |
136 | S>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA384366876 rs1404971575 |
136 | S>L | No |
ClinGen TOPMed |
|
|
CA6507335 rs746168549 |
138 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6507334 rs746168549 |
138 | N>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs150170255 RCV001697013 CA6507337 |
139 | V>I | Variant assessed as Somatic; 0.0009241 impact. [NCI-TCGA] | No |
ClinGen ClinVar 1000Genomes ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs138620818 RCV001531150 CA322062 RCV000197602 |
141 | N>S | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs761994526 CA6507339 |
143 | T>A | No |
ClinGen ExAC gnomAD |
|
|
RCV001002556 RCV000443148 rs1057523861 CA16606519 |
146 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
CA384367022 rs1383100203 |
150 | M>L | No |
ClinGen gnomAD |
|
|
CA6507355 rs770049591 |
153 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA235242456 CA6507356 rs776124108 |
157 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 157 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6507357 rs749775366 |
158 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs1210909458 CA384367210 |
159 | P>S | No |
ClinGen TOPMed |
|
|
rs953313441 CA235242479 |
161 | D>Y | No |
ClinGen Ensembl |
|
|
CA6507362 rs773298342 |
165 | Q>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA384367401 rs1565512915 |
169 | L>R | No |
ClinGen Ensembl |
|
|
rs759430253 CA6507363 |
171 | L>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA235242521 rs764915133 |
172 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6507364 rs764915133 |
172 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA384367436 rs1308058855 |
172 | R>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA384367468 rs1158418550 |
174 | I>L | No |
ClinGen gnomAD |
|
|
CA384367519 rs200474114 |
176 | N>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA6507365 rs200474114 |
176 | N>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1381541976 CA384367538 |
177 | P>S | No |
ClinGen TOPMed |
|
|
rs758439519 CA6507366 |
180 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA384367594 rs1177962270 |
181 | I>V | No |
ClinGen gnomAD |
|
|
rs1170370521 CA384367630 |
183 | A>D | No |
ClinGen gnomAD |
|
|
CA6507368 rs751127554 COSM256804 |
183 | A>T | Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA384367640 rs1386720662 |
184 | V>I | No |
ClinGen gnomAD |
|
|
CA6507371 rs750031238 |
191 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780965041 CA6507370 |
191 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA384367768 rs1409512648 |
191 | M>V | No |
ClinGen TOPMed |
|
|
rs1309986527 CA384367810 |
194 | S>A | No |
ClinGen TOPMed |
|
| TCGA novel | 194 | S>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6507373 rs780252977 |
204 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs749615882 CA6507374 |
205 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs749615882 CA384367994 |
205 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA384368009 rs1462914389 |
206 | D>G | No |
ClinGen TOPMed |
|
|
CA384368781 rs1217689913 |
208 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs766905181 CA6507388 |
208 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750138115 CA6507389 |
212 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755741612 CA6507390 |
213 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA384368887 rs1481764946 |
218 | D>N | No |
ClinGen Ensembl |
|
|
CA384368901 rs1592628533 |
220 | M>L | No |
ClinGen Ensembl |
|
|
CA6507391 rs779714779 |
220 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA6507392 COSM185754 rs754202457 |
222 | A>V | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA6507394 rs755273034 |
227 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs779468068 CA6507395 |
228 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA384368965 rs1230267460 |
229 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA235246188 CA235246190 rs745793670 |
231 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1592628632 CA384369001 |
234 | V>G | No |
ClinGen Ensembl |
|
|
CA6507396 rs748626399 |
241 | I>L | No |
ClinGen ExAC gnomAD |
|
|
rs772245414 CA6507397 |
242 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA6507398 rs777740373 |
243 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA384369098 rs1194016851 |
248 | S>C | No |
ClinGen TOPMed |
|
|
CA384369135 rs1424280721 |
253 | N>D | No |
ClinGen gnomAD |
|
|
rs945120265 CA235247171 |
254 | N>D | No |
ClinGen TOPMed |
|
|
RCV001093214 rs1953761791 |
254 | N>missing | No |
ClinVar dbSNP |
|
|
CA6507411 rs138048932 |
254 | N>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 256 | K>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
TCGA novel CA6507412 rs143502160 |
257 | S>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ESP ExAC TOPMed gnomAD NCI-TCGA |
|
CA6507413 rs758862589 |
260 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA384369217 rs1450536271 |
262 | I>V | No |
ClinGen gnomAD |
|
|
rs778277609 CA6507414 COSM938815 |
263 | R>C | endometrium [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA6507415 rs369600288 |
263 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 263 | R>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA384369239 rs1394690252 |
264 | D>G | No |
ClinGen gnomAD |
|
| TCGA novel | 267 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1319273972 CA384369283 |
268 | F>L | No |
ClinGen gnomAD |
|
|
CA384369295 rs1217452893 |
269 | L>F | No |
ClinGen gnomAD |
|
| TCGA novel | 271 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 278 | N>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6507418 rs191913233 |
278 | N>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1210310144 CA384369496 |
281 | G>R | No |
ClinGen gnomAD |
|
|
rs1555122234 CA384369644 |
287 | R>S | No |
ClinGen Ensembl |
|
|
rs1401710739 CA384369652 |
288 | T>A | No |
ClinGen TOPMed |
|
|
CA235247233 rs930566171 |
291 | R>K | No |
ClinGen TOPMed gnomAD |
|
|
CA384370032 rs1479023201 |
294 | M>R | No |
ClinGen gnomAD |
|
|
CA384370075 rs1412490222 |
295 | H>R | No |
ClinGen TOPMed |
|
|
CA384370065 rs1191895722 |
295 | H>Y | No |
ClinGen gnomAD |
|
|
CA6507434 rs752103486 |
301 | L>S | No |
ClinGen ExAC gnomAD |
|
|
rs1057110607 CA235248149 |
306 | T>A | No |
ClinGen TOPMed |
|
|
rs745893339 CA6507437 |
308 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA384370496 rs1436540918 |
310 | V>A | No |
ClinGen gnomAD |
|
|
CA6507439 rs780354745 |
310 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA6507440 rs747906672 |
311 | L>V | No |
ClinGen ExAC |
|
|
CA235248193 rs897648599 |
326 | V>M | No |
ClinGen TOPMed |
|
|
rs1316868041 CA384370886 |
327 | D>A | No |
ClinGen TOPMed |
|
|
rs1275949625 CA384370931 |
329 | K>R | No |
ClinGen TOPMed |
|
|
rs758981725 CA6507445 |
330 | S>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1222396350 CA384371042 |
333 | L>F | No |
ClinGen gnomAD |
|
|
CA384371202 rs1360870959 |
340 | F>Y | No |
ClinGen TOPMed |
|
|
rs763293775 CA6507448 |
345 | C>F | No |
ClinGen ExAC gnomAD |
|
|
rs1280000270 CA384371318 |
348 | I>V | No |
ClinGen gnomAD |
|
|
CA6507449 rs764487834 |
351 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs374035685 RCV000481156 CA16619509 |
355 | I>M | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
| TCGA novel | 363 | G>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
RCV000994886 CA384357254 rs1592661947 |
364 | A>D | No |
ClinGen ClinVar Ensembl dbSNP |
|
| TCGA novel | 372 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6507469 rs768149530 |
376 | R>* | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 376 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs149835088 CA6507471 |
381 | V>A | No |
ClinGen ESP ExAC gnomAD |
|
|
rs766446989 CA6507472 |
382 | D>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 383 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6507473 rs753816187 |
384 | L>I | No |
ClinGen ExAC gnomAD |
|
|
rs563960563 CA235195669 |
389 | T>A | No |
ClinGen 1000Genomes |
|
|
rs121908531 CA324712 |
395 | A>G | No |
ClinGen Ensembl |
|
|
rs1443306992 CA384357480 |
397 | R>T | No |
ClinGen gnomAD |
|
| TCGA novel | 401 | G>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA384357617 rs1316999302 |
401 | G>S | No |
ClinGen TOPMed |
|
|
CA384357635 rs1453311778 |
402 | P>S | No |
ClinGen TOPMed |
|
|
CA235195852 rs953635 |
417 | V>G | No |
ClinGen Ensembl |
|
|
rs1263144131 CA384358478 |
419 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA6507494 RCV000785123 rs776779003 COSM1204274 |
419 | R>W | large_intestine [Cosmic] | No |
ClinGen cosmic curated ClinVar ExAC dbSNP gnomAD |
|
CA235195864 rs992623773 |
422 | K>R | No |
ClinGen Ensembl |
|
|
CA6507496 rs765555527 |
423 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA235195873 VAR_030489 CA384358581 rs2389105 |
426 | E>D | No |
ClinGen gnomAD UniProt dbSNP |
|
|
rs905283579 CA235195880 |
430 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
| TCGA novel | 441 | R>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs756107898 CA6507502 |
447 | S>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 449 | Y>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA235195898 rs938122399 |
450 | S>G | No |
ClinGen TOPMed |
|
|
rs1555125923 CA384358949 |
450 | S>N | No |
ClinGen Ensembl |
|
|
rs1387186009 CA384358976 |
451 | T>I | No |
ClinGen TOPMed |
|
|
CA235196181 rs929544837 |
456 | R>* | No |
ClinGen TOPMed gnomAD |
|
|
rs777512650 CA6507540 COSM938822 |
456 | R>Q | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA235196191 rs952702570 |
461 | H>Q | No |
ClinGen Ensembl |
|
|
CA235196222 rs890708529 |
464 | I>V | No |
ClinGen TOPMed |
|
|
CA235196225 rs984565210 |
465 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1039126845 CA235196228 |
470 | C>F | No |
ClinGen TOPMed |
|
| TCGA novel | 470 | C>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6507541 rs747468677 |
473 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs900218595 CA235196236 |
473 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1165349966 CA384359789 |
475 | R>S | No |
ClinGen gnomAD |
|
|
rs781743377 CA6507543 |
478 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771442203 CA235197034 |
487 | V>L | No |
ClinGen TOPMed |
|
|
CA235197026 rs771442203 |
487 | V>M | No |
ClinGen TOPMed |
|
|
CA6507565 rs746203446 |
488 | A>T | No |
ClinGen ExAC |
|
|
CA6507566 rs770290056 |
489 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA384360167 rs1446428064 |
493 | Y>C | No |
ClinGen gnomAD |
|
| TCGA novel | 495 | N>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 499 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM3671056 COSM3671055 CA384360241 rs1215143262 |
503 | D>V | Variant assessed as Somatic; 0.0 impact. prostate [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs1194462799 CA384360253 |
505 | C>Y | No |
ClinGen gnomAD |
|
|
CA6507568 rs768715602 |
508 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
RCV000431728 CA6507569 rs148686457 |
512 | I>T | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs756456130 CA6507587 |
517 | R>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
| TCGA novel | 518 | N>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA384360691 rs1378374416 |
518 | N>S | No |
ClinGen gnomAD |
|
|
CA6507588 rs780603647 |
519 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA6507589 rs201966248 |
520 | L>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA384360749 rs1466811479 |
527 | A>V | No |
ClinGen gnomAD |
|
|
CA6507591 rs778877877 |
528 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1334908137 CA384360756 |
529 | S>P | No |
ClinGen gnomAD |
|
|
rs1439786424 RCV000578881 CA384360762 COSM1289754 |
530 | R>* | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated ClinVar TOPMed dbSNP gnomAD |
|
CA6507593 rs748215133 |
530 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6507592 rs748215133 |
530 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 531 | D>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs773474698 CA6507594 |
531 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA384360772 rs1233977568 |
532 | K>E | No |
ClinGen gnomAD |
|
|
rs771229782 CA6507625 |
534 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA384361283 rs1272468730 |
536 | V>A | No |
ClinGen gnomAD |
|
|
CA6507626 rs200201471 |
536 | V>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs561705501 CA6507627 |
537 | P>A | No |
ClinGen 1000Genomes ExAC |
|
|
rs1226529797 CA384361292 |
537 | P>L | No |
ClinGen TOPMed |
|
|
rs971412136 CA235200152 |
538 | S>G | No |
ClinGen gnomAD |
|
|
rs768489890 CA6507628 |
541 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1284507721 CA384361333 |
542 | P>L | No |
ClinGen TOPMed |
|
|
rs535907248 CA6507629 |
542 | P>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs761296463 CA6507630 |
544 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA235200181 rs777005596 |
546 | E>D | No |
ClinGen gnomAD |
|
|
CA6507632 rs767021397 |
547 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA322482 rs146565893 RCV001705125 |
547 | P>L | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA320896 RCV000196481 rs767021397 |
547 | P>S | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
CA384361371 rs754204113 |
549 | P>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6507633 rs754204113 |
549 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA321031 RCV000196608 rs761934549 |
549 | P>S | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
CA323075 RCV000198556 rs143236486 RCV001853176 |
550 | A>D | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs367627379 CA6507637 |
550 | A>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs143236486 RCV001066764 |
550 | A>V | No |
ClinVar dbSNP |
|
|
CA324992 rs151232689 RCV000200424 |
551 | A>T | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA384361380 rs1415174785 |
551 | A>V | No |
ClinGen TOPMed |
|
|
CA6507639 rs757559862 |
554 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA235200238 rs770791053 |
555 | A>G | No |
ClinGen Ensembl |
|
|
CA235200242 rs1041131420 |
556 | D>G | No |
ClinGen Ensembl |
|
|
rs1205195941 CA384361415 |
557 | G>D | No |
ClinGen gnomAD |
|
|
rs747853679 CA6507661 |
563 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA235200663 rs908267163 COSM185758 |
563 | S>R | large_intestine [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs1396008534 CA384361487 |
566 | E>K | No |
ClinGen TOPMed |
|
| TCGA novel | 569 | N>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA235205669 rs201599334 |
570 | V>A | No |
ClinGen 1000Genomes |
|
|
CA384362226 rs1297238215 |
571 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
CA384362232 rs1443489945 |
571 | A>V | No |
ClinGen TOPMed |
|
|
rs200121892 CA6507688 |
572 | S>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6507689 COSM3704074 rs200121892 COSM3704075 |
572 | S>F | liver [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
| TCGA novel | 573 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs746931612 CA6507690 |
575 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
RCV000480466 rs1064796519 |
575 | G>FSGASG | No |
ClinVar dbSNP |
|
|
rs140385935 CA235205690 |
577 | V>L | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1187287636 CA384362390 |
580 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
rs780712126 CA6507692 |
582 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA384362485 rs1470456176 |
586 | T>A | No |
ClinGen TOPMed |
|
| TCGA novel | 587 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA384362550 rs1430413582 |
590 | R>K | No |
ClinGen TOPMed gnomAD |
|
|
CA6507695 rs774993840 |
592 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749727800 CA6507696 |
594 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
rs142350144 CA6507697 |
600 | E>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 605 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1373025030 CA384362916 |
607 | S>P | No |
ClinGen TOPMed gnomAD |
|
|
rs970542018 CA235205759 |
608 | K>N | No |
ClinGen Ensembl |
|
|
rs138133550 CA6507700 |
612 | I>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA384363090 CA384363093 rs1362063625 |
613 | M>I | No |
ClinGen gnomAD |
|
|
CA6507701 rs760612084 |
613 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA6507702 rs374816038 |
615 | A>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6507703 rs753979883 |
617 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA235205794 rs143592037 |
620 | G>A | No |
ClinGen ESP TOPMed |
|
| TCGA novel | 620 | G>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA384363348 rs1412594768 |
620 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
CA6507707 rs757191582 |
623 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA235205839 rs757191582 |
623 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs1486237466 CA384363507 |
626 | L>V | No |
ClinGen gnomAD |
|
|
CA384363523 rs1186108950 |
627 | D>H | No |
ClinGen gnomAD |
|
|
CA384363764 rs1399579227 |
631 | P>A | No |
ClinGen gnomAD |
|
|
rs1228666743 CA384363790 |
632 | V>I | No |
ClinGen TOPMed |
|
|
rs1156401234 CA384363825 |
633 | A>T | No |
ClinGen gnomAD |
|
|
rs755697908 CA384363857 |
634 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA384363864 rs1334083521 |
634 | R>Q | No |
ClinGen TOPMed |
|
|
rs1324806947 CA384363930 |
635 | K>T | No |
ClinGen gnomAD |
|
| TCGA novel | 636 | L>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs536594496 CA6507730 |
638 | A>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1372606763 CA384364013 |
640 | E>Q | No |
ClinGen gnomAD |
|
|
CA384364032 rs1223281402 |
641 | Q>E | No |
ClinGen gnomAD |
|
|
CA6507731 rs754678039 |
641 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
CA384364043 rs1402323944 |
642 | R>* | No |
ClinGen TOPMed |
|
|
rs778646236 CA6507732 |
642 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1214515254 CA384364076 |
644 | C>R | No |
ClinGen gnomAD |
|
|
CA235206125 rs376966743 |
644 | C>Y | No |
ClinGen ESP |
|
|
CA6507734 rs369974940 |
648 | E>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA384364161 rs1233958373 |
649 | R>* | No |
ClinGen TOPMed gnomAD |
|
|
rs373262213 CA235206156 |
652 | K>I | No |
ClinGen ESP |
|
|
rs747496322 CA6507735 |
657 | I>V | No |
ClinGen ExAC gnomAD |
|
|
COSM1676822 COSM1676823 rs776581804 CA6507737 |
659 | R>S | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA384364385 rs1388194070 |
660 | K>T | No |
ClinGen gnomAD |
|
|
rs138697096 CA235206193 |
662 | I>T | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA235206196 rs1002656329 |
664 | D>G | No |
ClinGen TOPMed |
|
|
CA6507753 rs535793293 |
672 | H>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA6507754 rs535793293 |
672 | H>Y | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA384365603 rs1418477326 |
676 | N>S | No |
ClinGen gnomAD |
|
|
rs863223952 RCV000198330 CA322827 |
678 | V>M | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA6507760 rs769836116 |
685 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA384365726 rs1338793113 |
686 | L>P | No |
ClinGen gnomAD |
|
|
rs775735556 CA6507761 |
689 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA384365775 rs1339087646 |
689 | Q>H | No |
ClinGen gnomAD |
|
| TCGA novel | 692 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6507764 rs772887555 |
697 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs1281269050 CA384365899 |
698 | D>G | No |
ClinGen Ensembl |
|
|
CA384365956 rs1432284979 |
701 | T>I | No |
ClinGen TOPMed |
|
| TCGA novel | 702 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA384366109 rs1211063636 |
707 | A>E | No |
ClinGen TOPMed |
|
|
rs558042817 CA235208099 |
709 | R>C | No |
ClinGen 1000Genomes gnomAD |
|
|
rs776702636 COSM1204272 CA6507767 |
709 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA235208101 rs58202873 |
710 | R>K | No |
ClinGen Ensembl |
|
|
CA384366161 rs1241205476 |
711 | K>T | No |
ClinGen gnomAD |
|
|
rs759154998 RCV000756031 CA6507768 |
712 | E>A | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs752217265 CA6507770 |
716 | M>K | No |
ClinGen ExAC gnomAD |
|
|
rs752217265 CA6507771 |
716 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs764865265 CA6507769 |
716 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA384366342 rs1457496434 |
719 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
| TCGA novel | 722 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs575528259 CA6507800 |
723 | A>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA384366406 rs1328208349 |
724 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
CA235208696 rs368684474 |
725 | Q>E | No |
ClinGen ESP TOPMed |
|
|
CA6507803 rs757613675 |
727 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA6507805 rs750745310 |
731 | R>W | No |
ClinGen ExAC gnomAD |
3 associated diseases with O00429
[MIM: 614388]: Encephalopathy due to defective mitochondrial and peroxisomal fission 1 (EMPF1)
A rare autosomal dominant systemic disorder resulting in lack of neurologic development and death in infancy. After birth, infants present in the first week of life with poor feeding and neurologic impairment, including hypotonia, little spontaneous movement, no tendon reflexes, no response to light stimulation, and poor visual fixation. Other features include mildly elevated plasma concentration of very-long-chain fatty acids, lactic acidosis, microcephaly, deep-set eyes, optic atrophy and hypoplasia, and an abnormal gyral pattern in both frontal lobes associated with dysmyelination. {ECO:0000269|PubMed:17460227, ECO:0000269|PubMed:26604000, ECO:0000269|PubMed:26992161, ECO:0000269|PubMed:27145208, ECO:0000269|PubMed:27301544, ECO:0000269|PubMed:27328748, ECO:0000269|PubMed:29899447}. Note=The disease is caused by variants affecting the gene represented in this entry.
[MIM: 610708]: Optic atrophy 5 (OPA5)
A form of optic atrophy, a disease characterized by progressive visual loss in association with a deficiency in the number of nerve fibers which arise in the retina and converge to form the optic disk, optic nerve, optic chiasm and optic tracts. OPA5 is an autosomal dominant non-syndromic form that manifests as slowly progressive visual loss with variable onset from the first to third decades. Additional ocular abnormalities may include central scotoma and dyschromatopsia. {ECO:0000269|PubMed:28969390}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- A rare autosomal dominant systemic disorder resulting in lack of neurologic development and death in infancy. After birth, infants present in the first week of life with poor feeding and neurologic impairment, including hypotonia, little spontaneous movement, no tendon reflexes, no response to light stimulation, and poor visual fixation. Other features include mildly elevated plasma concentration of very-long-chain fatty acids, lactic acidosis, microcephaly, deep-set eyes, optic atrophy and hypoplasia, and an abnormal gyral pattern in both frontal lobes associated with dysmyelination. {ECO:0000269|PubMed:17460227, ECO:0000269|PubMed:26604000, ECO:0000269|PubMed:26992161, ECO:0000269|PubMed:27145208, ECO:0000269|PubMed:27301544, ECO:0000269|PubMed:27328748, ECO:0000269|PubMed:29899447}. Note=The disease is caused by variants affecting the gene represented in this entry.
- A form of optic atrophy, a disease characterized by progressive visual loss in association with a deficiency in the number of nerve fibers which arise in the retina and converge to form the optic disk, optic nerve, optic chiasm and optic tracts. OPA5 is an autosomal dominant non-syndromic form that manifests as slowly progressive visual loss with variable onset from the first to third decades. Additional ocular abnormalities may include central scotoma and dyschromatopsia. {ECO:0000269|PubMed:28969390}. Note=The disease is caused by variants affecting the gene represented in this entry.
5 regional properties for O00429
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | ABC transporter-like, ATP-binding domain | 27 - 249 | IPR003439 |
| domain | AAA+ ATPase domain | 55 - 226 | IPR003593 |
| domain | ABC transporter, teichoic acids export TagH-like | 8 - 231 | IPR015860 |
| conserved_site | ABC transporter-like, conserved site | 150 - 164 | IPR017871 |
| domain | LysM domain | 403 - 448 | IPR018392 |
Functions
| Description | ||
|---|---|---|
| EC Number | 3.6.5.5 | Acting on GTP; involved in cellular and subcellular movement |
| Subcellular Localization |
|
|
| PANTHER Family | ||
| PANTHER Subfamily | ||
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
17 GO annotations of cellular component
| Name | Definition |
|---|---|
| anchoring junction | A cell junction that mechanically attaches a cell (and its cytoskeleton) to neighboring cells or to the extracellular matrix. |
| brush border | The dense covering of microvilli on the apical surface of an epithelial cell in tissues such as the intestine, kidney, and choroid plexus; the microvilli aid absorption by increasing the surface area of the cell. |
| clathrin-coated pit | A part of the endomembrane system in the form of an invagination of a membrane upon which a clathrin coat forms, and that can be converted by vesicle budding into a clathrin-coated vesicle. Coated pits form on the plasma membrane, where they are involved in receptor-mediated selective transport of many proteins and other macromolecules across the cell membrane, in the trans-Golgi network, and on some endosomes. |
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| endoplasmic reticulum | The irregular network of unit membranes, visible only by electron microscopy, that occurs in the cytoplasm of many eukaryotic cells. The membranes form a complex meshwork of tubular channels, which are often expanded into slitlike cavities called cisternae. The ER takes two forms, rough (or granular), with ribosomes adhering to the outer surface, and smooth (with no ribosomes attached). |
| endoplasmic reticulum membrane | The lipid bilayer surrounding the endoplasmic reticulum. |
| Golgi apparatus | A membrane-bound cytoplasmic organelle of the endomembrane system that further processes the core oligosaccharides (e.g. N-glycans) added to proteins in the endoplasmic reticulum and packages them into membrane-bound vesicles. The Golgi apparatus operates at the intersection of the secretory, lysosomal, and endocytic pathways. |
| intracellular membrane-bounded organelle | Organized structure of distinctive morphology and function, bounded by a single or double lipid bilayer membrane and occurring within the cell. Includes the nucleus, mitochondria, plastids, vacuoles, and vesicles. Excludes the plasma membrane. |
| membrane | A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it. |
| 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. |
| mitochondrial outer membrane | The outer, i.e. cytoplasm-facing, lipid bilayer of the mitochondrial envelope. |
| mitochondrion | A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration. |
| perinuclear region of cytoplasm | Cytoplasm situated near, or occurring around, the nucleus. |
| peroxisome | A small organelle enclosed by a single membrane, and found in most eukaryotic cells. Contains peroxidases and other enzymes involved in a variety of metabolic processes including free radical detoxification, lipid catabolism and biosynthesis, and hydrogen peroxide metabolism. |
| protein-containing complex | A stable assembly of two or more macromolecules, i.e. proteins, nucleic acids, carbohydrates or lipids, in which at least one component is a protein and the constituent parts function together. |
| synaptic vesicle membrane | The lipid bilayer surrounding a synaptic vesicle. |
11 GO annotations of molecular function
| Name | Definition |
|---|---|
| GTP binding | Binding to GTP, guanosine triphosphate. |
| GTP-dependent protein binding | Binding to a protein or protein complex when at least one of the interacting partners is in the GTP-bound state. |
| GTPase activator activity | Binds to and increases the activity of a GTPase, an enzyme that catalyzes the hydrolysis of GTP. |
| GTPase activity | Catalysis of the reaction: GTP + H2O = GDP + H+ + phosphate. |
| identical protein binding | Binding to an identical protein or proteins. |
| lipid binding | Binding to a lipid. |
| microtubule binding | Binding to a microtubule, a filament composed of tubulin monomers. |
| molecular adaptor activity | The binding activity of a molecule that brings together two or more molecules through a selective, non-covalent, often stoichiometric interaction, permitting those molecules to function in a coordinated way. |
| protein homodimerization activity | Binding to an identical protein to form a homodimer. |
| small GTPase binding | Binding to a small monomeric GTPase. |
| ubiquitin protein ligase binding | Binding to a ubiquitin protein ligase enzyme, any of the E3 proteins. |
31 GO annotations of biological process
| Name | Definition |
|---|---|
| calcium ion transport | The directed movement of calcium (Ca) ions into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. |
| dynamin family protein polymerization involved in mitochondrial fission | The process of creating dynamin protein family polymers, compounds composed of a large number of dynamin family monomers around a lipid tube of a dividing mitochondrion. Dynamin polymers form around lipid tubes and contribute to membrane fission. |
| endocytosis | A vesicle-mediated transport process in which cells take up external materials or membrane constituents by the invagination of a small region of the plasma membrane to form a new membrane-bounded vesicle. |
| heart contraction | The multicellular organismal process in which the heart decreases in volume in a characteristic way to propel blood through the body. |
| intracellular distribution of mitochondria | Any process that establishes the spatial arrangement of mitochondria within the cell. |
| localization | Any process in which a cell, a substance, or a cellular entity, such as a protein complex or organelle, is transported, tethered to or otherwise maintained in a specific location. In the case of substances, localization may also be achieved via selective degradation. |
| membrane fusion | The membrane organization process that joins two lipid bilayers to form a single membrane. |
| mitochondrial fission | The division of a mitochondrion within a cell to form two or more separate mitochondrial compartments. |
| mitochondrial fragmentation involved in apoptotic process | The change in the morphology of the mitochondria in an apoptotic cell from a highly branched network to a fragmented vesicular form. |
| mitochondrial membrane fission | A process that is carried out at the cellular level which results in the separation of a single continuous mitochondrial membrane into two membranes and contributes to mitochondrial fission. |
| mitochondrion morphogenesis | The process in which the anatomical structures of a mitochondrion are generated and organized. |
| mitochondrion organization | A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of a mitochondrion; includes mitochondrial morphogenesis and distribution, and replication of the mitochondrial genome as well as synthesis of new mitochondrial components. |
| necroptotic process | A programmed necrotic cell death process which begins when a cell receives a signal (e.g. a ligand binding to a death receptor or to a Toll-like receptor), and proceeds through a series of biochemical events (signaling pathways), characterized by activation of receptor-interacting serine/threonine-protein kinase 1 and/or 3 (RIPK1/3, also called RIP1/3) and by critical dependence on mixed lineage kinase domain-like (MLKL), and which typically lead to common morphological features of necrotic cell death. The process ends when the cell has died. The process is divided into a signaling phase, and an execution phase, which is triggered by the former. |
| peroxisome fission | The division of a mature peroxisome within a cell to form two or more separate peroxisome compartments. |
| positive regulation of apoptotic process | Any process that activates or increases the frequency, rate or extent of cell death by apoptotic process. |
| positive regulation of intrinsic apoptotic signaling pathway | Any process that activates or increases the frequency, rate or extent of intrinsic apoptotic signaling pathway. |
| positive regulation of mitochondrial fission | Any process that increases the rate, frequency or extent of mitochondrial fission. Mitochondrial fission is the division of a mitochondrion within a cell to form two or more separate mitochondrial compartments. |
| positive regulation of neutrophil chemotaxis | Any process that increases the frequency, rate, or extent of neutrophil chemotaxis. Neutrophil chemotaxis is the directed movement of a neutrophil cell, the most numerous polymorphonuclear leukocyte found in the blood, in response to an external stimulus, usually an infection or wounding. |
| positive regulation of protein secretion | Any process that activates or increases the frequency, rate or extent of the controlled release of a protein from a cell. |
| positive regulation of release of cytochrome c from mitochondria | Any process that increases the rate, frequency or extent of release of cytochrome c from mitochondria, the process in which cytochrome c is enabled to move from the mitochondrial intermembrane space into the cytosol, which is an early step in apoptosis and leads to caspase activation. |
| protein complex oligomerization | The process of creating protein oligomers, compounds composed of a small number, usually between three and ten, of component monomers; protein oligomers may be composed of different or identical monomers. Oligomers may be formed by the polymerization of a number of monomers or the depolymerization of a large protein polymer. |
| protein localization to mitochondrion | A process in which a protein is transported to, or maintained in, a location within the mitochondrion. |
| protein-containing complex assembly | The aggregation, arrangement and bonding together of a set of macromolecules to form a protein-containing complex. |
| regulation of ATP metabolic process | Any process that modulates the frequency, rate or extent of ATP metabolic process. |
| regulation of autophagy of mitochondrion | Any process that modulates the frequency, rate or extent of mitochondrion degradation by an autophagic process. |
| regulation of gene expression | Any process that modulates the frequency, rate or extent of gene expression. Gene expression is the process in which a gene's coding sequence is converted into a mature gene product (protein or RNA). |
| regulation of mitochondrion organization | Any process that modulates the frequency, rate or extent of a process involved in the formation, arrangement of constituent parts, or disassembly of a mitochondrion. |
| regulation of peroxisome organization | Any process that modulates the frequency, rate or extent of peroxisome organization. |
| regulation of ubiquitin protein ligase activity | Any process that modulates the frequency, rate or extent of ubiquitin protein ligase activity. |
| release of cytochrome c from mitochondria | The process that results in the movement of cytochrome c from the mitochondrial intermembrane space into the cytosol, which is part of the apoptotic signaling pathway and leads to caspase activation. |
| rhythmic process | Any process pertinent to the generation and maintenance of rhythms in the physiology of an organism. |
10 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q9UQ16 | DNM3 | Dynamin-3 | Homo sapiens (Human) | PR |
| Q05193 | DNM1 | Dynamin-1 | Homo sapiens (Human) | PR |
| Q8BZ98 | Dnm3 | Dynamin-3 | Mus musculus (Mouse) | PR |
| P39053 | Dnm1 | Dynamin-1 | Mus musculus (Mouse) | PR |
| Q8K1M6 | Dnm1l | Dynamin-1-like protein | Mus musculus (Mouse) | PR |
| P21575 | Dnm1 | Dynamin-1 | Rattus norvegicus (Rat) | PR |
| Q08877 | Dnm3 | Dynamin-3 | Rattus norvegicus (Rat) | PR |
| O35303 | Dnm1l | Dynamin-1-like protein | Rattus norvegicus (Rat) | PR |
| Q8LF21 | DRP1C | Phragmoplastin DRP1C | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q8S3C9 | DRP1D | Phragmoplastin DRP1D | Arabidopsis thaliana (Mouse-ear cress) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MEALIPVINK | LQDVFNTVGA | DIIQLPQIVV | VGTQSSGKSS | VLESLVGRDL | LPRGTGIVTR |
| 70 | 80 | 90 | 100 | 110 | 120 |
| RPLILQLVHV | SQEDKRKTTG | EENGVEAEEW | GKFLHTKNKL | YTDFDEIRQE | IENETERISG |
| 130 | 140 | 150 | 160 | 170 | 180 |
| NNKGVSPEPI | HLKIFSPNVV | NLTLVDLPGM | TKVPVGDQPK | DIELQIRELI | LRFISNPNSI |
| 190 | 200 | 210 | 220 | 230 | 240 |
| ILAVTAANTD | MATSEALKIS | REVDPDGRRT | LAVITKLDLM | DAGTDAMDVL | MGRVIPVKLG |
| 250 | 260 | 270 | 280 | 290 | 300 |
| IIGVVNRSQL | DINNKKSVTD | SIRDEYAFLQ | KKYPSLANRN | GTKYLARTLN | RLLMHHIRDC |
| 310 | 320 | 330 | 340 | 350 | 360 |
| LPELKTRINV | LAAQYQSLLN | SYGEPVDDKS | ATLLQLITKF | ATEYCNTIEG | TAKYIETSEL |
| 370 | 380 | 390 | 400 | 410 | 420 |
| CGGARICYIF | HETFGRTLES | VDPLGGLNTI | DILTAIRNAT | GPRPALFVPE | VSFELLVKRQ |
| 430 | 440 | 450 | 460 | 470 | 480 |
| IKRLEEPSLR | CVELVHEEMQ | RIIQHCSNYS | TQELLRFPKL | HDAIVEVVTC | LLRKRLPVTN |
| 490 | 500 | 510 | 520 | 530 | 540 |
| EMVHNLVAIE | LAYINTKHPD | FADACGLMNN | NIEEQRRNRL | ARELPSAVSR | DKSSKVPSAL |
| 550 | 560 | 570 | 580 | 590 | 600 |
| APASQEPSPA | ASAEADGKLI | QDSRRETKNV | ASGGGGVGDG | VQEPTTGNWR | GMLKTSKAEE |
| 610 | 620 | 630 | 640 | 650 | 660 |
| LLAEEKSKPI | PIMPASPQKG | HAVNLLDVPV | PVARKLSARE | QRDCEVIERL | IKSYFLIVRK |
| 670 | 680 | 690 | 700 | 710 | 720 |
| NIQDSVPKAV | MHFLVNHVKD | TLQSELVGQL | YKSSLLDDLL | TESEDMAQRR | KEAADMLKAL |
| 730 | |||||
| QGASQIIAEI | RETHLW |