Q8IYU2
EV
Gene name |
HACE1 (KIAA1320) |
Protein name |
E3 ubiquitin-protein ligase HACE1 |
Names |
EC 2.3.2.26 , HECT domain and ankyrin repeat-containing E3 ubiquitin-protein ligase 1 , HECT-type E3 ubiquitin transferase HACE1 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:57531 |
EC number |
2.3.2.26: Aminoacyltransferases |
Protein Class |
HECT DOMAIN UBIQUITIN-PROTEIN LIGASE (PTHR11254) |
Descriptions
E3 ubiquitin-protein ligase HACE1 (HACE1) is a protein involved in Golgi membrane fusion and regulation of small GTPases. It plays a key role as a regulator of Golgi membrane dynamics during the cell cycles, recruiting to Golgi membrane by Rab proteins and regulating postmitotic Golgi membrane fusion. Autoinhibition of HACE1 is controlled by dimerization that induces a configuration inhibiting the ubiquitin transfer from E2 to substrate. This inhibitory state is maintained by specific interactions between the N-helix of one subunit and the small wing of the HECT N-lobe of the adjacent subunit.
Autoinhibitory domains (AIDs)
Target domain |
524-786 (N-lobe of HECT domain) |
Relief mechanism |
PTM, Partner binding, Ligand binding |
Assay |
Structural analysis, Mutagenesis experiment, Deletion assay |
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
5 structures for Q8IYU2
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 8H8X | EM | 392 A | A | 1-909 | PDB |
| 8HAE | EM | 455 A | A/B | 1-909 | PDB |
| 8PWL | EM | 473 A | A/B | 1-909 | PDB |
| 8Q0N | EM | 420 A | B | 22-909 | PDB |
| AF-Q8IYU2-F1 | Predicted | AlphaFoldDB |
717 variants for Q8IYU2
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
RCV000207289 rs761086584 CA058998 |
80 | C>* | Spastic paraplegia-severe developmental delay-epilepsy syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1319508199 RCV001823786 |
80 | C>Y | Spastic paraplegia-severe developmental delay-epilepsy syndrome [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs2115167557 RCV002274460 |
119 | E>* | Spastic paraplegia-severe developmental delay-epilepsy syndrome [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs869025280 RCV000207128 CA351526 |
219 | R>* | Spastic paraplegia-severe developmental delay-epilepsy syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV002515533 rs750371878 CA058429 RCV000207161 RCV001003961 |
269 | R>* | Global developmental delay Spastic paraplegia-severe developmental delay-epilepsy syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs2114797044 RCV001787301 |
449 | A>G | Spastic paraplegia-severe developmental delay-epilepsy syndrome [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs1455900509 COSM1439462 RCV001329170 |
451 | R>W | Variant assessed as Somatic; MODERATE impact. large_intestine Spastic paraplegia-severe developmental delay-epilepsy syndrome [NCI-TCGA, Cosmic, ClinVar] | Yes |
NCI-TCGA Cosmic cosmic curated ClinVar NCI-TCGA TOPMed dbSNP |
|
RCV000661911 rs1337798545 |
466 | Q>* | Spastic paraplegia-severe developmental delay-epilepsy syndrome [ClinVar] | Yes |
ClinVar dbSNP gnomAD |
|
RCV001782244 rs2114793034 |
481 | C>* | Spastic paraplegia-severe developmental delay-epilepsy syndrome [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs1582418143 RCV000987756 |
571 | S>* | Spastic paraplegia-severe developmental delay-epilepsy syndrome [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs751809418 CA065015 RCV000207222 |
618 | Q>missing | Spastic paraplegia-severe developmental delay-epilepsy syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP |
|
RCV000207215 rs869025281 COSM3920550 RCV000578801 CA351553 |
748 | R>* | Variant assessed as Somatic; HIGH impact. Spastic paraplegia-severe developmental delay-epilepsy syndrome [NCI-TCGA, ClinVar] | Yes |
ClinGen NCI-TCGA Cosmic ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
CA351540 RCV000207174 rs869025283 RCV003325305 |
832 | L>missing | Spastic paraplegia-severe developmental delay-epilepsy syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP |
| VAR_076311 | 832 | L>del | SPPRS [UniProt] | Yes | UniProt |
| rs1777115911 | 2 | E>D | No | Ensembl | |
| rs1777115081 | 4 | A>E | No | TOPMed | |
| TCGA novel | 4 | A>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1284125387 | 4 | A>T | No | gnomAD | |
| rs2114440808 | 5 | M>I | No | Ensembl | |
| rs1330363402 | 5 | M>R | No | gnomAD | |
| rs1407048438 | 5 | M>V | No |
TOPMed gnomAD |
|
| rs1777113701 | 7 | Q>* | No | TOPMed | |
| rs1307572279 | 8 | L>F | No |
TOPMed gnomAD |
|
| rs1286967893 | 8 | L>P | No |
TOPMed gnomAD |
|
| rs1307572279 | 8 | L>V | No |
TOPMed gnomAD |
|
| rs1777112318 | 10 | R>G | No | TOPMed | |
| rs1409235039 | 10 | R>H | No |
TOPMed gnomAD |
|
| rs1409235039 | 10 | R>L | No |
TOPMed gnomAD |
|
| rs1397144678 | 11 | L>V | No |
TOPMed gnomAD |
|
| rs1777111262 | 12 | T>S | No |
TOPMed gnomAD |
|
| rs1464387716 | 13 | R>H | No |
TOPMed gnomAD |
|
| rs1464387716 | 13 | R>L | No |
TOPMed gnomAD |
|
| rs867456390 | 17 | R>C | No | TOPMed | |
| TCGA novel | 17 | R>G | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs17853353 VAR_031180 |
17 | R>H | No |
UniProt Ensembl dbSNP |
|
| rs2114440080 | 18 | A>G | No | Ensembl | |
| rs1248895212 | 20 | T>I | No | gnomAD | |
| rs1180482210 | 21 | V>M | No | gnomAD | |
| rs1438847894 | 22 | E>* | No | gnomAD | |
| rs1275757483 | 22 | E>D | No | gnomAD | |
| rs1199283023 | 24 | P>S | No | gnomAD | |
| rs1264205142 | 25 | E>* | No |
TOPMed gnomAD |
|
| rs1327348195 | 25 | E>D | No | gnomAD | |
| rs1225578333 | 25 | E>G | No | gnomAD | |
| rs1264205142 | 25 | E>K | No |
TOPMed gnomAD |
|
| rs1264205142 | 25 | E>Q | No |
TOPMed gnomAD |
|
| rs1582818941 | 26 | D>N | No | Ensembl | |
| rs1460963384 | 26 | D>V | No |
TOPMed gnomAD |
|
| rs759136842 | 29 | T>S | No |
ExAC gnomAD |
|
| rs1381296944 | 31 | V>I | No | gnomAD | |
|
rs763431334 COSM1544793 COSM6172270 |
36 | P>L | lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] | No |
cosmic curated NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD |
| rs1453335775 | 37 | M>R | No | gnomAD | |
| rs1287281381 | 37 | M>V | No |
TOPMed gnomAD |
|
| rs1776321335 | 38 | V>A | No | TOPMed | |
| rs1290982945 | 38 | V>F | No | TOPMed | |
| rs1357006702 | 39 | M>T | No | TOPMed | |
| rs1364385748 | 41 | D>G | No | gnomAD | |
| rs773750574 | 43 | H>Y | No |
ExAC gnomAD |
|
| rs1441448408 | 44 | R>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
| rs1776146070 | 46 | V>F | No | TOPMed | |
| COSM384490 | 51 | S>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| COSM3994537 | 55 | F>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1016410870 | 56 | D>N | No |
TOPMed gnomAD |
|
| rs1776144902 | 56 | D>V | No | TOPMed | |
| rs775280348 | 57 | V>I | No | Ensembl | |
| rs759190298 | 58 | N>S | No |
ExAC TOPMed gnomAD |
|
| rs564594022 | 59 | Y>C | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs564594022 | 59 | Y>F | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs1369976684 | 59 | Y>H | No | gnomAD | |
| TCGA novel | 60 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1776143025 | 61 | F>V | No | Ensembl | |
| TCGA novel | 62 | G>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2114297802 | 65 | K>R | No | Ensembl | |
| rs1246260137 | 66 | R>M* | No | TOPMed | |
| rs200467769 | 68 | L>W | No |
1000Genomes ExAC gnomAD |
|
| rs1290413367 | 69 | L>P | No | gnomAD | |
| rs1776140254 | 72 | A>V | No | gnomAD | |
| rs946488994 | 73 | A>T | No | Ensembl | |
| rs150695375 | 73 | A>V | No |
1000Genomes ExAC gnomAD |
|
|
rs1326714726 COSM1697716 |
77 | S>L | skin [Cosmic] | No |
cosmic curated TOPMed gnomAD |
| rs1775942726 | 77 | S>T | No | TOPMed | |
|
COSM1568144 rs1380681749 |
79 | E>V | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated NCI-TCGA TOPMed gnomAD |
| rs1319508199 | 80 | C>S | No | Ensembl | |
| rs367650414 | 82 | V>I | No |
ESP ExAC gnomAD |
|
| COSM1071702 | 88 | G>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1006629367 | 88 | G>E | No | gnomAD | |
| rs746018759 | 89 | A>T | No |
ExAC gnomAD |
|
| rs1225751175 | 91 | P>T | No |
TOPMed gnomAD |
|
| rs774492588 | 94 | Q>H | No |
ExAC TOPMed gnomAD |
|
| rs1181638905 | 94 | Q>K | No | gnomAD | |
| TCGA novel | 94 | Q>P | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1253576922 | 94 | Q>R | No |
TOPMed gnomAD |
|
| rs1775936693 | 101 | P>A | No | gnomAD | |
|
rs1582771457 RCV000788088 |
101 | P>H | No |
ClinVar Ensembl dbSNP |
|
| rs1775935729 | 102 | L>R | No | TOPMed | |
| rs745901938 | 103 | H>R | No | Ensembl | |
| rs1775935090 | 105 | A>G | No | gnomAD | |
| rs1240650191 | 108 | N>S | No |
TOPMed gnomAD |
|
|
rs1775291229 COSM3828702 |
110 | Q>H | Variant assessed as Somatic; MODERATE impact. breast [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated Ensembl |
| TCGA novel | 111 | K>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs768595012 | 111 | K>Q | No |
ExAC gnomAD |
|
| rs1445562477 | 113 | C>R | No | gnomAD | |
| rs1449424001 | 114 | M>K | No | TOPMed | |
| COSM71017 | 114 | M>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs943402383 | 115 | S>N | No |
TOPMed gnomAD |
|
| TCGA novel | 116 | K>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2115167613 | 117 | L>F | No | Ensembl | |
| rs1171475688 | 121 | S>N | No |
TOPMed gnomAD |
|
| rs979419631 | 121 | S>R | No |
TOPMed gnomAD |
|
| rs1381692918 | 122 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
| rs966812364 | 124 | V>I | No | TOPMed | |
| rs1284636276 | 126 | I>S | No | gnomAD | |
| rs1296738653 | 128 | N>D | No | gnomAD | |
| rs1449756927 | 133 | T>I | No |
TOPMed gnomAD |
|
| rs779970264 | 134 | A>T | No |
ExAC gnomAD |
|
| rs996682667 | 135 | I>L | No | Ensembl | |
| rs1167700160 | 136 | H>R | No | gnomAD | |
| rs1774177385 | 137 | W>C | No | TOPMed | |
| rs1229863315 | 139 | A>D | No | gnomAD | |
| rs765454964 | 141 | N>D | No | Ensembl | |
| rs1260417772 | 141 | N>K | No | Ensembl | |
| rs767982277 | 143 | R>G | No |
ExAC TOPMed gnomAD |
|
| COSM3393739 | 143 | R>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs767982277 | 143 | R>W | No |
ExAC TOPMed gnomAD |
|
|
rs1582698649 COSM739816 |
144 | T>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic Ensembl |
| rs542221201 | 148 | H>R | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs1213115209 | 150 | L>V | No | Ensembl | |
| rs869025284 | 152 | Q>* | No | Ensembl | |
| rs1260756913 | 154 | V>F | No |
TOPMed gnomAD |
|
| rs1417799433 | 156 | D>N | No | gnomAD | |
| rs1006501224 | 157 | V>A | No |
TOPMed gnomAD |
|
| rs1006501224 | 157 | V>D | No |
TOPMed gnomAD |
|
| rs763104813 | 157 | V>I | No |
ExAC gnomAD |
|
| TCGA novel | 158 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1562474496 | 158 | D>V | No | Ensembl | |
| rs1419154325 | 159 | V>I | No |
TOPMed gnomAD |
|
| rs144406034 | 160 | E>D | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs868497008 | 160 | E>G | No | Ensembl | |
| rs1478168131 | 161 | D>E | No |
TOPMed gnomAD |
|
| COSM71016 | 162 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1582698215 | 163 | M>R | No | Ensembl | |
| rs769762375 | 164 | G>E | No |
ExAC gnomAD |
|
| rs1774167260 | 169 | H>P | No | gnomAD | |
| rs1016779278 | 169 | H>Y | No | Ensembl | |
| rs1774166264 | 173 | Q>* | No | gnomAD | |
| rs187016005 | 174 | N>K | No |
1000Genomes ExAC TOPMed gnomAD |
|
|
COSM134142 rs745677925 |
175 | G>S | skin [Cosmic] | No |
cosmic curated ExAC gnomAD |
| rs778797459 | 177 | K>R | No |
ExAC TOPMed gnomAD |
|
| rs770716775 | 178 | T>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA gnomAD |
| rs1458791297 | 179 | T>R | No | gnomAD | |
| TCGA novel | 185 | D>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1306178938 | 186 | S>R | No |
TOPMed gnomAD |
|
| TCGA novel | 186 | S>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1310416537 | 187 | G>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
| rs776729974 | 187 | G>S | No |
ExAC gnomAD |
|
| rs1310416537 | 187 | G>V | No |
TOPMed gnomAD |
|
| rs1449411601 | 188 | A>T | No | gnomAD | |
| rs1771604363 | 189 | D>G | No | TOPMed | |
| rs771923611 | 189 | D>N | No |
ExAC gnomAD |
|
| rs759485076 | 190 | I>M | No |
ExAC TOPMed gnomAD |
|
| rs2114972276 | 190 | I>T | No | Ensembl | |
| rs1336259709 | 190 | I>V | No | gnomAD | |
| COSM739817 | 192 | R>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| TCGA novel | 193 | P>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1280161878 | 193 | P>L | No | gnomAD | |
| rs866221470 | 193 | P>S | No | Ensembl | |
| rs949435260 | 195 | V>I | No | gnomAD | |
| rs1771601763 | 197 | G>A | No | Ensembl | |
| rs147905940 | 198 | A>T | No |
ESP gnomAD |
|
| rs1417212832 | 199 | T>I | No | gnomAD | |
| rs1226863417 | 200 | P>S | No | gnomAD | |
| rs1315087370 | 202 | Y>H | No | TOPMed | |
| TCGA novel | 204 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1771599254 | 204 | A>V | No | Ensembl | |
| rs1769725625 | 207 | H>Y | No | TOPMed | |
| TCGA novel | 208 | G>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1293635258 | 209 | Q>R | No | gnomAD | |
| rs1381873381 | 212 | T>I | No | gnomAD | |
| TCGA novel | 213 | A>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs773012435 | 214 | Q>E | No |
ExAC gnomAD |
|
| rs1473946658 | 215 | I>M | No | TOPMed | |
| rs776071702 | 219 | R>Q | No |
ExAC TOPMed gnomAD |
|
| rs1309339871 | 220 | G>R | No |
TOPMed gnomAD |
|
| rs1458180119 | 221 | A>S | No | gnomAD | |
| COSM3857214 | 221 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1395323364 | 221 | A>V | No | gnomAD | |
| rs200547628 | 222 | K>I | No |
1000Genomes ExAC gnomAD |
|
| rs200547628 | 222 | K>T | No |
1000Genomes ExAC gnomAD |
|
| rs1477330488 | 224 | L>R | No | gnomAD | |
| rs2114875852 | 225 | P>A | No | Ensembl | |
| rs1489993856 | 227 | K>E | No |
TOPMed gnomAD |
|
| rs779276252 | 231 | T>I | No |
ExAC gnomAD |
|
| rs1210978963 | 231 | T>S | No | gnomAD | |
| rs757421072 | 232 | P>L | No |
ExAC gnomAD |
|
| rs754082375 | 235 | L>I | No |
ExAC TOPMed gnomAD |
|
| rs1769712623 | 236 | C>W | No | TOPMed | |
| rs751585859 | 237 | V>A | No |
ExAC gnomAD |
|
| rs756240109 | 237 | V>I | No |
ExAC gnomAD |
|
| rs1342098819 | 238 | Q>* | No |
TOPMed gnomAD |
|
| rs1769710844 | 238 | Q>H | No | TOPMed | |
| rs1342098819 | 238 | Q>K | No |
TOPMed gnomAD |
|
| rs1458607926 | 239 | G>S | No | TOPMed | |
| rs1289447951 | 241 | Y>* | No | TOPMed | |
| rs1366785033 | 243 | E>K | No |
TOPMed gnomAD |
|
| rs199888034 | 247 | V>A | No |
1000Genomes ExAC gnomAD |
|
| rs150606553 | 250 | Q>H | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
|
COSM174376 rs774982768 |
251 | Y>H | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
cosmic curated ExAC NCI-TCGA gnomAD |
| rs771561621 | 252 | H>Q | No |
ExAC gnomAD |
|
|
rs867391794 COSM1439463 |
252 | H>R | large_intestine [Cosmic] | No |
cosmic curated Ensembl |
| rs760015476 | 253 | P>L | No |
ExAC TOPMed gnomAD |
|
| rs760015476 | 253 | P>R | No |
ExAC TOPMed gnomAD |
|
| COSM3619134 | 253 | P>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2114873913 | 255 | L>I | No | 1000Genomes | |
| rs775916067 | 257 | Q>* | No | Ensembl | |
| rs749691461 | 257 | Q>R | No |
ExAC gnomAD |
|
| rs1769676415 | 258 | T>I | No | Ensembl | |
| rs372441551 | 258 | T>P | No |
ESP ExAC gnomAD |
|
| rs770146581 | 259 | I>V | No |
ExAC TOPMed gnomAD |
|
| rs61754647 | 260 | I>F | No | gnomAD | |
| rs1769674916 | 260 | I>T | No | Ensembl | |
| rs61754647 | 260 | I>V | No | gnomAD | |
| rs1202287980 | 261 | Q>* | No | gnomAD | |
| rs922734307 | 261 | Q>L | No |
TOPMed gnomAD |
|
| rs922734307 | 261 | Q>R | No |
TOPMed gnomAD |
|
|
rs781480828 COSM294438 |
263 | T>A | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
| rs755063992 | 263 | T>I | No |
ExAC gnomAD |
|
| rs781480828 | 263 | T>P | No |
ExAC TOPMed gnomAD |
|
| rs1311267696 | 264 | Q>R | No | gnomAD | |
| rs1449992366 | 265 | N>H | No | gnomAD | |
| TCGA novel | 265 | N>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| COSM4942801 | 266 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1334439900 | 268 | L>H | No | gnomAD | |
| rs778943809 | 269 | R>L | No |
ExAC gnomAD |
|
| rs778943809 | 269 | R>Q | No |
ExAC gnomAD |
|
| rs1158504430 | 271 | N>T | No | gnomAD | |
| rs768078440 | 272 | M>V | No | Ensembl | |
| rs1769542869 | 273 | L>F | No |
TOPMed gnomAD |
|
| rs200884670 | 274 | R>P | No |
1000Genomes TOPMed gnomAD |
|
| rs200884670 | 274 | R>Q | No |
1000Genomes TOPMed gnomAD |
|
| rs186515097 | 274 | R>W | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs1265189873 | 275 | Q>* | No | gnomAD | |
| rs776965042 | 275 | Q>H | No |
ExAC TOPMed gnomAD |
|
| rs2114866767 | 276 | V>A | No | Ensembl | |
| rs768724960 | 277 | L>V | No |
ExAC TOPMed gnomAD |
|
| rs369711059 | 278 | E>* | No |
ESP ExAC TOPMed gnomAD |
|
| rs369711059 | 278 | E>Q | No |
ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 280 | L>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2114866640 | 281 | S>C | No | Ensembl | |
| rs2114866616 | 282 | Q>* | No | Ensembl | |
| rs1382668045 | 283 | Q>R | No | TOPMed | |
| rs757221111 | 284 | S>N | No |
ExAC gnomAD |
|
| rs148580892 | 286 | S>N | No |
ESP ExAC TOPMed gnomAD |
|
| rs148580892 | 286 | S>T | No |
ESP ExAC TOPMed gnomAD |
|
| rs1276986561 | 287 | Q>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
| rs777598892 | 288 | Y>C | No |
ExAC gnomAD |
|
|
RCV000657548 rs1554244625 |
290 | K>missing | No |
ClinVar dbSNP |
|
| rs1769534949 | 290 | K>E | No | TOPMed | |
| COSM3828701 | 290 | K>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs2114866386 RCV002017997 |
291 | I>F | No |
ClinVar Ensembl dbSNP |
|
| TCGA novel | 292 | L>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs755877890 | 294 | S>G | No |
ExAC gnomAD |
|
| rs1769532961 | 294 | S>N | No | gnomAD | |
| rs796745128 | 295 | L>P | No | Ensembl | |
| rs1350823580 | 296 | A>D | No |
TOPMed gnomAD |
|
| COSM3619133 | 296 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1232830643 | 299 | A>P | No |
TOPMed gnomAD |
|
| rs1399888207 | 300 | T>I | No |
TOPMed gnomAD |
|
| rs1769529572 | 301 | T>A | No | gnomAD | |
| rs1478812110 | 302 | N>K | No | gnomAD | |
| rs777656023 | 309 | L>P | No |
ExAC gnomAD |
|
| rs1783039088 | 311 | S>G | No | Ensembl | |
| rs1178856035 | 311 | S>N | No | gnomAD | |
| rs1458858178 | 312 | N>S | No |
TOPMed gnomAD |
|
| rs754727726 | 314 | D>G | No |
ExAC gnomAD |
|
|
rs1156454075 COSM3828700 |
316 | Q>E | Variant assessed as Somatic; MODERATE impact. breast [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated NCI-TCGA TOPMed gnomAD |
| rs993195605 | 317 | M>K | No |
TOPMed gnomAD |
|
| TCGA novel | 319 | S>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1238618572 | 319 | S>R | No |
TOPMed gnomAD |
|
| COSM3857213 | 320 | L>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs757950761 | 322 | R>K | No |
ExAC TOPMed gnomAD |
|
| rs749916941 | 322 | R>S | No |
ExAC TOPMed gnomAD |
|
| rs762356026 | 323 | I>F | No |
ExAC gnomAD |
|
| rs1302523182 | 323 | I>T | No | gnomAD | |
| rs762356026 | 323 | I>V | No |
ExAC gnomAD |
|
| rs777142884 | 326 | M>I | No |
ExAC gnomAD |
|
| rs764357653 | 328 | C>* | No |
ExAC gnomAD |
|
| rs1360979518 | 328 | C>G | No | gnomAD | |
| rs761011792 | 329 | H>Q | No |
ExAC TOPMed gnomAD |
|
| rs142150565 | 330 | V>I | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
|
RCV001090675 rs759641985 COSM3828699 |
332 | R>* | Variant assessed as Somatic; HIGH impact. breast [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
COSM1209266 rs1371773995 |
332 | R>Q | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated NCI-TCGA gnomAD |
| rs576866520 | 334 | G>D | No |
ExAC TOPMed gnomAD |
|
| rs1253594921 | 334 | G>S | No |
TOPMed gnomAD |
|
| rs1783029046 | 335 | P>A | No | Ensembl | |
| rs769736205 | 335 | P>L | No |
ExAC TOPMed gnomAD |
|
| rs533839093 | 337 | S>P | No |
1000Genomes gnomAD |
|
| TCGA novel | 337 | S>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs748011108 | 338 | P>A | No |
ExAC gnomAD |
|
| rs1353683792 | 338 | P>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
|
rs1277990642 COSM1253942 |
339 | S>I | oesophagus [Cosmic] | No |
cosmic curated TOPMed gnomAD |
| rs1287157812 | 340 | N>S | No | gnomAD | |
| rs903964403 | 341 | G>E | No |
TOPMed gnomAD |
|
| rs1783025917 | 342 | I>V | No | Ensembl | |
|
RCV000998661 rs1582487692 |
344 | M>I | No |
gnomAD ClinVar dbSNP |
|
| rs768314021 | 344 | M>K | No |
ExAC TOPMed gnomAD |
|
| rs768314021 | 344 | M>T | No |
ExAC TOPMed gnomAD |
|
| rs781099793 | 344 | M>V | No |
ExAC TOPMed gnomAD |
|
| rs1783023450 | 345 | G>D | No | gnomAD | |
| rs1763286034 | 347 | N>K | No | Ensembl | |
| rs746716752 | 348 | G>R | No |
ExAC gnomAD |
|
| rs138917853 | 349 | N>S | No |
ESP ExAC gnomAD |
|
| COSM3857212 | 350 | K>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1783021283 | 351 | T>I | No |
TOPMed gnomAD |
|
| COSM301116 | 353 | R>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs144694757 | 354 | S>C | No |
ESP ExAC TOPMed gnomAD |
|
| rs996826623 | 354 | S>N | No |
TOPMed gnomAD |
|
| rs1456922796 | 355 | Q>H | No | TOPMed | |
| rs1192924353 | 355 | Q>R | No | gnomAD | |
| TCGA novel | 357 | F>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 360 | L>P | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs745560442 | 361 | E>V | No |
ExAC gnomAD |
|
| rs1487373016 | 366 | S>L | No | TOPMed | |
| rs1200228392 | 368 | D>V | No | gnomAD | |
| rs1782236269 | 370 | W>* | No | TOPMed | |
| rs1582458217 | 372 | V>G | No | Ensembl | |
| rs1455811076 | 372 | V>I | No | gnomAD | |
| rs1424678992 | 373 | L>F | No |
TOPMed gnomAD |
|
|
rs17857038 VAR_031181 |
374 | I>T | No |
UniProt Ensembl dbSNP |
|
| rs1782233425 | 375 | A>V | No |
TOPMed gnomAD |
|
| COSM483217 | 377 | E>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1178244595 | 377 | E>G | No | gnomAD | |
| rs1782230832 | 381 | N>K | No | TOPMed | |
| rs748683111 | 382 | K>I | No |
ExAC gnomAD |
|
| rs781586315 | 382 | K>N | No |
ExAC TOPMed gnomAD |
|
| rs748683111 | 382 | K>R | No |
ExAC gnomAD |
|
| rs1582457943 | 384 | D>G | No | Ensembl | |
| rs1255284462 | 386 | T>I | No |
TOPMed gnomAD |
|
|
RCV001905751 rs755305409 |
387 | E>G | No |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
| rs1158525076 | 387 | E>K | No |
TOPMed gnomAD |
|
| rs751882947 | 388 | I>V | No |
ExAC TOPMed gnomAD |
|
| rs766611532 | 389 | T>A | No |
ExAC TOPMed |
|
| rs2114798341 | 389 | T>I | No | Ensembl | |
| rs368399234 | 390 | S>C | No |
ESP ExAC TOPMed gnomAD |
|
| rs368399234 | 390 | S>F | No |
ESP ExAC TOPMed gnomAD |
|
| rs1384733166 | 393 | L>Q | No | TOPMed | |
| rs1000367615 | 395 | Q>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
Ensembl NCI-TCGA |
| rs1377229178 | 396 | K>E | No |
TOPMed gnomAD |
|
| rs1330507353 | 397 | G>C | No |
TOPMed gnomAD |
|
| COSM5918972 | 397 | G>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1330507353 | 397 | G>S | No |
TOPMed gnomAD |
|
| rs1782221720 | 398 | Q>R | No | gnomAD | |
|
RCV000960037 rs34365906 |
399 | D>G | No |
ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
| rs1782220846 | 400 | Q>R | No |
TOPMed gnomAD |
|
| TCGA novel | 401 | D>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs765359328 | 402 | A>G | No |
ExAC gnomAD |
|
| rs765359328 | 402 | A>V | No |
ExAC gnomAD |
|
|
rs760591663 COSM3619132 |
403 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD |
| rs137941861 | 404 | S>A | No |
ESP ExAC TOPMed gnomAD |
|
| rs150291385 | 404 | S>C | No |
ESP ExAC TOPMed gnomAD |
|
| rs150291385 | 404 | S>F | No |
ESP ExAC TOPMed gnomAD |
|
| rs1440732394 | 405 | I>V | No | gnomAD | |
| rs774236122 | 406 | P>S | No |
ExAC TOPMed gnomAD |
|
| rs2114797935 | 407 | P>A | No | Ensembl | |
| rs748901937 | 408 | F>S | No |
ExAC gnomAD |
|
| rs748901937 | 408 | F>Y | No |
ExAC gnomAD |
|
| rs1189715668 | 409 | E>K | No | TOPMed | |
| rs1782215620 | 410 | P>L | No | Ensembl | |
| rs547134692 | 411 | P>L | No |
1000Genomes ExAC gnomAD |
|
| rs748644944 | 413 | P>A | No |
ExAC TOPMed gnomAD |
|
| COSM3857211 | 413 | P>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
COSM1544799 COSM6172276 rs1782214456 RCV001925203 |
413 | P>L | lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] | No |
cosmic curated NCI-TCGA Cosmic ClinVar Ensembl dbSNP |
|
rs781687827 RCV001531016 |
414 | G>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
| rs1782212910 | 417 | E>K | No | Ensembl | |
| rs1782212506 | 417 | E>V | No | Ensembl | |
| rs1782210971 | 422 | G>D | No | Ensembl | |
| rs780333703 | 423 | T>I | No |
ExAC gnomAD |
|
| rs780333703 | 423 | T>R | No |
ExAC gnomAD |
|
| rs1242165419 | 424 | R>G | No | gnomAD | |
| rs1782208941 | 425 | E>D | No | gnomAD | |
| rs758617427 | 426 | S>P | No |
ExAC gnomAD |
|
| rs1582457007 | 427 | K>N | No | Ensembl | |
| rs932002194 | 428 | P>S | No |
TOPMed gnomAD |
|
| rs370815931 | 429 | D>A | No |
ESP TOPMed gnomAD |
|
| rs1337514957 | 429 | D>H | No | gnomAD | |
| rs1417130507 | 432 | A>S | No |
TOPMed gnomAD |
|
| rs1417130507 | 432 | A>T | No |
TOPMed gnomAD |
|
| rs1782204974 | 432 | A>V | No | TOPMed | |
| rs1298145411 | 436 | E>K | No | gnomAD | |
| rs1782203910 | 437 | A>T | No | TOPMed | |
| rs1410631256 | 438 | S>I | No | gnomAD | |
| rs375832178 | 439 | A>T | No |
ESP ExAC TOPMed gnomAD |
|
| rs757323758 | 440 | D>N | No |
ExAC gnomAD |
|
| rs2114797149 | 440 | D>V | No | Ensembl | |
| TCGA novel | 441 | C>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1782201592 | 442 | Q>R | No | TOPMed | |
| rs1190198417 | 443 | D>N | No | gnomAD | |
| COSM1071695 | 443 | D>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| TCGA novel | 446 | S>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs372956151 | 447 | M>V | No |
ESP ExAC TOPMed gnomAD |
|
| rs1782199438 | 451 | R>L | No | TOPMed | |
| rs1782199438 | 451 | R>Q | No | TOPMed | |
| rs1207677791 | 453 | S>N | No | gnomAD | |
| TCGA novel | 454 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 455 | V>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 455 | V>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1355103338 | 456 | I>T | No |
TOPMed gnomAD |
|
| COSM4823035 | 457 | Q>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1390664056 | 457 | Q>E | No | TOPMed | |
| rs1390664056 | 457 | Q>K | No | TOPMed | |
| rs1355258847 | 457 | Q>R | No | gnomAD | |
| rs1782195263 | 458 | A>T | No | TOPMed | |
| rs1293563124 | 459 | F>S | No | gnomAD | |
| TCGA novel | 460 | Y>T | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1782193468 | 461 | M>T | No | gnomAD | |
| rs1306800681 | 461 | M>V | No |
TOPMed gnomAD |
|
| rs763324143 | 463 | C>Y | No | Ensembl | |
|
RCV001900061 rs200229134 |
464 | S>T | No |
ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs772890597 COSM1726946 |
467 | M>I | liver [Cosmic] | No |
cosmic curated ExAC TOPMed gnomAD |
| rs1240802341 | 468 | P>A | No |
TOPMed gnomAD |
|
|
RCV001939894 rs146071296 |
468 | P>L | No |
ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
| rs376262489 | 469 | P>= | Variant assessed as Somatic; LOW impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs761336527 COSM3975696 |
469 | P>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD |
| rs761223780 | 473 | S>T | No |
ExAC gnomAD |
|
| rs142172304 | 475 | R>C | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs142172304 | 475 | R>G | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
|
COSM1071693 rs772414060 |
475 | R>H | Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
| rs1782119854 | 484 | D>G | No | TOPMed | |
| rs1782120180 | 484 | D>H | No | TOPMed | |
| rs746263100 | 485 | E>D | No |
1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 490 | F>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs147561219 | 490 | F>V | No |
1000Genomes ExAC gnomAD |
|
| rs1782116482 | 492 | N>H | No | gnomAD | |
|
rs1782115954 COSM272761 |
493 | R>I | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated Ensembl |
| rs1414064118 | 495 | P>T | No |
TOPMed gnomAD |
|
| TCGA novel | 497 | I>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1009326527 | 498 | I>V | No | TOPMed | |
| rs1782077318 | 499 | F>C | No | TOPMed | |
| rs892281569 | 501 | H>Q | No | TOPMed | |
| rs759890829 | 503 | H>L | No |
ExAC gnomAD |
|
| rs201177284 | 507 | E>V | No |
ExAC TOPMed gnomAD |
|
| rs1056347042 | 508 | C>* | No |
TOPMed gnomAD |
|
| rs1215724337 | 511 | L>F | No |
TOPMed gnomAD |
|
| rs1562361278 | 514 | R>G | No | Ensembl | |
| rs1186653499 | 514 | R>T | No | gnomAD | |
| rs1487322452 | 516 | M>I | No | TOPMed | |
| rs1782070164 | 516 | M>K | No | Ensembl | |
| rs1003408347 | 517 | H>N | No | TOPMed | |
| rs1475262407 | 517 | H>R | No |
TOPMed gnomAD |
|
| rs771407610 | 518 | I>L | No |
ExAC gnomAD |
|
| rs1262655782 | 519 | I>T | No |
TOPMed gnomAD |
|
| COSM275415 | 523 | P>= | Variant assessed as Somatic; LOW impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1781320598 | 523 | P>L | No | TOPMed | |
| rs1278401918 | 523 | P>S | No |
TOPMed gnomAD |
|
| rs1781319913 | 525 | K>R | No | TOPMed | |
| rs1324802233 | 527 | R>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
| rs200377221 | 527 | R>H | No |
ExAC TOPMed gnomAD |
|
| rs200377221 | 527 | R>L | No |
ExAC TOPMed gnomAD |
|
| rs1781318707 | 528 | C>S | No | Ensembl | |
|
rs1781318017 COSM1311428 |
530 | W>* | urinary_tract Variant assessed as Somatic; HIGH impact. [Cosmic, NCI-TCGA] | No |
cosmic curated TOPMed NCI-TCGA Cosmic |
| rs1781316985 | 534 | H>R | No | TOPMed | |
| rs955464027 | 534 | H>Y | No |
TOPMed gnomAD |
|
| TCGA novel | 535 | L>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1781316336 | 536 | H>Q | No | Ensembl | |
|
RCV001931324 rs147607852 |
536 | H>Y | No |
ClinVar ESP TOPMed dbSNP gnomAD |
|
| rs558205263 | 537 | S>A | No | 1000Genomes | |
| rs760145400 | 544 | M>L | No |
ExAC TOPMed gnomAD |
|
| rs144739682 | 544 | M>T | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs760145400 | 544 | M>V | No |
ExAC TOPMed gnomAD |
|
| rs148740081 | 551 | E>A | No |
ESP ExAC gnomAD |
|
| rs148740081 | 551 | E>V | No |
ESP ExAC gnomAD |
|
| rs1781312697 | 552 | N>H | No | TOPMed | |
| rs1781312360 | 553 | D>G | No | Ensembl | |
| TCGA novel | 553 | D>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1781311762 | 554 | I>V | No | Ensembl | |
| rs1340178464 | 555 | L>R | No | gnomAD | |
| rs773653787 | 556 | L>M | No |
ExAC gnomAD |
|
| TCGA novel | 558 | H>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| COSM1439461 | 558 | H>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1781310124 | 559 | R>G | No | gnomAD | |
| TCGA novel | 560 | D>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs780801648 | 561 | S>A | No |
ExAC TOPMed gnomAD |
|
| rs367636983 | 561 | S>C | No |
ESP ExAC TOPMed gnomAD |
|
| rs367636983 | 561 | S>F | No |
ESP ExAC TOPMed gnomAD |
|
| COSM739819 | 562 | I>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs145211482 | 562 | I>V | No |
ESP ExAC TOPMed gnomAD |
|
| rs1781297055 | 564 | R>M | No | gnomAD | |
| COSM6172277 | 564 | R>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| TCGA novel | 566 | S>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1234693710 | 568 | E>A | No | gnomAD | |
| rs1781296726 | 568 | E>Q | No |
TOPMed gnomAD |
|
| rs375062721 | 569 | V>I | No |
ESP ExAC gnomAD |
|
| rs1562346237 | 573 | A>T | No | Ensembl | |
| rs1003716736 | 574 | N>K | No | TOPMed | |
| rs1308574427 | 575 | C>F | No | gnomAD | |
| rs370765018 | 579 | K>N | No |
ESP ExAC TOPMed gnomAD |
|
| rs768887712 | 580 | Q>E | No |
ExAC gnomAD |
|
| rs1781291472 | 580 | Q>R | No | TOPMed | |
| rs1162103143 | 581 | G>E | No | TOPMed | |
| rs1781290834 | 582 | I>T | No | Ensembl | |
| COSM3857210 | 583 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1781289895 | 584 | V>I | No | TOPMed | |
| rs775486183 | 585 | R>P | No |
ExAC TOPMed gnomAD |
|
| rs775486183 | 585 | R>Q | No |
ExAC TOPMed gnomAD |
|
| rs1436908088 | 585 | R>W | No |
TOPMed gnomAD |
|
|
RCV001956709 rs1370538907 |
587 | H>Q | No |
ClinVar TOPMed dbSNP gnomAD |
|
| rs1781288254 | 587 | H>R | No | TOPMed | |
| TCGA novel | 589 | E>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1781286304 | 592 | M>I | No | TOPMed | |
| rs1781286597 | 592 | M>L | No | Ensembl | |
| TCGA novel | 595 | G>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs139231075 | 598 | R>C | No |
ESP ExAC TOPMed gnomAD |
|
| COSM1071687 | 598 | R>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1051079183 | 599 | E>A | No | TOPMed | |
| rs772127875 | 600 | W>* | No |
ExAC TOPMed |
|
| rs1781269669 | 600 | W>R | No | Ensembl | |
| rs772127875 | 600 | W>S | No |
ExAC TOPMed |
|
| rs1188547775 | 602 | D>G | No | gnomAD | |
| rs146393808 | 603 | I>T | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs921969051 | 603 | I>V | No | TOPMed | |
| rs769731342 | 606 | N>S | No |
ExAC TOPMed gnomAD |
|
| rs1781266388 | 608 | I>M | No | TOPMed | |
| rs1781266682 | 608 | I>R | No | TOPMed | |
| rs865822173 | 609 | V>F | No | Ensembl | |
| rs865822173 | 609 | V>I | No | Ensembl | |
| rs1211442290 | 611 | P>L | No | gnomAD | |
| rs142216965 | 617 | T>S | No |
ESP ExAC TOPMed gnomAD |
|
| rs1261787346 | 618 | Q>P | No | gnomAD | |
| rs1208026807 | 620 | A>T | No |
TOPMed gnomAD |
|
| COSM739820 | 622 | G>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1440039221 | 624 | T>A | No | gnomAD | |
| rs1780676210 | 624 | T>I | No | TOPMed | |
| COSM1209265 | 624 | T>P | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1336450761 | 625 | F>S | No | TOPMed | |
| rs2114713820 | 626 | Q>H | No | Ensembl | |
| rs774440220 | 629 | S>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA gnomAD |
| rs1780675202 | 630 | N>T | No | Ensembl | |
| rs1562334084 | 632 | Y>* | No | Ensembl | |
| rs1328095754 | 632 | Y>H | No |
TOPMed gnomAD |
|
| rs868607772 | 635 | P>L | No | Ensembl | |
| rs2114713627 | 635 | P>T | No | Ensembl | |
| rs776346831 | 636 | D>H | No |
ExAC gnomAD |
|
| rs1479367419 | 639 | N>S | No | gnomAD | |
| rs775309908 | 640 | Y>C | No |
ExAC TOPMed gnomAD |
|
| rs981779796 | 641 | F>I | No | TOPMed | |
| rs745380889 | 642 | R>Q | No |
ExAC TOPMed gnomAD |
|
|
rs771798096 COSM281614 |
642 | R>W | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
| rs1278856446 | 644 | A>S | No |
TOPMed gnomAD |
|
| rs1278856446 | 644 | A>T | No |
TOPMed gnomAD |
|
| rs542288591 | 646 | Q>K | No |
1000Genomes ExAC gnomAD |
|
| rs1780665746 | 649 | G>R | No | gnomAD | |
| TCGA novel | 650 | L>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs199554586 COSM1580983 |
651 | A>T | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
cosmic curated 1000Genomes ExAC TOPMed gnomAD |
| rs756441971 | 651 | A>V | No |
ExAC gnomAD |
|
| rs1780663374 | 652 | L>S | No |
TOPMed gnomAD |
|
| rs1311005363 | 654 | H>D | No | gnomAD | |
| rs1780661560 | 654 | H>P | No | Ensembl | |
| COSM739821 | 655 | R>W | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs755135755 | 656 | Q>* | No |
ExAC gnomAD |
|
| rs1375904166 | 656 | Q>R | No | gnomAD | |
| rs1780659438 | 659 | N>D | No | TOPMed | |
| rs1406574493 | 659 | N>S | No |
TOPMed gnomAD |
|
|
RCV000627324 CA3940120 rs761703540 |
664 | R>* | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
rs866437012 COSM3920551 |
665 | S>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic Ensembl NCI-TCGA |
| TCGA novel | 670 | I>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs141696686 | 670 | I>V | No |
ESP ExAC TOPMed |
|
| rs1428007290 | 671 | L>V | No |
TOPMed gnomAD |
|
| rs1780583103 | 673 | I>V | No | TOPMed | |
| rs1332746145 | 674 | P>A | No | gnomAD | |
| COSM3697428 | 674 | P>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1780582002 | 678 | Q>* | No | gnomAD | |
| rs1253623319 | 678 | Q>H | No | gnomAD | |
| rs764135887 | 681 | A>T | No |
ExAC gnomAD |
|
| rs1335354320 | 682 | S>F | No | gnomAD | |
| rs1335354320 | 682 | S>Y | No | gnomAD | |
| rs767411043 | 683 | I>T | No |
ExAC gnomAD |
|
| rs1299609084 | 688 | A>G | No |
TOPMed gnomAD |
|
| rs1299609084 | 688 | A>V | No |
TOPMed gnomAD |
|
| TCGA novel | 689 | K>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs774025738 | 690 | N>D | No |
ExAC gnomAD |
|
| COSM450254 | 690 | N>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1391624392 | 692 | Q>* | No | gnomAD | |
| rs571485345 | 692 | Q>H | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs772652041 | 696 | D>E | No |
ExAC gnomAD |
|
| TCGA novel | 698 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs770290209 | 698 | D>V | No |
ExAC gnomAD |
|
| rs1180970213 | 700 | S>N | No | gnomAD | |
| TCGA novel | 701 | D>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1264299844 | 701 | D>Y | No |
TOPMed gnomAD |
|
| rs1420737401 | 703 | G>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
| rs1780572579 | 709 | S>A | No | TOPMed | |
| TCGA novel | 712 | T>P | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1780570785 | 722 | P>L | No | gnomAD | |
| rs780343474 | 725 | P>A | No |
ExAC TOPMed gnomAD |
|
| rs780343474 | 725 | P>S | No |
ExAC TOPMed gnomAD |
|
| rs1214350207 | 727 | G>V | No |
TOPMed gnomAD |
|
| TCGA novel | 727 | G>V | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs375071158 | 730 | I>S | No | Ensembl | |
| rs1469890443 | 730 | I>V | No | gnomAD | |
| rs1780567797 | 734 | Q>E | No | Ensembl | |
| TCGA novel | 734 | Q>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1780567327 | 735 | N>D | No | Ensembl | |
| TCGA novel | 737 | K>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1234640113 | 738 | A>T | No | gnomAD | |
|
RCV001984851 rs374813736 COSM1439460 |
738 | A>V | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
| rs757383847 | 741 | V>I | No |
ExAC TOPMed gnomAD |
|
| COSM74859 | 741 | V>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs754816505 | 748 | R>Q | No |
ExAC gnomAD |
|
| rs1777916874 | 752 | A>D | No |
TOPMed gnomAD |
|
| rs1777916874 | 752 | A>V | No |
TOPMed gnomAD |
|
| rs1777916528 | 754 | Q>R | No | TOPMed | |
| COSM1311427 | 757 | I>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1777914849 | 758 | N>D | No | gnomAD | |
| rs111598805 | 758 | N>I | No |
ESP ExAC TOPMed gnomAD |
|
| rs111598805 | 758 | N>S | No |
ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 761 | L>F | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| COSM1439458 | 761 | L>Y | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1279399387 | 762 | Q>H | No | gnomAD | |
| rs1484558365 | 762 | Q>R | No |
TOPMed gnomAD |
|
| rs758117312 | 764 | F>V | No |
ExAC gnomAD |
|
| rs1350946519 | 765 | H>R | No |
TOPMed gnomAD |
|
| rs1462535339 | 766 | M>V | No | gnomAD | |
| TCGA novel | 767 | F>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1777910191 | 768 | I>V | No | Ensembl | |
| COSM3619129 | 770 | P>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1777909852 | 770 | P>S | No | TOPMed | |
| rs1335839628 | 771 | S>F | No | gnomAD | |
| rs1290754687 | 773 | I>T | No |
TOPMed gnomAD |
|
| rs1413538364 | 775 | L>F | No | gnomAD | |
| rs776058340 | 777 | D>Y | No |
ExAC gnomAD |
|
| TCGA novel | 780 | E>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2114515003 | 787 | G>V | No | Ensembl | |
| rs1176473188 | 788 | M>V | No | gnomAD | |
| rs1777200351 | 789 | P>L | No | TOPMed | |
| rs1379291025 | 791 | I>T | No |
TOPMed gnomAD |
|
| rs1777199346 | 795 | D>Y | No | Ensembl | |
| rs964464566 | 796 | W>G | No |
TOPMed gnomAD |
|
| rs753118772 | 797 | I>M | No |
ExAC TOPMed gnomAD |
|
| rs761297846 | 797 | I>R | No |
ExAC TOPMed gnomAD |
|
| rs761297846 | 797 | I>T | No |
ExAC TOPMed gnomAD |
|
| TCGA novel | 799 | N>I | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1404649560 | 800 | T>R | No | Ensembl | |
| rs370727119 | 802 | Y>C | No |
ESP ExAC TOPMed gnomAD |
|
| rs1777196226 | 802 | Y>H | No | Ensembl | |
| rs1562274818 | 803 | T>A | No | Ensembl | |
| rs1777194953 | 805 | G>A | No | TOPMed | |
| TCGA novel | 806 | Y>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1777194641 | 807 | E>K | No | Ensembl | |
| rs1777194318 | 809 | E>G | No | TOPMed | |
| rs1777194000 | 811 | P>A | No | TOPMed | |
| rs1777193665 | 813 | I>F | No | Ensembl | |
| rs1777193354 | 814 | Q>* | No | Ensembl | |
| TCGA novel | 814 | Q>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1220841485 | 815 | W>C | No |
TOPMed gnomAD |
|
| rs1430159380 | 815 | W>S | No | gnomAD | |
| rs1777155656 | 816 | F>L | No | Ensembl | |
| rs2114511672 | 818 | E>K | No | Ensembl | |
| rs1022739963 | 818 | E>V | No | TOPMed | |
| rs1343773239 | 820 | V>A | No | TOPMed | |
| rs1777152711 | 821 | E>G | No | Ensembl | |
| rs1171338940 | 821 | E>Q | No | gnomAD | |
| rs1433755969 | 822 | D>Y | No | gnomAD | |
| rs745787717 | 823 | I>V | No |
ExAC TOPMed gnomAD |
|
| rs1777148732 | 824 | T>A | No | Ensembl | |
| rs1232739185 | 824 | T>I | No | gnomAD | |
| rs1232739185 | 824 | T>S | No | gnomAD | |
| rs1183621473 | 825 | Q>K | No | gnomAD | |
| rs1260918631 | 826 | E>Q | No | TOPMed | |
| rs770684803 | 827 | E>D | No |
ExAC TOPMed gnomAD |
|
| rs2114511127 | 831 | L>V | No | Ensembl | |
|
COSM3429816 rs749075377 |
836 | T>M | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
| rs1435397744 | 837 | G>V | No |
TOPMed gnomAD |
|
| rs749053775 | 839 | S>T | No |
ExAC gnomAD |
|
| rs769401432 | 840 | R>G | No |
ExAC gnomAD |
|
| rs1416256874 | 843 | H>L | No | gnomAD | |
| rs1416256874 | 843 | H>R | No | gnomAD | |
| rs1562240658 | 844 | G>D | No | Ensembl | |
| rs747825941 | 845 | G>E | No |
ExAC TOPMed gnomAD |
|
| rs1416470835 | 849 | I>N | No | gnomAD | |
| rs763837043 | 850 | M>L | No | Ensembl | |
| rs1310812648 | 850 | M>T | No |
TOPMed gnomAD |
|
|
rs745394044 RCV001804202 |
852 | G>missing | No |
ClinVar dbSNP |
|
| rs1349300144 | 857 | N>S | No |
TOPMed gnomAD |
|
| rs758872457 | 860 | I>V | No |
ExAC TOPMed gnomAD |
|
|
COSM1620715 rs377672261 |
861 | A>T | liver Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] | No |
NCI-TCGA Cosmic cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
| rs1775067770 | 863 | V>L | No | TOPMed | |
| rs1775066404 | 865 | Y>H | No | Ensembl | |
| rs1264957705 | 866 | T>S | No |
TOPMed gnomAD |
|
| rs1775065687 | 867 | P>A | No | TOPMed | |
| rs764263948 | 868 | N>Y | No |
ExAC TOPMed gnomAD |
|
| rs1775064502 | 869 | L>R | No | Ensembl | |
| rs146207667 | 871 | P>S | No |
ESP TOPMed |
|
| rs760768397 | 872 | T>A | No | ExAC | |
| rs1293434003 | 876 | C>Y | No | gnomAD | |
| rs1775003276 | 878 | N>S | No | Ensembl | |
| rs1775003633 | 878 | N>Y | No | gnomAD | |
| rs1775002910 | 881 | K>* | No | TOPMed | |
| rs2114334212 | 881 | K>R | No | Ensembl | |
| rs1276838549 | 886 | P>S | No |
TOPMed gnomAD |
|
| rs1775001879 | 887 | S>R | No | TOPMed | |
| rs1296957696 | 888 | K>E | No |
TOPMed gnomAD |
|
| rs1775001146 | 888 | K>R | No | Ensembl | |
| rs550729016 | 892 | K>N | No |
1000Genomes ExAC gnomAD |
|
| rs777986046 | 893 | D>E | No |
ExAC TOPMed gnomAD |
|
| rs903180713 | 895 | L>V | No |
TOPMed gnomAD |
|
| rs903622688 | 897 | V>L | No |
TOPMed gnomAD |
|
| rs749149699 | 900 | H>P | No |
TOPMed gnomAD |
|
| rs749149699 | 900 | H>R | No |
TOPMed gnomAD |
|
| rs756266267 | 900 | H>Y | No | ExAC | |
| rs1774995272 | 901 | C>Y | No | TOPMed | |
| TCGA novel | 903 | S>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1269294783 | 903 | S>R | No | gnomAD | |
| rs752844233 | 904 | Y>C | No |
ExAC TOPMed gnomAD |
|
| COSM739824 | 906 | Y>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1774994216 | 907 | T>A | No | TOPMed | |
| rs767622257 | 909 | A>P | No |
ExAC TOPMed gnomAD |
|
| TCGA novel | 909 | A>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs767622257 | 909 | A>T | No |
ExAC TOPMed gnomAD |
2 associated diseases with Q8IYU2
[MIM: 616756]: Spastic paraplegia and psychomotor retardation with or without seizures (SPPRS)
A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. SPPRS is an autosomal recessive neurodevelopmental disorder manifesting in infancy. Affected individuals show hypotonia and psychomotor retardation. Most develop seizures. . Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. SPPRS is an autosomal recessive neurodevelopmental disorder manifesting in infancy. Affected individuals show hypotonia and psychomotor retardation. Most develop seizures. . Note=The disease is caused by variants affecting the gene represented in this entry.
13 regional properties for Q8IYU2
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | AAA+ ATPase domain | 1788 - 2114 | IPR003593-1 |
| domain | AAA+ ATPase domain | 2410 - 2560 | IPR003593-2 |
| domain | AAA+ ATPase domain | 2752 - 2918 | IPR003593-3 |
| domain | Dynein heavy chain region D6 P-loop domain | 3792 - 3894 | IPR004273 |
| domain | Dynein heavy chain, tail | 220 - 763 | IPR013594 |
| domain | Dynein heavy chain, linker | 1221 - 1626 | IPR013602 |
| domain | Dynein heavy chain, AAA module D4 | 2732 - 2935 | IPR024317 |
| domain | Dynein heavy chain, coiled coil stalk | 3018 - 3346 | IPR024743 |
| domain | Dynein heavy chain, hydrolytic ATP-binding dynein motor region | 1758 - 2081 | IPR035699 |
| domain | Dynein heavy chain, ATP-binding dynein motor region | 3378 - 3597 | IPR035706 |
| domain | Dynein heavy chain 3, AAA+ lid domain | 2608 - 2681 | IPR041589 |
| domain | Dynein heavy chain AAA lid domain | 3929 - 4016 | IPR041658 |
| domain | DYN1, AAA+ ATPase lid domain | 2223 - 2358 | IPR048404 |
Functions
| Description | ||
|---|---|---|
| EC Number | 2.3.2.26 | Aminoacyltransferases |
| Subcellular Localization |
|
|
| PANTHER Family | PTHR11254 | HECT DOMAIN UBIQUITIN-PROTEIN LIGASE |
| PANTHER Subfamily | PTHR11254:SF363 | E3 UBIQUITIN-PROTEIN LIGASE HACE1 |
| PANTHER Protein Class | ubiquitin-protein ligase | |
| PANTHER Pathway Category | No pathway information available | |
6 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| 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). |
| Golgi cisterna membrane | The lipid bilayer surrounding any of the thin, flattened compartments that form the central portion of the Golgi complex. |
| Golgi membrane | The lipid bilayer surrounding any of the compartments of the Golgi apparatus. |
| nuclear body | Extra-nucleolar nuclear domains usually visualized by confocal microscopy and fluorescent antibodies to specific proteins. |
| 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. |
3 GO annotations of molecular function
| Name | Definition |
|---|---|
| small GTPase binding | Binding to a small monomeric GTPase. |
| ubiquitin protein ligase activity | Catalysis of the transfer of ubiquitin to a substrate protein via the reaction X-ubiquitin + S -> X + S-ubiquitin, where X is either an E2 or E3 enzyme, the X-ubiquitin linkage is a thioester bond, and the S-ubiquitin linkage is an amide bond |
| ubiquitin-protein transferase activity | Catalysis of the transfer of ubiquitin from one protein to another via the reaction X-Ub + Y --> Y-Ub + X, where both X-Ub and Y-Ub are covalent linkages. |
9 GO annotations of biological process
| Name | Definition |
|---|---|
| cell cycle | The progression of biochemical and morphological phases and events that occur in a cell during successive cell replication or nuclear replication events. Canonically, the cell cycle comprises the replication and segregation of genetic material followed by the division of the cell, but in endocycles or syncytial cells nuclear replication or nuclear division may not be followed by cell division. |
| Golgi organization | A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of the Golgi apparatus. |
| membrane fusion | The membrane organization process that joins two lipid bilayers to form a single membrane. |
| protein K48-linked ubiquitination | A protein ubiquitination process in which a polymer of ubiquitin, formed by linkages between lysine residues at position 48 of the ubiquitin monomers, is added to a protein. K48-linked ubiquitination targets the substrate protein for degradation. |
| protein polyubiquitination | Addition of multiple ubiquitin groups to a protein, forming a ubiquitin chain. |
| protein ubiquitination | The process in which one or more ubiquitin groups are added to a protein. |
| Rac protein signal transduction | The series of molecular signals within the cell that are mediated by a member of the Rac family of proteins switching to a GTP-bound active state. |
| regulation of cell migration | Any process that modulates the frequency, rate or extent of cell migration. |
| ubiquitin-dependent protein catabolic process | The chemical reactions and pathways resulting in the breakdown of a protein or peptide by hydrolysis of its peptide bonds, initiated by the covalent attachment of a ubiquitin group, or multiple ubiquitin groups, to the protein. |
19 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| F1N6G5 | HACE1 | E3 ubiquitin-protein ligase HACE1 | Bos taurus (Bovine) | SS |
| E1C656 | HACE1 | E3 ubiquitin-protein ligase HACE1 | Gallus gallus (Chicken) | SS |
| P16157 | ANK1 | Ankyrin-1 | Homo sapiens (Human) | EV |
| Q12955 | ANK3 | Ankyrin-3 | Homo sapiens (Human) | SS |
| Q01484 | ANK2 | Ankyrin-2 | Homo sapiens (Human) | EV |
| Q9HCE7 | SMURF1 | E3 ubiquitin-protein ligase SMURF1 | Homo sapiens (Human) | PR |
| Q9HAU4 | SMURF2 | E3 ubiquitin-protein ligase SMURF2 | Homo sapiens (Human) | EV |
| Q9H0M0 | WWP1 | NEDD4-like E3 ubiquitin-protein ligase WWP1 | Homo sapiens (Human) | EV |
| Q96J02 | ITCH | E3 ubiquitin-protein ligase Itchy homolog | Homo sapiens (Human) | EV |
| O00308 | WWP2 | NEDD4-like E3 ubiquitin-protein ligase WWP2 | Homo sapiens (Human) | EV |
| Q96PU5 | NEDD4L | E3 ubiquitin-protein ligase NEDD4-like | Homo sapiens (Human) | PR |
| P46934 | NEDD4 | E3 ubiquitin-protein ligase NEDD4 | Homo sapiens (Human) | EV |
| Q8C8R3 | Ank2 | Ankyrin-2 | Mus musculus (Mouse) | SS |
| Q02357 | Ank1 | Ankyrin-1 | Mus musculus (Mouse) | SS |
| Q3U0D9 | Hace1 | E3 ubiquitin-protein ligase HACE1 | Mus musculus (Mouse) | SS |
| O70511 | Ank3 | Ankyrin-3 | Rattus norvegicus (Rat) | EV |
| D3ZBM7 | Hace1 | E3 ubiquitin-protein ligase HACE1 | Rattus norvegicus (Rat) | SS |
| Q28BK1 | hace1 | E3 ubiquitin-protein ligase HACE1 | Xenopus tropicalis (Western clawed frog) (Silurana tropicalis) | SS |
| F8W2M1 | hace1 | E3 ubiquitin-protein ligase HACE1 | Danio rerio (Zebrafish) (Brachydanio rerio) | SS |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MERAMEQLNR | LTRSLRRART | VELPEDNETA | VYTLMPMVMA | DQHRSVSELL | SNSKFDVNYA |
| 70 | 80 | 90 | 100 | 110 | 120 |
| FGRVKRSLLH | IAANCGSVEC | LVLLLKKGAN | PNYQDISGCT | PLHLAARNGQ | KKCMSKLLEY |
| 130 | 140 | 150 | 160 | 170 | 180 |
| SADVNICNNE | GLTAIHWLAV | NGRTELLHDL | VQHVSDVDVE | DAMGQTALHV | ACQNGHKTTV |
| 190 | 200 | 210 | 220 | 230 | 240 |
| QCLLDSGADI | NRPNVSGATP | LYFACSHGQR | DTAQILLLRG | AKYLPDKNGV | TPLDLCVQGG |
| 250 | 260 | 270 | 280 | 290 | 300 |
| YGETCEVLIQ | YHPRLFQTII | QMTQNEDLRE | NMLRQVLEHL | SQQSESQYLK | ILTSLAEVAT |
| 310 | 320 | 330 | 340 | 350 | 360 |
| TNGHKLLSLS | SNYDAQMKSL | LRIVRMFCHV | FRIGPSSPSN | GIDMGYNGNK | TPRSQVFKPL |
| 370 | 380 | 390 | 400 | 410 | 420 |
| ELLWHSLDEW | LVLIATELMK | NKRDSTEITS | ILLKQKGQDQ | DAASIPPFEP | PGPGSYENLS |
| 430 | 440 | 450 | 460 | 470 | 480 |
| TGTRESKPDA | LAGRQEASAD | CQDVISMTAN | RLSAVIQAFY | MCCSCQMPPG | MTSPRFIEFV |
| 490 | 500 | 510 | 520 | 530 | 540 |
| CKHDEVLKCF | VNRNPKIIFD | HFHFLLECPE | LMSRFMHIIK | AQPFKDRCEW | FYEHLHSGQP |
| 550 | 560 | 570 | 580 | 590 | 600 |
| DSDMVHRPVN | ENDILLVHRD | SIFRSSCEVV | SKANCAKLKQ | GIAVRFHGEE | GMGQGVVREW |
| 610 | 620 | 630 | 640 | 650 | 660 |
| FDILSNEIVN | PDYALFTQSA | DGTTFQPNSN | SYVNPDHLNY | FRFAGQILGL | ALNHRQLVNI |
| 670 | 680 | 690 | 700 | 710 | 720 |
| YFTRSFYKHI | LGIPVNYQDV | ASIDPEYAKN | LQWILDNDIS | DLGLELTFSV | ETDVFGAMEE |
| 730 | 740 | 750 | 760 | 770 | 780 |
| VPLKPGGGSI | LVTQNNKAEY | VQLVTELRMT | RAIQPQINAF | LQGFHMFIPP | SLIQLFDEYE |
| 790 | 800 | 810 | 820 | 830 | 840 |
| LELLLSGMPE | IDVSDWIKNT | EYTSGYERED | PVIQWFWEVV | EDITQEERVL | LLQFVTGSSR |
| 850 | 860 | 870 | 880 | 890 | 900 |
| VPHGGFANIM | GGSGLQNFTI | AAVPYTPNLL | PTSSTCINML | KLPEYPSKEI | LKDRLLVALH |
| CGSYGYTMA |