Q93009
PR
Gene name |
USP7 |
Protein name |
Ubiquitin carboxyl-terminal hydrolase 7 |
Names |
Deubiquitinating enzyme 7, Herpesvirus-associated ubiquitin-specific protease, Ubiquitin thioesterase 7, Ubiquitin-specific-processing protease 7 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:7874 |
EC number |
3.4.19.12: Omega peptidases |
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
64 structures for Q93009
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 1NB8 | X-ray | 230 A | A/B | 208-560 | PDB |
| 1NBF | X-ray | 230 A | A/B/E | 208-560 | PDB |
| 1YY6 | X-ray | 170 A | A | 54-204 | PDB |
| 1YZE | X-ray | 200 A | A/B/C | 54-205 | PDB |
| 2F1W | X-ray | 165 A | A | 53-206 | PDB |
| 2F1X | X-ray | 230 A | A/B | 53-200 | PDB |
| 2F1Y | X-ray | 170 A | A | 53-198 | PDB |
| 2F1Z | X-ray | 320 A | A/B | 43-560 | PDB |
| 2FOJ | X-ray | 160 A | A | 54-205 | PDB |
| 2FOO | X-ray | 220 A | A | 54-205 | PDB |
| 2FOP | X-ray | 210 A | A | 54-205 | PDB |
| 2KVR | NMR | - | A | 537-664 | PDB |
| 2XXN | X-ray | 160 A | A | 63-205 | PDB |
| 2YLM | X-ray | 270 A | A | 560-1084 | PDB |
| 3MQR | X-ray | 180 A | A | 54-205 | PDB |
| 3MQS | X-ray | 240 A | C | 54-205 | PDB |
| 4JJQ | X-ray | 195 A | A | 54-205 | PDB |
| 4KG9 | X-ray | 170 A | A | 54-205 | PDB |
| 4M5W | X-ray | 224 A | A | 207-560 | PDB |
| 4M5X | X-ray | 219 A | A/B | 207-560 | PDB |
| 4PYZ | X-ray | 284 A | A/B | 537-793 | PDB |
| 4WPH | X-ray | 292 A | A/B | 535-888 | PDB |
| 4WPI | X-ray | 340 A | A/B | 535-888 | PDB |
| 4YOC | X-ray | 292 A | C | 560-1102 | PDB |
| 4YSI | X-ray | 102 A | A | 63-205 | PDB |
| 4Z96 | X-ray | 285 A | A | 560-1083 | PDB |
| 4Z97 | X-ray | 300 A | A | 560-1083 | PDB |
| 5C56 | X-ray | 269 A | A | 560-1102 | PDB |
| 5C6D | X-ray | 229 A | A/B | 561-881 | PDB |
| 5FWI | X-ray | 340 A | C | 207-882 | PDB |
| 5GG4 | X-ray | 311 A | A/B/C/D | 560-890 | PDB |
| 5J7T | X-ray | 320 A | A | 211-881 | PDB |
| 5JTJ | X-ray | 332 A | PDB | ||
| 5JTV | X-ray | 331 A | PDB | ||
| 5KYB | X-ray | 220 A | A/B | 208-554 | PDB |
| 5KYC | X-ray | 143 A | B | 208-554 | PDB |
| 5KYD | X-ray | 162 A | A | 208-554 | PDB |
| 5KYE | X-ray | 197 A | A/B | 208-554 | PDB |
| 5KYF | X-ray | 145 A | B | 208-554 | PDB |
| 5N9R | X-ray | 223 A | A/B | 207-560 | PDB |
| 5N9T | X-ray | 173 A | A/B | 207-560 | PDB |
| 5NGE | X-ray | 235 A | A/B | 208-560 | PDB |
| 5NGF | X-ray | 233 A | A/B | 208-560 | PDB |
| 5UQV | X-ray | 284 A | A/B | 208-554 | PDB |
| 5UQX | X-ray | 223 A | A/B | 208-555 | PDB |
| 5VS6 | X-ray | 227 A | A/B | 208-560 | PDB |
| 5VSB | X-ray | 185 A | A/B | 208-560 | PDB |
| 5VSK | X-ray | 333 A | A/B | 208-560 | PDB |
| 5WHC | X-ray | 255 A | A/B | 209-554 | PDB |
| 6F5H | X-ray | 216 A | A/B | 207-560 | PDB |
| 6M1K | X-ray | 225 A | A/B | 208-554 | PDB |
| 6P5L | X-ray | 330 A | A/B | 535-890 | PDB |
| 6VN2 | X-ray | 293 A | A/B | 207-555 | PDB |
| 6VN3 | X-ray | 273 A | A/B | 207-555 | PDB |
| 6VN4 | X-ray | 269 A | A/B | 207-555 | PDB |
| 6VN5 | X-ray | 290 A | A/B | 207-555 | PDB |
| 6VN6 | X-ray | 299 A | A/B | 207-555 | PDB |
| 7CM2 | X-ray | 225 A | A/B | 208-560 | PDB |
| 7VIJ | X-ray | 230 A | A | 560-1083 | PDB |
| 7XHH | X-ray | 210 A | A/B | 207-554 | PDB |
| 7XHK | X-ray | 230 A | B | 211-553 | PDB |
| 7XPY | X-ray | 235 A | A | 560-1102 | PDB |
| 8D4Z | X-ray | 226 A | A/B | 207-560 | PDB |
| AF-Q93009-F1 | Predicted | AlphaFoldDB |
477 variants for Q93009
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs1898245285 RCV001249770 |
53 | N>S | USP7-related neurodevelopmental disorder [ClinVar] | Yes |
ClinVar dbSNP |
|
rs769761004 RCV000735279 CA394705373 |
111 | H>Q | Macrocephaly [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000210289 rs756550597 CA354994 |
143 | Y>* | Hao-Fountain syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
| VAR_086825 | 143 | Y>del | HAFOUS; when expressed in USP7-deficient cells does not rescue defective endosomal protein recycling and reduced F-actin levels [UniProt] | Yes | UniProt |
|
RCV001175170 CA394704280 rs1555465642 VAR_086826 RCV000509482 |
225 | M>I | Hao-Fountain syndrome HAFOUS [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
| VAR_086827 | 345 | E>K | HAFOUS [UniProt] | Yes | UniProt |
|
rs2062011160 RCV001266692 |
348 | Y>H | Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
| VAR_086828 | 373 | L>F | HAFOUS [UniProt] | Yes | UniProt |
| VAR_086829 | 392 | G>D | HAFOUS [UniProt] | Yes | UniProt |
| VAR_086830 | 485 | V>G | HAFOUS [UniProt] | Yes | UniProt |
|
RCV001175168 rs2061808524 |
576 | C>* | Hao-Fountain syndrome [ClinVar] | Yes |
ClinVar dbSNP |
| VAR_086831 | 576 | C>del | HAFOUS [UniProt] | Yes | UniProt |
|
RCV000625999 RCV001175169 rs1555462347 |
723 | R>missing | Hao-Fountain syndrome [ClinVar] | Yes |
ClinVar dbSNP |
| VAR_086832 | 757 | L>P | HAFOUS; unknown pathological significance; the patient also carries a de novo clinically relevant variant in SLC2A1 [UniProt] | Yes | UniProt |
| VAR_086833 | 766 | I>T | HAFOUS [UniProt] | Yes | UniProt |
|
RCV001095726 rs2061656880 RCV002462328 |
1031 | Q>E | USP7-related neurodevelopmental disorder [ClinVar] | Yes |
ClinVar dbSNP |
| VAR_086834 | 1080 | D>N | HAFOUS [UniProt] | Yes | UniProt |
|
CA394693379 COSM1232123 rs1213557591 |
3 | H>Q | large_intestine [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
CA394693385 rs1272991796 |
3 | H>R | No |
ClinGen TOPMed |
|
|
CA277506301 rs901790687 |
3 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
COSM1380634 CA7895909 rs750093857 |
4 | Q>H | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed |
|
CA394693349 rs1333347169 COSM3691282 |
5 | Q>H | large_intestine [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
rs1223248807 CA394693330 |
6 | Q>L | No |
ClinGen TOPMed gnomAD |
|
|
CA394693319 rs1224706884 |
7 | Q>E | No |
ClinGen gnomAD |
|
|
CA394693251 rs1435667134 |
11 | K>Q | No |
ClinGen TOPMed |
|
|
CA394693225 rs1372127093 |
12 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1277447483 CA394693219 |
13 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1324650917 CA394693138 |
18 | S>R | No |
ClinGen gnomAD |
|
|
rs1394655023 CA394693141 |
18 | S>T | No |
ClinGen TOPMed gnomAD |
|
|
rs887172330 CA277506283 |
19 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1005133765 CA277506288 |
19 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1293614426 CA394693134 |
19 | E>Q | No |
ClinGen gnomAD |
|
|
rs1047199606 CA277506276 |
20 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA277506265 rs919912952 |
21 | E>V | No |
ClinGen TOPMed |
|
|
CA277506259 rs867428437 |
22 | D>N | No |
ClinGen gnomAD |
|
|
CA394693086 rs1175764488 |
22 | D>V | No |
ClinGen gnomAD |
|
|
CA394693092 rs867428437 |
22 | D>Y | No |
ClinGen gnomAD |
|
|
rs1248152824 CA394693074 |
23 | M>T | No |
ClinGen TOPMed |
|
|
CA394693083 rs1455760136 |
23 | M>V | No |
ClinGen gnomAD |
|
|
rs1045125836 CA277506252 |
24 | E>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1186067195 CA394693035 |
25 | M>I | No |
ClinGen TOPMed |
|
|
CA394693050 rs1304314616 |
25 | M>V | No |
ClinGen gnomAD |
|
|
CA394693026 rs1389183291 |
26 | E>G | No |
ClinGen TOPMed |
|
|
CA394707825 rs370070575 |
27 | A>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs370070575 CA7895836 COSM1380633 |
27 | A>V | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA277547889 rs1020054806 |
29 | D>V | No |
ClinGen TOPMed |
|
|
rs1197228070 CA394707801 |
31 | D>A | No |
ClinGen gnomAD |
|
|
rs759508713 CA7895834 |
33 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA277547873 rs992972868 |
34 | P>Q | No |
ClinGen Ensembl |
|
|
CA394707781 rs1219502323 |
34 | P>S | No |
ClinGen TOPMed |
|
|
CA394707778 rs1488207861 |
35 | R>G | No |
ClinGen TOPMed |
|
|
CA394707775 rs1280999076 |
35 | R>T | No |
ClinGen gnomAD |
|
|
CA7895832 rs771556702 |
36 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA7895831 rs146962536 |
37 | T>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7895829 rs769574241 |
38 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773653401 CA7895830 |
38 | Q>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7895828 rs747795179 CA394707748 |
39 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA394707750 rs1421415184 |
39 | N>S | No |
ClinGen TOPMed |
|
|
CA394707746 rs1319317174 |
40 | P>A | No |
ClinGen gnomAD |
|
|
rs1156816715 CA394707743 |
40 | P>R | No |
ClinGen TOPMed |
|
|
rs201497079 CA277547780 |
43 | N>S | No |
ClinGen 1000Genomes TOPMed |
|
|
rs768254284 CA7895826 |
46 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA277547743 rs1034639985 |
53 | N>H | No |
ClinGen Ensembl |
|
|
rs750227103 CA394707579 |
55 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7895822 rs750227103 |
55 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs560277695 CA7895821 |
55 | A>V | Variant assessed as Somatic; 9.245e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1221294205 CA394707564 |
56 | E>D | No |
ClinGen gnomAD |
|
|
rs768421982 CA277547707 |
58 | D>Y | No |
ClinGen Ensembl |
|
|
rs1223925831 CA394707526 |
59 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
CA394707514 rs1372192859 |
60 | E>K | No |
ClinGen gnomAD |
|
|
rs1245073527 CA394706352 |
62 | D>G | No |
ClinGen TOPMed |
|
|
rs753015445 CA7895817 |
62 | D>N | No |
ClinGen ExAC |
|
|
CA7895779 rs564927709 |
63 | T>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA7895778 rs777361076 |
64 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs747177984 CA7895776 |
66 | R>L | No |
ClinGen ExAC gnomAD |
|
|
CA394706276 rs1302502113 |
70 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
rs758589839 CA7895774 |
77 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394705764 rs1341264405 |
79 | S>C | No |
ClinGen TOPMed gnomAD |
|
|
CA394705767 rs1341264405 |
79 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
CA394705749 rs1410705244 |
80 | R>K | No |
ClinGen TOPMed |
|
|
CA7895770 rs754262044 |
87 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs761007449 CA7895768 |
88 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA7895767 rs775166718 |
89 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA394705467 rs1184882631 |
103 | P>L | No |
ClinGen gnomAD |
|
|
CA277538980 rs200389222 |
107 | P>A | No |
ClinGen Ensembl |
|
|
CA394705357 rs144116379 |
112 | Q>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA394705361 rs1375455229 |
112 | Q>L | No |
ClinGen TOPMed |
|
| TCGA novel | 114 | S>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 114 | S>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7895758 rs780483368 |
115 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs1350062498 CA394705271 |
119 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
| TCGA novel | 128 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA394704976 rs1347393272 |
131 | S>C | No |
ClinGen gnomAD |
|
|
CA394704957 rs1567225519 |
134 | A>T | No |
ClinGen Ensembl |
|
|
rs770958985 CA394704932 |
138 | L>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7895723 rs749385823 |
140 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1262216962 CA620764648 |
141 | I>* | No |
ClinGen gnomAD |
|
|
CA277536405 rs961744979 |
145 | D>N | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 146 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA277536387 rs1014628338 |
147 | E>D | No |
ClinGen TOPMed |
|
|
rs1282497980 CA394704856 |
148 | K>N | No |
ClinGen gnomAD |
|
|
rs1273656761 CA394704836 |
151 | S>N | No |
ClinGen gnomAD |
|
|
CA394704823 rs1567225460 |
153 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA7895718 rs754646361 |
160 | H>P | No |
ClinGen ExAC gnomAD |
|
|
rs766023368 CA7895716 |
169 | N>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 170 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA394704689 rs1334224039 |
171 | M>L | No |
ClinGen gnomAD |
|
| TCGA novel | 171 | M>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs749891129 CA7895714 |
174 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA7895682 rs372645978 |
176 | V>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7895681 rs769192378 |
177 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 178 | D>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1156582850 CA394704630 |
178 | D>N | No |
ClinGen TOPMed |
|
|
rs373931498 CA277535079 |
179 | P>L | No |
ClinGen ESP TOPMed gnomAD |
|
| TCGA novel | 181 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7895677 rs530191108 |
190 | T>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1419319278 CA394704537 |
190 | T>S | No |
ClinGen TOPMed |
|
|
rs778680603 CA7895676 |
191 | F>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1435707242 CA394704514 |
194 | F>L | No |
ClinGen Ensembl |
|
| TCGA novel | 198 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 208 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7895645 rs760642910 |
213 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs200156369 CA277533105 |
214 | V>I | No |
ClinGen Ensembl |
|
| TCGA novel | 215 | G>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs774794168 CA7895642 |
217 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 223 | C>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs200265162 CA277533029 |
230 | Q>R | No |
ClinGen 1000Genomes |
|
|
CA277532996 rs937161725 |
235 | T>M | No |
ClinGen Ensembl |
|
|
rs781247345 RCV000986176 CA394704188 |
239 | R>* | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
rs758258486 CA7895612 |
244 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs745639108 CA7895611 |
247 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7895608 rs752857703 |
252 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
| TCGA novel | 253 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 262 | R>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA394703937 rs1387771396 |
272 | K>R | No |
ClinGen gnomAD |
|
| TCGA novel | 279 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1300834863 | 279 | L>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 282 | S>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA394703801 rs1183826361 |
290 | S>G | No |
ClinGen gnomAD |
|
|
CA394703729 rs1215472112 |
299 | L>V | No |
ClinGen Ensembl |
|
| TCGA novel | 301 | R>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 305 | D>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs371261156 CA7895546 |
313 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA277527759 rs201852256 |
317 | E>G | No |
ClinGen 1000Genomes |
|
| TCGA novel | 323 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA277527741 rs765536244 |
325 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA277527751 rs765536244 |
325 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
CA7895541 rs747180128 |
327 | K>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 332 | I>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 332 | I>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM1302378 CA394703448 rs1414477841 |
336 | E>K | Variant assessed as Somatic; impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
CA394703430 rs1343926478 |
338 | D>G | No |
ClinGen gnomAD |
|
|
CA277527605 COSM559615 rs944748771 |
340 | R>W | lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
| TCGA novel | 342 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA394703322 rs1416680806 |
353 | S>T | No |
ClinGen gnomAD |
|
|
CA394703276 rs1229878827 |
359 | N>S | No |
ClinGen Ensembl |
|
|
CA7895478 rs749894577 |
361 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs762632614 CA277516408 |
361 | F>S | No |
ClinGen gnomAD |
|
|
CA394703194 rs1352445138 |
369 | A>S | No |
ClinGen gnomAD |
|
|
rs1352445138 CA394703196 |
369 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA394703189 rs1383982134 |
370 | V>I | No |
ClinGen TOPMed |
|
|
CA394703169 rs1567217225 |
372 | Q>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs375864487 CA277516383 |
374 | D>H | No |
ClinGen ESP TOPMed |
|
|
rs375864487 CA394703162 |
374 | D>N | No |
ClinGen ESP TOPMed |
|
| TCGA novel | 375 | G>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 380 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7895473 CA394703091 rs760352754 |
383 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 383 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7895456 rs777564543 |
390 | E>D | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 391 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs755998936 CA7895455 |
396 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA7895453 rs766595112 |
398 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 420 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 423 | D>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1174494552 CA394702197 |
428 | P>S | No |
ClinGen gnomAD |
|
|
rs1596361901 CA394702187 |
429 | E>D | No |
ClinGen Ensembl |
|
|
rs774200982 CA7895422 |
430 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA394702112 rs1479244690 |
440 | T>A | No |
ClinGen TOPMed |
|
| TCGA novel | 440 | T>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 440 | T>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1039637527 CA277512455 |
441 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
CA7895421 rs770435953 |
442 | P>S | No |
ClinGen ExAC |
|
|
CA277512441 rs868290938 |
445 | P>L | No |
ClinGen Ensembl |
|
|
rs748840212 CA7895420 |
449 | I>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 450 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA394702007 rs1347944769 |
456 | H>D | No |
ClinGen Ensembl |
|
|
CA7895416 rs781077969 |
456 | H>L | No |
ClinGen ExAC gnomAD |
|
|
rs1386022252 CA394701893 |
472 | K>R | No |
ClinGen TOPMed |
|
|
rs753971593 CA7895411 |
474 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA7895408 rs753320462 |
476 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA7895409 rs147329800 |
476 | K>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs147329800 CA7895410 |
476 | K>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1424551372 CA394701840 |
478 | C>Y | No |
ClinGen gnomAD |
|
| TCGA novel | 483 | D>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 484 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 488 | C>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA394701723 rs1328043751 |
494 | I>V | No |
ClinGen gnomAD |
|
|
rs1357175448 CA394701698 |
497 | N>S | No |
ClinGen gnomAD |
|
|
CA394701673 rs1245204196 |
501 | H>D | No |
ClinGen TOPMed |
|
|
CA277510996 rs375970067 |
501 | H>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7895382 rs761326339 |
502 | D>N | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 504 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs2061841667 RCV001091965 |
508 | R>* | No |
ClinVar dbSNP |
|
| TCGA novel | 509 | H>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA394701618 rs1161832673 |
509 | H>R | No |
ClinGen gnomAD |
|
|
rs775465927 CA7895377 |
511 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA7895376 rs771825799 |
511 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs1312508442 CA394701598 |
512 | N>S | No |
ClinGen gnomAD |
|
|
CA7895372 rs748273634 |
520 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA394701527 rs1414901969 |
522 | S>A | No |
ClinGen TOPMed |
|
|
rs763719614 CA277509676 |
530 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394701456 rs763719614 |
530 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763719614 COSM180165 CA7895339 |
530 | A>V | Variant assessed as Somatic; 0.0 impact. large_intestine central_nervous_system [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA7895337 rs752181569 |
531 | V>F | No |
ClinGen ExAC gnomAD |
|
|
rs1596359274 CA394701451 |
531 | V>G | No |
ClinGen Ensembl |
|
| TCGA novel | 532 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs767383534 CA7895336 |
532 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs374207468 CA7895335 COSM180164 |
533 | D>N | large_intestine Variant assessed as Somatic; 4.636e-05 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA277509646 rs1054620951 |
534 | H>R | No |
ClinGen TOPMed |
|
|
rs766321600 CA7895333 |
535 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs1445192569 CA394701422 |
536 | I>V | No |
ClinGen gnomAD |
|
| TCGA novel | 538 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7895331 rs777052576 |
538 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs768865469 CA7895330 |
540 | L>M | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 541 | V>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1567212542 CA394701378 |
542 | E>D | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA277509634 rs775600919 |
543 | R>L | No |
ClinGen ExAC gnomAD |
|
|
rs775600919 CA7895328 |
543 | R>Q | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 545 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA394701351 rs1205492244 |
546 | E>D | No |
ClinGen gnomAD |
|
|
CA394701353 rs1216655785 |
546 | E>V | No |
ClinGen gnomAD |
|
|
CA7895327 rs746412580 |
550 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394701290 rs1567212497 |
555 | R>W | No |
ClinGen Ensembl |
|
|
rs1314790441 CA394701286 |
556 | K>Q | No |
ClinGen gnomAD |
|
|
rs1008492376 CA277509605 |
558 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA7895324 rs757672263 |
558 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs1596359159 CA394701255 |
560 | E>G | No |
ClinGen Ensembl |
|
|
CA394701236 rs1298331231 |
563 | L>F | No |
ClinGen gnomAD |
|
|
CA394701227 rs1244772203 |
564 | Y>C | No |
ClinGen gnomAD |
|
|
CA277508422 rs899546223 |
569 | I>V | No |
ClinGen Ensembl |
|
|
CA277508396 rs1038557108 |
570 | V>L | No |
ClinGen Ensembl |
|
|
CA7895287 rs767573729 |
571 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1232121 CA7895288 rs767573729 |
571 | A>T | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs150096079 CA7895284 |
579 | Q>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA394701061 rs1480900512 |
585 | D>G | No |
ClinGen gnomAD |
|
| TCGA novel | 585 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1178806928 CA394701065 |
585 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 586 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA394701041 rs1251891055 |
588 | K>E | No |
ClinGen TOPMed |
|
|
CA7895281 rs770264553 |
591 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs1262966173 CA394701011 |
592 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1449987707 CA394701007 |
592 | T>I | No |
ClinGen gnomAD |
|
|
CA394701008 rs1449987707 |
592 | T>S | No |
ClinGen gnomAD |
|
|
rs1262966173 CA394701010 |
592 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
CA7895280 rs201855673 |
595 | K>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1203882600 CA394700973 |
597 | L>F | No |
ClinGen gnomAD |
|
|
CA394700960 rs1322444938 |
599 | N>S | No |
ClinGen gnomAD |
|
|
rs768357840 COSM165457 CA7895278 |
601 | S>L | breast [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs199609011 CA277508295 |
603 | A>P | No |
ClinGen 1000Genomes gnomAD |
|
|
rs199609011 CA277508294 |
603 | A>S | No |
ClinGen 1000Genomes gnomAD |
|
|
rs540860113 CA7895276 |
603 | A>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs757948670 CA7895275 |
604 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs778702214 CA7895273 |
606 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750439046 CA7895274 |
606 | V>I | No |
ClinGen ExAC |
|
|
rs1306720049 CA394700913 |
607 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
CA7895272 rs757088246 |
608 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs1171047002 CA394700886 |
611 | Q>L | No |
ClinGen gnomAD |
|
|
rs753507187 CA7895271 |
613 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA277507162 rs970860239 |
618 | D>N | No |
ClinGen Ensembl |
|
| TCGA novel | 619 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1023761997 CA277507155 |
619 | Q>E | No |
ClinGen Ensembl |
|
|
CA277507143 rs1012336169 |
621 | R>Q | No |
ClinGen Ensembl |
|
|
rs1399019111 CA394700235 |
627 | A>G | No |
ClinGen TOPMed |
|
|
rs1179569842 CA394700121 |
636 | A>T | No |
ClinGen gnomAD |
|
|
CA394700109 rs1490684867 |
637 | M>V | No |
ClinGen gnomAD |
|
|
rs1321271900 CA394700080 |
639 | D>N | No |
ClinGen gnomAD |
|
|
CA7895220 rs560507838 |
640 | N>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA394700062 rs1220708929 |
641 | E>A | No |
ClinGen gnomAD |
|
|
CA7895217 rs761125187 COSM286411 |
643 | D>N | lung Variant assessed as Somatic; 0.0 impact. large_intestine [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA7895216 rs753071325 |
644 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA7895215 rs370128581 |
645 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs759156719 CA7895214 |
647 | T>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394700001 rs1220345080 |
648 | M>I | No |
ClinGen TOPMed |
|
|
rs762458977 CA7895191 |
648 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA394699996 rs1364889961 |
649 | I>L | No |
ClinGen gnomAD |
|
|
CA394699992 rs113373249 |
649 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1268381437 CA394699994 |
649 | I>T | No |
ClinGen TOPMed |
|
|
CA394699981 rs1470748385 |
651 | L>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs775237317 CA277506725 |
652 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs775237317 CA7895189 |
652 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs1421063569 CA394699937 |
657 | P>S | No |
ClinGen gnomAD |
|
|
rs1421063569 CA394699939 |
657 | P>T | No |
ClinGen gnomAD |
|
|
CA394699921 rs1453488500 |
659 | T>K | No |
ClinGen TOPMed |
|
| TCGA novel | 660 | I>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7895187 rs776602318 |
660 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs200818013 CA277506710 |
665 | V>A | No |
ClinGen 1000Genomes |
|
|
CA7895186 rs768404148 |
665 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA7895185 rs746759407 |
666 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs1310463182 CA394699860 |
669 | L>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1310463182 CA394699859 |
669 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA394699846 rs1275260301 |
671 | A>G | No |
ClinGen gnomAD |
|
|
CA394699826 rs1478213950 |
674 | A>V | No |
ClinGen TOPMed |
|
|
rs112644069 CA277506687 |
676 | L>S | No |
ClinGen Ensembl |
|
|
rs1454855657 CA394699773 |
682 | D>N | No |
ClinGen gnomAD |
|
|
rs771143610 CA7895183 |
682 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA394699752 rs1386731940 |
683 | H>R | No |
ClinGen TOPMed |
|
|
rs915766757 CA277506663 |
683 | H>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1296692572 CA394699732 |
686 | M>V | No |
ClinGen TOPMed |
|
|
rs780521213 CA7895155 |
695 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs1348057437 CA394699652 |
696 | T>M | No |
ClinGen gnomAD |
|
|
CA277505402 rs930883950 |
696 | T>S | No |
ClinGen TOPMed |
|
|
rs548205006 CA7895154 |
697 | R>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 698 | S>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA394699630 rs1381019671 |
700 | N>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs750145582 CA7895153 |
705 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA394699556 rs1223989524 |
710 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA394699552 rs1291722999 |
711 | C>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs371884501 CA7895151 |
712 | K>I | No |
ClinGen ESP ExAC gnomAD |
|
|
CA7895150 rs753346185 |
714 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394699494 rs1423379442 |
718 | P>A | No |
ClinGen TOPMed |
|
|
CA277505233 rs768764601 |
719 | V>L | No |
ClinGen Ensembl |
|
|
CA394699477 rs1430846697 |
720 | M>I | No |
ClinGen gnomAD |
|
|
rs1188408484 CA394699460 |
722 | D>E | No |
ClinGen gnomAD |
|
|
CA394699466 rs1249024986 |
722 | D>H | No |
ClinGen gnomAD |
|
|
rs762143956 CA7895124 |
724 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA7895121 rs760661247 |
728 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394699421 rs1253779507 |
728 | Q>H | No |
ClinGen gnomAD |
|
|
CA277505218 rs967952352 |
729 | D>A | No |
ClinGen TOPMed |
|
|
CA394699414 rs1454215936 |
729 | D>E | No |
ClinGen TOPMed |
|
|
rs967952352 CA394699415 |
729 | D>V | No |
ClinGen TOPMed |
|
|
CA394699408 rs1229489754 |
730 | T>S | No |
ClinGen gnomAD |
|
|
rs1342854825 CA394699375 |
735 | Y>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1342854825 CA394699374 |
735 | Y>F | No |
ClinGen gnomAD |
|
|
rs1377787362 CA394699378 |
735 | Y>H | No |
ClinGen TOPMed |
|
| TCGA novel | 737 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 741 | N>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs780900283 CA7895093 |
749 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA394699247 rs1183913112 |
751 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA7895091 rs747014527 |
752 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs1202896462 CA394699226 |
754 | D>G | No |
ClinGen gnomAD |
|
| TCGA novel | 758 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7895087 rs764397590 |
762 | D>V | No |
ClinGen ExAC |
|
|
CA277504777 rs61736975 |
764 | D>A | No |
ClinGen Ensembl |
|
| TCGA novel | 764 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7895085 rs752882692 |
767 | V>L | No |
ClinGen ExAC gnomAD |
|
| rs1056013336 | 769 | Q>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1415639181 CA394699082 |
772 | D>E | No |
ClinGen gnomAD |
|
|
CA277503812 rs867579274 |
773 | P>L | No |
ClinGen gnomAD |
|
|
CA394699077 rs867579274 |
773 | P>R | No |
ClinGen gnomAD |
|
|
CA7895059 rs776441351 |
776 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA7895057 rs760295224 |
782 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs1335592230 CA394699007 |
783 | A>V | No |
ClinGen TOPMed |
|
|
rs1233500824 CA394698998 |
784 | K>N | No |
ClinGen TOPMed |
|
|
rs1289464601 CA394698970 |
788 | R>Q | No |
ClinGen gnomAD |
|
|
rs778892813 CA7895053 |
789 | D>A | No |
ClinGen ExAC gnomAD |
|
|
rs745855649 CA7895054 |
789 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA394698951 rs1279468582 |
791 | Y>C | No |
ClinGen gnomAD |
|
|
rs1219132622 CA394698945 |
792 | H>Y | No |
ClinGen gnomAD |
|
|
CA394698936 rs1343557524 |
793 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 795 | D>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA394698915 rs1364958541 |
796 | V>A | No |
ClinGen gnomAD |
|
|
CA394698912 rs1449830124 |
797 | I>V | No |
ClinGen gnomAD |
|
|
CA7895048 rs751785158 |
798 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs780040314 CA7895047 |
800 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7895046 rs758501837 |
802 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs1391865790 CA394698863 |
804 | P>A | No |
ClinGen gnomAD |
|
|
CA394698859 rs1179987032 |
804 | P>L | No |
ClinGen TOPMed |
|
| TCGA novel | 806 | D>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA277503738 rs1024523798 |
807 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
rs750953463 CA7895045 |
809 | F>V | No |
ClinGen ExAC gnomAD |
|
|
CA394698816 rs1229177344 |
811 | V>I | No |
ClinGen gnomAD |
|
|
CA394698806 rs1433627689 |
812 | T>M | No |
ClinGen TOPMed |
|
|
CA394698791 rs1484386651 |
815 | N>H | No |
ClinGen gnomAD |
|
|
rs1173046298 CA394698781 |
816 | R>G | No |
ClinGen TOPMed |
|
|
CA394698746 rs1319085921 |
820 | F>C | No |
ClinGen Ensembl |
|
|
CA7895013 rs773131309 |
825 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs1295221475 CA394698677 |
828 | Q>H | No |
ClinGen gnomAD |
|
|
CA7895007 rs779171215 |
831 | N>D | No |
ClinGen ExAC gnomAD |
|
|
rs886327757 CA277503338 |
834 | P>A | No |
ClinGen Ensembl |
|
|
rs757406176 CA7895006 |
835 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs753064549 CA7895002 |
841 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394698330 rs1169032466 |
850 | G>D | No |
ClinGen TOPMed |
|
|
rs1451663216 CA394698304 |
854 | R>K | No |
ClinGen gnomAD |
|
|
CA394698299 rs1567207327 |
855 | H>D | No |
ClinGen Ensembl |
|
|
rs771237858 CA7894965 |
873 | P>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 875 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs764062309 CA277502719 |
882 | K>R | No |
ClinGen Ensembl |
|
|
CA7894935 rs772398924 |
887 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs1415001823 CA394697510 |
897 | I>M | No |
ClinGen gnomAD |
|
|
rs1567207144 CA394697520 |
897 | I>V | No |
ClinGen Ensembl |
|
|
rs77864036 CA277502714 |
899 | L>* | No |
ClinGen Ensembl |
|
|
rs79518720 CA277502711 |
900 | N>T | No |
ClinGen gnomAD |
|
|
rs778367249 CA7894934 |
902 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs140337763 CA7894915 |
908 | I>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA394697207 rs567490269 |
910 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394697191 rs1283714689 |
911 | Y>H | No |
ClinGen gnomAD |
|
| TCGA novel | 911 | Y>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs777463630 CA7894910 |
915 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs1290032365 CA394697057 |
916 | G>A | No |
ClinGen TOPMed |
|
|
CA7894909 rs755680758 |
916 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs918769098 CA277501579 |
919 | R>Q | No |
ClinGen Ensembl |
|
|
CA394696922 rs1246063116 |
923 | E>Q | No |
ClinGen TOPMed |
|
|
CA7894905 rs368894909 |
929 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs982273663 CA277501576 |
930 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA7894903 rs757472416 |
931 | L>P | No |
ClinGen ExAC |
|
|
CA394696774 rs1476991127 |
932 | G>R | No |
ClinGen TOPMed |
|
|
CA7894901 rs557701280 |
934 | K>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1440617810 CA394696756 |
934 | K>T | No |
ClinGen gnomAD |
|
|
rs144102588 CA7894899 |
938 | K>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA7894864 rs147523234 |
947 | Y>C | No |
ClinGen ESP ExAC gnomAD |
|
|
rs752636299 CA277495818 |
950 | I>T | No |
ClinGen Ensembl |
|
|
rs1352181861 CA394696408 |
950 | I>V | No |
ClinGen gnomAD |
|
|
CA7894862 rs777990074 |
951 | G>A | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 951 | G>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1407341599 CA394696335 |
956 | D>G | No |
ClinGen gnomAD |
|
|
CA394696264 rs1187229581 |
960 | E>K | No |
ClinGen gnomAD |
|
|
rs987904914 CA277495799 |
964 | P>A | No |
ClinGen Ensembl |
|
| TCGA novel | 965 | A>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs765762500 CA277495796 |
965 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
CA394696146 rs1480495786 |
966 | T>M | No |
ClinGen TOPMed gnomAD |
|
|
CA394696109 rs752021202 |
969 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7894856 rs766843328 |
969 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752021202 CA7894857 |
969 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs953569164 CA277495748 |
972 | I>T | No |
ClinGen Ensembl |
|
|
rs1008163913 CA277495753 |
972 | I>V | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 974 | E>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA394695939 rs1315313550 |
975 | I>T | No |
ClinGen gnomAD |
|
|
rs746438324 CA7894819 |
975 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1435939941 CA394695854 |
980 | V>L | No |
ClinGen gnomAD |
|
|
rs1230301328 CA394695819 |
982 | I>V | No |
ClinGen TOPMed |
|
|
rs1375207259 CA394695806 |
983 | D>H | No |
ClinGen gnomAD |
|
| TCGA novel | 983 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1314682906 CA394695771 |
985 | E>Q | No |
ClinGen gnomAD |
|
|
rs1192066042 CA394695697 |
993 | A>V | No |
ClinGen gnomAD |
|
|
rs1596346893 CA394695676 |
996 | H>R | No |
ClinGen Ensembl |
|
|
rs1188556536 CA394695672 |
997 | K>Q | No |
ClinGen gnomAD |
|
|
CA277495295 rs1015166324 |
997 | K>R | No |
ClinGen TOPMed |
|
|
CA394695642 rs1206961848 |
1001 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA7894810 rs774275921 |
1011 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA277495267 rs774275921 |
1011 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394695565 rs1355306601 |
1012 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
rs77998839 CA7894778 |
1016 | H>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs77998839 CA7894777 |
1016 | H>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA394695506 rs1225974072 |
1019 | E>K | No |
ClinGen gnomAD |
|
| TCGA novel | 1021 | M>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA394695479 rs1279506046 |
1022 | K>T | No |
ClinGen gnomAD |
|
|
rs751183254 CA7894775 |
1026 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA7894774 rs142143501 |
1026 | S>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1319795215 CA394695385 |
1035 | F>L | No |
ClinGen gnomAD |
|
|
CA7894736 rs745498431 |
1042 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA7894735 rs778348736 |
1044 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs756826814 CA7894734 |
1047 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749245139 CA7894733 CA394695017 |
1049 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394695008 rs1267387155 |
1051 | I>L | No |
ClinGen TOPMed |
|
|
rs1483470814 CA394694997 |
1052 | N>S | No |
ClinGen TOPMed |
|
| TCGA novel | 1053 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs201268930 CA7894731 |
1054 | D>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs371189235 CA7894729 |
1055 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA394694960 rs1457164287 |
1057 | E>A | No |
ClinGen gnomAD |
|
|
rs750643787 CA394694880 |
1063 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 1065 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1441209197 CA394694796 |
1068 | G>S | No |
ClinGen gnomAD |
|
|
rs768021471 CA7894658 |
1069 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs766828801 CA7894655 |
1070 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs751996046 CA7894656 |
1070 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs1234755957 COSM130129 CA394694692 |
1070 | M>V | upper_aerodigestive_tract [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs1416045663 CA394694629 |
1073 | P>S | No |
ClinGen TOPMed |
|
|
rs762752076 CA7894654 |
1074 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA7894650 rs776453439 |
1080 | D>H | No |
ClinGen ExAC |
|
|
CA394694447 rs1437674389 |
1082 | F>L | No |
ClinGen TOPMed |
|
|
CA394694440 rs1175842044 |
1083 | N>H | No |
ClinGen gnomAD |
|
|
rs1021857066 CA277494368 |
1085 | A>V | No |
ClinGen TOPMed |
|
|
CA394694347 rs1325421022 |
1089 | S>N | No |
ClinGen TOPMed |
|
|
CA394694327 rs1245063609 |
1090 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA394694323 rs1183781674 |
1090 | R>L | No |
ClinGen gnomAD |
|
|
rs1285507074 CA394694250 |
1096 | K>E | No |
ClinGen TOPMed |
|
|
CA394694168 rs1229110038 |
1101 | H>R | No |
ClinGen Ensembl |
1 associated diseases with Q93009
[MIM: 616863]: Hao-Fountain syndrome (HAFOUS)
An autosomal dominant neurodevelopmental disorder characterized by global developmental delay, varying degrees of intellectual disability, autism spectrum disorder, poor or absent speech, and mild facial dysmorphism. Most patients develop seizures. Additional variable features include hypotonia, hypogonadism in males, and ocular anomalies. {ECO:0000269|PubMed:26365382, ECO:0000269|PubMed:30679821}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- An autosomal dominant neurodevelopmental disorder characterized by global developmental delay, varying degrees of intellectual disability, autism spectrum disorder, poor or absent speech, and mild facial dysmorphism. Most patients develop seizures. Additional variable features include hypotonia, hypogonadism in males, and ocular anomalies. {ECO:0000269|PubMed:26365382, ECO:0000269|PubMed:30679821}. Note=The disease is caused by variants affecting the gene represented in this entry.
7 regional properties for Q93009
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Peptidase C19, ubiquitin carboxyl-terminal hydrolase | 214 - 518 | IPR001394 |
| domain | MATH/TRAF domain | 68 - 195 | IPR002083 |
| conserved_site | Ubiquitin specific protease, conserved site | 215 - 230 | IPR018200-1 |
| conserved_site | Ubiquitin specific protease, conserved site | 448 - 465 | IPR018200-2 |
| domain | Ubiquitin carboxyl-terminal hydrolase 7, ICP0-binding domain | 620 - 865 | IPR024729 |
| domain | Ubiquitin specific protease domain | 214 - 521 | IPR028889 |
| domain | Ubiquitin carboxyl-terminal hydrolase, C-terminal | 875 - 1086 | IPR029346 |
Functions
| Description | ||
|---|---|---|
| EC Number | 3.4.19.12 | Omega peptidases |
| Subcellular Localization |
|
|
| PANTHER Family | ||
| PANTHER Subfamily | ||
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
7 GO annotations of cellular component
| Name | Definition |
|---|---|
| chromosome | A structure composed of a very long molecule of DNA and associated proteins (e.g. histones) that carries hereditary information. |
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| nuclear body | Extra-nucleolar nuclear domains usually visualized by confocal microscopy and fluorescent antibodies to specific proteins. |
| nucleoplasm | That part of the nuclear content other than the chromosomes or the nucleolus. |
| nucleus | A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent. |
| PML body | A class of nuclear body; they react against SP100 auto-antibodies (PML, promyelocytic leukemia); cells typically contain 10-30 PML bodies per nucleus; alterations in the localization of PML bodies occurs after viral infection. |
| 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. |
7 GO annotations of molecular function
| Name | Definition |
|---|---|
| cysteine-type deubiquitinase activity | An thiol-dependent isopeptidase activity that cleaves ubiquitin from a target protein to which it is conjugated. |
| cysteine-type endopeptidase activity | Catalysis of the hydrolysis of internal, alpha-peptide bonds in a polypeptide chain by a mechanism in which the sulfhydryl group of a cysteine residue at the active center acts as a nucleophile. |
| deubiquitinase activity | An isopeptidase activity that cleaves ubiquitin from a target protein to which it is conjugated. |
| Lys48-specific deubiquitinase activity | Hydrolysis of Lys48-linked ubiquitin unit(s) from a ubiquitinated protein. |
| p53 binding | Binding to one of the p53 family of proteins. |
| protein C-terminus binding | Binding to a protein C-terminus, the end of a peptide chain at which the 1-carboxyl function of a constituent amino acid is not attached in peptide linkage to another amino-acid residue. |
| ubiquitin protein ligase binding | Binding to a ubiquitin protein ligase enzyme, any of the E3 proteins. |
20 GO annotations of biological process
| Name | Definition |
|---|---|
| histone H2B conserved C-terminal lysine deubiquitination | A histone deubiquitination process in which a ubiquitin monomer is removed from a conserved lysine residue in the C-terminus of histone H2B. The conserved lysine residue is K119 in fission yeast, K123 in budding yeast, or K120 in mammals. |
| maintenance of DNA methylation | Any process involved in maintaining the methylation state of a nucleotide sequence. |
| monoubiquitinated protein deubiquitination | The removal of the ubiquitin group from a monoubiquitinated protein. |
| negative regulation of NF-kappaB transcription factor activity | Any process that stops, prevents, or reduces the frequency, rate or extent of the activity of the transcription factor NF-kappaB. |
| negative regulation of proteasomal ubiquitin-dependent protein catabolic process | Any process that stops, prevents, or reduces the frequency, rate or extent of the breakdown of a protein or peptide by hydrolysis of its peptide bonds, initiated by the covalent attachment of ubiquitin, and mediated by the proteasome. |
| positive regulation of DNA demethylation | Any process that activates or increases the frequency, rate or extent of DNA demethylation. |
| protein deubiquitination | The removal of one or more ubiquitin groups from a protein. |
| protein K63-linked deubiquitination | A protein deubiquitination process in which a K63-linked ubiquitin chain, i.e. a polymer of ubiquitin formed by linkages between lysine residues at position 63 of the ubiquitin monomers, is removed from a protein. |
| protein stabilization | Any process involved in maintaining the structure and integrity of a protein and preventing it from degradation or aggregation. |
| protein ubiquitination | The process in which one or more ubiquitin groups are added to a protein. |
| regulation of circadian rhythm | Any process that modulates the frequency, rate or extent of a circadian rhythm. A circadian rhythm is a biological process in an organism that recurs with a regularity of approximately 24 hours. |
| regulation of DNA-binding transcription factor activity | Any process that modulates the frequency, rate or extent of the activity of a transcription factor, any factor involved in the initiation or regulation of transcription. |
| regulation of gluconeogenesis | Any process that modulates the frequency, rate or extent of gluconeogenesis, the formation of glucose from noncarbohydrate precursors, such as pyruvate, amino acids and glycerol. |
| regulation of protein stability | Any process that affects the structure and integrity of a protein, altering the likelihood of its degradation or aggregation. |
| regulation of retrograde transport, endosome to Golgi | Any process that modulates the frequency, rate or extent of retrograde transport, endosome to Golgi. |
| regulation of signal transduction by p53 class mediator | Any process that modulates the frequency, rate or extent of signal transduction by p53 class mediator. |
| regulation of telomere capping | Any process that modulates the frequency, rate or extent of telomere capping. |
| rhythmic process | Any process pertinent to the generation and maintenance of rhythms in the physiology of an organism. |
| transcription-coupled nucleotide-excision repair | The nucleotide-excision repair process that carries out preferential repair of DNA lesions on the actively transcribed strand of the DNA duplex. In addition, the transcription-coupled nucleotide-excision repair pathway is required for the recognition and repair of a small subset of lesions that are not recognized by the global genome nucleotide excision repair pathway. |
| 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. |
7 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| P50101 | UBP15 | Ubiquitin carboxyl-terminal hydrolase 15 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast) | PR |
| Q9UHP3 | USP25 | Ubiquitin carboxyl-terminal hydrolase 25 | Homo sapiens (Human) | EV |
| Q96K76 | USP47 | Ubiquitin carboxyl-terminal hydrolase 47 | Homo sapiens (Human) | PR |
| Q92995 | USP13 | Ubiquitin carboxyl-terminal hydrolase 13 | Homo sapiens (Human) | PR |
| P45974 | USP5 | Ubiquitin carboxyl-terminal hydrolase 5 | Homo sapiens (Human) | PR |
| P57080 | Usp25 | Ubiquitin carboxyl-terminal hydrolase 25 | Mus musculus (Mouse) | SS |
| Q6A4J8 | Usp7 | Ubiquitin carboxyl-terminal hydrolase 7 | Mus musculus (Mouse) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MNHQQQQQQQ | KAGEQQLSEP | EDMEMEAGDT | DDPPRITQNP | VINGNVALSD | GHNTAEEDME |
| 70 | 80 | 90 | 100 | 110 | 120 |
| DDTSWRSEAT | FQFTVERFSR | LSESVLSPPC | FVRNLPWKIM | VMPRFYPDRP | HQKSVGFFLQ |
| 130 | 140 | 150 | 160 | 170 | 180 |
| CNAESDSTSW | SCHAQAVLKI | INYRDDEKSF | SRRISHLFFH | KENDWGFSNF | MAWSEVTDPE |
| 190 | 200 | 210 | 220 | 230 | 240 |
| KGFIDDDKVT | FEVFVQADAP | HGVAWDSKKH | TGYVGLKNQG | ATCYMNSLLQ | TLFFTNQLRK |
| 250 | 260 | 270 | 280 | 290 | 300 |
| AVYMMPTEGD | DSSKSVPLAL | QRVFYELQHS | DKPVGTKKLT | KSFGWETLDS | FMQHDVQELC |
| 310 | 320 | 330 | 340 | 350 | 360 |
| RVLLDNVENK | MKGTCVEGTI | PKLFRGKMVS | YIQCKEVDYR | SDRREDYYDI | QLSIKGKKNI |
| 370 | 380 | 390 | 400 | 410 | 420 |
| FESFVDYVAV | EQLDGDNKYD | AGEHGLQEAE | KGVKFLTLPP | VLHLQLMRFM | YDPQTDQNIK |
| 430 | 440 | 450 | 460 | 470 | 480 |
| INDRFEFPEQ | LPLDEFLQKT | DPKDPANYIL | HAVLVHSGDN | HGGHYVVYLN | PKGDGKWCKF |
| 490 | 500 | 510 | 520 | 530 | 540 |
| DDDVVSRCTK | EEAIEHNYGG | HDDDLSVRHC | TNAYMLVYIR | ESKLSEVLQA | VTDHDIPQQL |
| 550 | 560 | 570 | 580 | 590 | 600 |
| VERLQEEKRI | EAQKRKERQE | AHLYMQVQIV | AEDQFCGHQG | NDMYDEEKVK | YTVFKVLKNS |
| 610 | 620 | 630 | 640 | 650 | 660 |
| SLAEFVQSLS | QTMGFPQDQI | RLWPMQARSN | GTKRPAMLDN | EADGNKTMIE | LSDNENPWTI |
| 670 | 680 | 690 | 700 | 710 | 720 |
| FLETVDPELA | ASGATLPKFD | KDHDVMLFLK | MYDPKTRSLN | YCGHIYTPIS | CKIRDLLPVM |
| 730 | 740 | 750 | 760 | 770 | 780 |
| CDRAGFIQDT | SLILYEEVKP | NLTERIQDYD | VSLDKALDEL | MDGDIIVFQK | DDPENDNSEL |
| 790 | 800 | 810 | 820 | 830 | 840 |
| PTAKEYFRDL | YHRVDVIFCD | KTIPNDPGFV | VTLSNRMNYF | QVAKTVAQRL | NTDPMLLQFF |
| 850 | 860 | 870 | 880 | 890 | 900 |
| KSQGYRDGPG | NPLRHNYEGT | LRDLLQFFKP | RQPKKLYYQQ | LKMKITDFEN | RRSFKCIWLN |
| 910 | 920 | 930 | 940 | 950 | 960 |
| SQFREEEITL | YPDKHGCVRD | LLEECKKAVE | LGEKASGKLR | LLEIVSYKII | GVHQEDELLE |
| 970 | 980 | 990 | 1000 | 1010 | 1020 |
| CLSPATSRTF | RIEEIPLDQV | DIDKENEMLV | TVAHFHKEVF | GTFGIPFLLR | IHQGEHFREV |
| 1030 | 1040 | 1050 | 1060 | 1070 | 1080 |
| MKRIQSLLDI | QEKEFEKFKF | AIVMMGRHQY | INEDEYEVNL | KDFEPQPGNM | SHPRPWLGLD |
| 1090 | 1100 | ||||
| HFNKAPKRSR | YTYLEKAIKI | HN |