Q9NYS7
PR
Gene name |
WSB2 |
Protein name |
WD repeat and SOCS box-containing protein 2 |
Names |
WSB-2, CS box-containing WD protein |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:55884 |
EC number |
|
Protein Class |
|
Descriptions
The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.
Autoinhibitory domains (AIDs)
Target domain |
|
Relief mechanism |
|
Assay |
cis-regPred |
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
1 structures for Q9NYS7
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q9NYS7-F1 | Predicted | AlphaFoldDB |
211 variants for Q9NYS7
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA386522856 rs1263044977 |
5 | E>K | No |
ClinGen TOPMed |
|
|
CA386521955 rs1379075563 |
6 | E>D | No |
ClinGen TOPMed |
|
|
rs781758614 CA6817176 |
7 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA386521950 rs1322477603 |
7 | P>S | No |
ClinGen gnomAD |
|
|
CA244294940 rs1037592255 |
11 | A>D | No |
ClinGen Ensembl |
|
|
CA386521908 rs761537318 |
12 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761537318 CA6817172 |
12 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775451028 CA6817168 |
16 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs145072233 CA6817166 |
17 | R>C | No |
ClinGen ESP ExAC gnomAD |
|
|
rs774503067 CA6817165 |
17 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1210289241 CA386521843 |
18 | P>L | No |
ClinGen gnomAD |
|
|
rs1465385812 CA386521730 |
27 | C>Y | No |
ClinGen Ensembl |
|
|
CA244294928 rs368891609 |
29 | T>I | No |
ClinGen ESP |
|
|
rs917833458 CA244294924 |
32 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs200647044 CA6817160 |
33 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1467700278 CA386521642 |
34 | F>L | No |
ClinGen gnomAD |
|
|
rs1430746477 CA386521565 |
40 | W>C | No |
ClinGen gnomAD |
|
|
rs1176600038 CA386521500 |
45 | Q>R | No |
ClinGen TOPMed |
|
|
rs755524304 CA386521460 |
49 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs533366265 CA6817157 |
50 | V>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA386521438 rs1428434570 |
51 | K>R | No |
ClinGen gnomAD |
|
|
rs926419163 CA244294907 |
56 | P>L | No |
ClinGen TOPMed |
|
|
CA6817152 rs760533303 |
60 | Q>L | No |
ClinGen ExAC gnomAD |
|
|
CA386521313 rs1209743372 |
61 | F>S | No |
ClinGen gnomAD |
|
|
CA6817130 rs751562179 |
62 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs766194417 CA6817129 |
64 | K>E | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 66 | F>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs763159456 CA6817128 |
68 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs765345901 CA386545790 |
71 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386545791 rs765345901 |
71 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765345901 CA6817126 |
71 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1566138655 CA386545782 |
72 | S>R | No |
ClinGen Ensembl |
|
|
rs762127065 CA6817125 |
74 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA386545763 rs928622265 |
75 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs928622265 CA244311153 |
75 | N>T | No |
ClinGen TOPMed gnomAD |
|
|
rs769162899 CA6817123 |
76 | E>V | No |
ClinGen ExAC gnomAD |
|
|
CA6817122 rs747308202 |
77 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386545741 rs1413630420 |
78 | K>N | No |
ClinGen gnomAD |
|
|
CA6817118 rs777270301 |
80 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs550650687 CA6817119 COSM1359171 |
80 | R>W | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA386545726 TCGA novel rs1467073229 |
81 | G>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen gnomAD NCI-TCGA |
|
CA386545723 rs1229006821 |
82 | S>G | No |
ClinGen gnomAD |
|
|
CA386545717 CA386545718 rs1331352432 |
82 | S>R | No |
ClinGen gnomAD |
|
|
CA6817115 rs780802086 |
83 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs766397606 CA6817112 |
87 | T>M | No |
ClinGen ExAC gnomAD |
|
|
rs1439236950 CA386545681 |
88 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1321813172 CA386545660 |
91 | G>R | No |
ClinGen gnomAD |
|
|
rs750304066 CA6817110 |
96 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1439700535 CA386545575 |
103 | P>H | No |
ClinGen TOPMed |
|
|
rs754156594 CA6817107 |
104 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs768369761 CA244311031 |
105 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA386545565 rs768369761 |
105 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
CA6817106 rs201907723 |
106 | P>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA386545556 rs201907723 |
106 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1209299425 CA386545560 |
106 | P>S | No |
ClinGen gnomAD |
|
|
rs1282211420 CA386545554 |
107 | S>G | No |
ClinGen gnomAD |
|
|
rs1354830542 CA386545545 |
108 | R>K | No |
ClinGen TOPMed |
|
|
CA386545544 rs1354830542 |
108 | R>T | No |
ClinGen TOPMed |
|
|
rs772414801 CA6817103 |
111 | W>G | No |
ClinGen ExAC gnomAD |
|
|
CA6817104 rs772414801 |
111 | W>R | No |
ClinGen ExAC gnomAD |
|
|
CA386545519 rs1276844019 |
112 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA6817102 rs368540564 |
113 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs774792520 CA6817101 |
113 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs1298926189 CA386545504 |
114 | H>L | No |
ClinGen gnomAD |
|
|
CA386545498 rs1325274645 |
115 | H>P | No |
ClinGen gnomAD |
|
|
CA244310992 rs545549452 |
115 | H>Y | No |
ClinGen Ensembl |
|
|
CA6817100 rs374539278 |
116 | P>R | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1399629223 CA386545485 |
117 | Q>R | No |
ClinGen gnomAD |
|
|
rs989691954 CA244310968 |
119 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs113350351 COSM3416527 CA6817098 |
120 | D>N | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA386545422 rs1192492282 |
127 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
CA6817093 rs750405602 |
131 | N>H | No |
ClinGen ExAC gnomAD |
|
|
CA386545395 rs1231146274 |
132 | D>N | No |
ClinGen gnomAD |
|
|
rs1195134714 CA386545335 |
137 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA6817069 rs756173373 |
144 | L>F | No |
ClinGen ExAC |
|
|
rs767750979 CA6817067 |
145 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs755399702 CA6817066 |
147 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs751905316 CA6817065 |
150 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA386545154 rs1356377717 |
151 | G>S | No |
ClinGen TOPMed |
|
|
rs773669341 CA6817062 COSM1195993 |
155 | V>I | lung [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs928674821 CA244310536 |
157 | R>G | No |
ClinGen TOPMed |
|
|
CA386545112 rs1189060081 |
157 | R>K | No |
ClinGen TOPMed |
|
|
CA6817060 rs760208697 |
158 | D>Y | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 159 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs115911603 RCV000957122 CA6817059 |
162 | T>A | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA386545072 rs1278724807 |
163 | P>L | No |
ClinGen gnomAD |
|
|
rs771744404 CA6817058 |
163 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs200105998 CA244310520 |
169 | L>F | No |
ClinGen Ensembl |
|
|
CA386545013 rs1396508625 |
172 | A>T | No |
ClinGen gnomAD |
|
|
CA6817056 rs774293317 |
172 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs749263706 CA6817054 |
173 | S>L | No |
ClinGen ExAC gnomAD |
|
|
rs1028275613 CA244310508 |
176 | K>R | No |
ClinGen Ensembl |
|
|
rs756191937 CA6817052 |
178 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs781325042 CA6817050 |
179 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA6817049 rs536208650 |
180 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1159301875 CA386544574 |
185 | K>R | No |
ClinGen TOPMed |
|
| rs751709403 | 186 | H>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1277916175 CA386543386 |
187 | G>D | No |
ClinGen gnomAD |
|
|
rs780226068 CA6817030 |
188 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA386543344 rs1307949281 |
189 | Q>P | No |
ClinGen gnomAD |
|
|
CA6817029 rs758801638 |
192 | V>G | No |
ClinGen ExAC |
|
|
CA386543296 rs1566136601 |
192 | V>M | No |
ClinGen Ensembl |
|
|
CA6817028 rs201689442 |
194 | S>L | No |
ClinGen ExAC gnomAD |
|
|
rs1566136581 CA386543207 |
198 | Q>L | No |
ClinGen Ensembl |
|
|
rs1203474490 CA386543194 |
199 | W>* | No |
ClinGen gnomAD |
|
|
rs1313613625 CA386543077 |
205 | I>V | No |
ClinGen gnomAD |
|
|
rs754260539 CA6817025 |
209 | C>S | No |
ClinGen ExAC gnomAD |
|
|
rs767157940 CA6817024 |
210 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6817023 rs532916232 |
215 | A>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1168980856 CA386542862 |
216 | A>T | No |
ClinGen gnomAD |
|
|
CA6817022 rs751301258 |
217 | G>A | No |
ClinGen ExAC TOPMed |
|
|
CA6817021 rs766128534 |
219 | K>N | No |
ClinGen ExAC gnomAD |
|
| rs1188127984 | 220 | S>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs762716712 CA6817020 |
220 | S>A | No |
ClinGen ExAC |
|
|
CA6817019 rs773071261 COSM935673 |
220 | S>L | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA386542676 rs1415163489 |
222 | F>I | No |
ClinGen gnomAD |
|
|
rs1186812820 CA386542660 |
223 | L>P | No |
ClinGen gnomAD |
|
|
rs765927222 CA6817004 |
230 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6817002 rs750000255 |
233 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA6817001 rs765098048 |
234 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
CA6817000 rs761490694 |
235 | L>I | No |
ClinGen ExAC gnomAD |
|
|
CA386542504 rs1292799648 |
237 | G>S | No |
ClinGen gnomAD |
|
|
CA6816999 rs776589314 |
239 | Q>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
| TCGA novel | 240 | S>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1391188142 CA386542426 |
243 | V>A | No |
ClinGen gnomAD |
|
|
rs1395775825 CA386542413 |
244 | S>C | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 244 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs760800697 CA6816997 |
246 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA6816993 rs778982084 |
250 | D>N | No |
ClinGen ExAC |
|
|
rs1453992370 CA386542321 |
251 | S>A | No |
ClinGen gnomAD |
|
|
rs1418314739 CA386542174 |
258 | S>F | No |
ClinGen gnomAD |
|
|
CA6816991 rs778484500 |
259 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
rs1200362658 CA386542141 |
260 | D>N | No |
ClinGen TOPMed |
|
|
rs756706012 CA6816989 |
261 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA6816987 rs779739161 |
262 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs757793610 CA6816986 |
263 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6816983 rs559591879 |
265 | M>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs745822746 CA6816984 |
265 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 265 | M>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs745822746 CA244305668 |
265 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386541865 rs1306154460 |
270 | T>N | No |
ClinGen gnomAD |
|
|
CA6816978 rs532558348 |
273 | R>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs372181768 CA6816977 |
273 | R>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6816976 rs774705379 |
275 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA6816974 rs749466544 |
277 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs1452481935 CA386541655 |
278 | H>R | No |
ClinGen gnomAD |
|
|
rs763296549 CA6816954 |
282 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs1593461426 CA386541262 |
283 | D>A | No |
ClinGen Ensembl |
|
|
rs371908533 CA6816953 |
283 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs781441613 CA244305183 |
285 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781441613 CA6816951 |
285 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781441613 CA6816950 |
285 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747489506 CA6816948 |
286 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs1216799403 CA386541217 |
286 | M>L | No |
ClinGen gnomAD |
|
|
CA386541197 rs1329590261 |
286 | M>T | No |
ClinGen TOPMed |
|
|
CA6816947 rs778289414 |
289 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs748989960 CA386541092 |
290 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6816946 rs34549466 |
290 | D>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA386541079 rs1412648243 |
291 | V>D | No |
ClinGen gnomAD |
|
|
rs766702574 CA6816944 |
291 | V>I | Variant assessed as Somatic; 9.24e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 292 | H>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs755973915 CA386541005 |
293 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs558504911 CA6816942 |
295 | S>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs949618959 CA244305157 |
298 | S>A | No |
ClinGen TOPMed gnomAD |
|
|
CA244305156 rs914153035 |
298 | S>C | No |
ClinGen Ensembl |
|
|
CA386540790 rs1319534034 |
301 | F>V | No |
ClinGen TOPMed |
|
|
CA386540749 rs1169988840 |
302 | S>F | No |
ClinGen gnomAD |
|
|
CA6816940 rs754879721 |
305 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA386540655 rs1472614283 |
306 | L>F | No |
ClinGen gnomAD |
|
|
rs374860011 CA244305150 |
306 | L>W | No |
ClinGen ESP TOPMed |
|
|
rs1233813297 CA386540653 |
307 | Y>H | No |
ClinGen gnomAD |
|
|
rs770115903 CA6816938 |
310 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762163611 CA244305134 |
312 | A>V | No |
ClinGen Ensembl |
|
|
CA386540370 rs1379813033 |
315 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
CA6816919 rs565161300 |
321 | A>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 322 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA386540229 rs1593461105 |
324 | L>V | No |
ClinGen Ensembl |
|
|
CA6816916 rs754049741 |
326 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs117882038 CA6816917 |
326 | T>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs761071374 CA6816914 |
328 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA386540129 rs1380046425 |
329 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs768001950 CA6816912 |
331 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs759983078 CA6816911 |
332 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6816909 rs376406600 |
333 | M>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6816910 rs370416239 |
333 | M>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs370416239 CA386540077 |
333 | M>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6816907 rs776322376 |
340 | T>K | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 343 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA386539830 rs1234761017 |
344 | H>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1349876333 CA386539822 |
344 | H>R | No |
ClinGen gnomAD |
|
|
rs1356800072 CA386538825 |
352 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
CA6816878 rs777660616 |
355 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs199743615 CA6816876 |
357 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1204615455 CA386538641 |
361 | T>R | No |
ClinGen TOPMed |
|
|
rs767895456 CA6816875 |
364 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs766902724 CA6816872 |
367 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386538478 rs1566134588 |
369 | L>P | No |
ClinGen Ensembl |
|
|
rs763443886 CA6816869 |
374 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA6816868 rs760406844 |
378 | R>* | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 378 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA386538136 rs1488956422 |
384 | Y>H | No |
ClinGen gnomAD |
|
|
CA386538066 rs1338982150 |
386 | V>I | No |
ClinGen gnomAD |
|
|
CA6816867 rs775233620 |
387 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1329935548 CA386537999 |
390 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
CA386537994 rs1329935548 |
390 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs973838705 CA244304711 |
391 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs774489730 CA6816864 |
392 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770916551 CA6816863 |
395 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6816861 rs572067248 |
402 | R>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6816859 rs748421849 |
404 | F>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 405 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
No associated diseases with Q9NYS7
8 regional properties for Q9NYS7
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | SOCS box domain | 360 - 404 | IPR001496 |
| repeat | WD40 repeat | 81 - 184 | IPR001680-1 |
| repeat | WD40 repeat | 186 - 323 | IPR001680-2 |
| repeat | WD40 repeat | 324 - 361 | IPR001680-3 |
| conserved_site | WD40 repeat, conserved site | 169 - 183 | IPR019775 |
| repeat | G-protein beta WD-40 repeat | 126 - 140 | IPR020472-1 |
| repeat | G-protein beta WD-40 repeat | 169 - 183 | IPR020472-2 |
| repeat | G-protein beta WD-40 repeat | 254 - 268 | IPR020472-3 |
1 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
No GO annotations of molecular function
| Name | Definition |
|---|---|
| No GO annotations for molecular function |
2 GO annotations of biological process
| Name | Definition |
|---|---|
| intracellular signal transduction | The process in which a signal is passed on to downstream components within the cell, which become activated themselves to further propagate the signal and finally trigger a change in the function or state of the cell. |
| protein polyubiquitination | Addition of multiple ubiquitin groups to a protein, forming a ubiquitin chain. |
12 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q0V8J1 | WSB2 | WD repeat and SOCS box-containing protein 2 | Bos taurus (Bovine) | PR |
| Q6ZMY6 | WDR88 | WD repeat-containing protein 88 | Homo sapiens (Human) | PR |
| Q8N157 | AHI1 | Jouberin | Homo sapiens (Human) | PR |
| Q8TEB1 | DCAF11 | DDB1- and CUL4-associated factor 11 | Homo sapiens (Human) | PR |
| Q5F201 | Cfap52 | Cilia- and flagella-associated protein 52 | Mus musculus (Mouse) | PR |
| Q8K3E5 | Ahi1 | Jouberin | Mus musculus (Mouse) | PR |
| A6H603 | Nwd1 | NACHT domain- and WD repeat-containing protein 1 | Mus musculus (Mouse) | PR |
| O54929 | Wsb2 | WD repeat and SOCS box-containing protein 2 | Mus musculus (Mouse) | PR |
| Q23256 | wdr-5.3 | WD repeat-containing protein wdr-5.3 | Caenorhabditis elegans | PR |
| Q94AI7 | TPL | Protein TOPLESS | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q0WV90 | TPR1 | Topless-related protein 1 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9LRZ0 | TPR2 | Topless-related protein 2 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MEAGEEPLLL | AELKPGRPHQ | FDWKSSCETW | SVAFSPDGSW | FAWSQGHCIV | KLIPWPLEEQ |
| 70 | 80 | 90 | 100 | 110 | 120 |
| FIPKGFEAKS | RSSKNETKGR | GSPKEKTLDC | GQIVWGLAFS | PWPSPPSRKL | WARHHPQVPD |
| 130 | 140 | 150 | 160 | 170 | 180 |
| VSCLVLATGL | NDGQIKIWEV | QTGLLLLNLS | GHQDVVRDLS | FTPSGSLILV | SASRDKTLRI |
| 190 | 200 | 210 | 220 | 230 | 240 |
| WDLNKHGKQI | QVLSGHLQWV | YCCSISPDCS | MLCSAAGEKS | VFLWSMRSYT | LIRKLEGHQS |
| 250 | 260 | 270 | 280 | 290 | 300 |
| SVVSCDFSPD | SALLVTASYD | TNVIMWDPYT | GERLRSLHHT | QVDPAMDDSD | VHISSLRSVC |
| 310 | 320 | 330 | 340 | 350 | 360 |
| FSPEGLYLAT | VADDRLLRIW | ALELKTPIAF | APMTNGLCCT | FFPHGGVIAT | GTRDGHVQFW |
| 370 | 380 | 390 | 400 | ||
| TAPRVLSSLK | HLCRKALRSF | LTTYQVLALP | IPKKMKEFLT | YRTF |