Q9ULX3
Gene name |
NOB1 (ART4, NOB1P, PSMD8BP1, MSTP158) |
Protein name |
RNA-binding protein NOB1 |
Names |
Phosphorylation regulatory protein HP-10, Protein ART-4 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:28987 |
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
14 structures for Q9ULX3
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 6G18 | EM | 360 A | y | 1-412 | PDB |
| 6G4S | EM | 400 A | y | 1-412 | PDB |
| 6G51 | EM | 410 A | y | 1-412 | PDB |
| 6G53 | EM | 450 A | y | 1-412 | PDB |
| 6G5I | EM | 350 A | y | 1-412 | PDB |
| 6ZUO | EM | 310 A | y | 1-412 | PDB |
| 6ZXD | EM | 320 A | y | 1-412 | PDB |
| 6ZXE | EM | 300 A | y | 1-412 | PDB |
| 6ZXF | EM | 370 A | y | 1-412 | PDB |
| 7WTW | EM | 320 A | y | 1-412 | PDB |
| 7WTX | EM | 310 A | y | 1-412 | PDB |
| 7WTZ | EM | 300 A | y | 1-412 | PDB |
| 7WU0 | EM | 330 A | y | 1-412 | PDB |
| AF-Q9ULX3-F1 | Predicted | AlphaFoldDB |
432 variants for Q9ULX3
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA396503212 rs1221169615 |
2 | A>D | No |
ClinGen TOPMed gnomAD |
|
|
CA396503210 rs1221169615 |
2 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA396503209 rs1567645274 |
3 | P>A | No |
ClinGen Ensembl |
|
|
rs779746015 CA8136886 |
3 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA396503200 rs1303417754 |
4 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
CA396503199 rs1303417754 |
4 | V>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1370315314 CA396503194 |
5 | E>A | No |
ClinGen TOPMed gnomAD |
|
|
CA396503196 rs1370315314 |
5 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
CA283396908 rs573473324 |
5 | E>K | No |
ClinGen 1000Genomes |
|
|
CA8136885 rs371086568 |
6 | H>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8136883 rs148444486 CA396503185 |
6 | H>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8136884 rs371086568 |
6 | H>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA283396895 rs1019734193 |
7 | V>L | No |
ClinGen TOPMed |
|
|
CA396503157 rs763123715 |
9 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8136882 rs763123715 |
9 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765530372 CA396503132 |
11 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs765530372 CA8136880 |
11 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs561570866 CA8136879 |
12 | G>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1230946335 CA396503115 |
13 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1206442278 CA396503107 |
13 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs777010192 CA283396862 |
14 | F>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA396503102 rs1277862380 |
14 | F>V | No |
ClinGen gnomAD |
|
|
rs777010192 CA8136878 |
14 | F>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1227385239 CA396503082 |
16 | R>W | No |
ClinGen gnomAD |
|
|
CA396503065 rs1278081687 |
17 | H>L | No |
ClinGen TOPMed gnomAD |
|
|
CA396503071 rs1370818453 |
17 | H>Y | No |
ClinGen gnomAD |
|
|
rs1444828755 CA396503059 |
18 | A>T | No |
ClinGen gnomAD |
|
|
CA283396843 rs868569248 |
18 | A>V | No |
ClinGen gnomAD |
|
|
CA283396836 rs995350853 |
19 | A>V | No |
ClinGen Ensembl |
|
|
rs149323142 CA396503023 |
21 | Q>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8136875 rs149323142 |
21 | Q>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA283396597 rs775032781 |
22 | D>E | No |
ClinGen TOPMed |
|
|
CA396502930 rs1359930148 |
24 | G>R | No |
ClinGen gnomAD |
|
|
CA8136855 rs773802175 |
25 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA8136854 rs768064932 |
30 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA8136852 rs534370822 |
31 | R>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs534370822 CA396502837 |
31 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs769562492 CA8136853 |
31 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs745638211 CA8136850 |
34 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA396502795 rs1421005354 |
35 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1421005354 CA396502796 |
35 | T>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1487915709 CA396502771 |
37 | I>L | No |
ClinGen gnomAD |
|
|
rs1382529224 CA396502765 |
37 | I>T | No |
ClinGen TOPMed |
|
|
rs866099272 CA283396577 |
38 | R>Q | No |
ClinGen Ensembl |
|
|
CA396502727 rs1220656545 |
40 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
CA8136848 rs548876427 |
40 | K>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA283396567 rs1000859047 |
41 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
COSM704350 CA396502705 rs1281112665 |
42 | T>I | lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
rs746961475 CA8136846 |
43 | R>L | No |
ClinGen ExAC gnomAD |
|
|
rs757218713 CA8136847 |
43 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755017627 CA8136844 |
45 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA396502667 rs1597619266 |
46 | L>V | No |
ClinGen Ensembl |
|
|
rs754016683 CA8136843 |
47 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA283396516 rs1014453392 |
47 | A>V | No |
ClinGen TOPMed |
|
|
CA396502652 rs1246576366 |
48 | V>L | No |
ClinGen TOPMed |
|
|
rs1425224816 CA396502625 |
51 | Y>C | No |
ClinGen TOPMed |
|
|
CA396502614 rs1297445413 |
52 | E>A | No |
ClinGen gnomAD |
|
|
CA396502595 rs1470980097 |
54 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA283396489 rs376699080 |
54 | R>W | No |
ClinGen gnomAD |
|
|
rs1597619243 CA396502590 |
55 | F>V | No |
ClinGen Ensembl |
|
|
CA8136838 rs200769662 |
56 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA396502563 rs1426647057 |
57 | E>G | No |
ClinGen gnomAD |
|
|
CA396502547 rs1386262014 |
59 | L>V | No |
ClinGen TOPMed |
|
|
rs745661273 CA283396476 |
60 | P>L | No |
ClinGen gnomAD |
|
|
CA396502533 rs745661273 |
60 | P>R | No |
ClinGen gnomAD |
|
|
CA8136837 rs774845473 |
60 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA8136836 rs377181676 |
62 | Y>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8136835 rs762361319 |
63 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769303366 CA8136833 |
64 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8136834 rs373593608 |
64 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1247780048 CA396502009 |
68 | E>D | No |
ClinGen TOPMed |
|
|
rs144970081 CA8136810 |
71 | K>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA283394646 rs372860357 |
72 | K>E | No |
ClinGen ESP TOPMed |
|
|
CA283394631 rs888946950 |
73 | T>I | No |
ClinGen TOPMed |
|
|
rs888946950 CA396501975 |
73 | T>R | No |
ClinGen TOPMed |
|
|
CA396501966 rs1567644537 |
74 | G>A | No |
ClinGen Ensembl |
|
|
CA8136809 rs773108247 |
74 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs1597618373 CA396501962 |
75 | D>N | No |
ClinGen Ensembl |
|
| TCGA novel | 75 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8136806 rs779940271 |
76 | Y>S | No |
ClinGen ExAC gnomAD |
|
|
rs1261175053 CA396501925 |
77 | P>L | No |
ClinGen gnomAD |
|
|
CA283394581 rs370088586 |
77 | P>S | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs769869014 CA8136805 |
78 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs897923990 CA283394567 |
79 | L>F | No |
ClinGen gnomAD |
|
|
rs781381974 CA8136803 |
82 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs868114755 CA283394539 |
85 | Q>E | No |
ClinGen TOPMed |
|
| TCGA novel | 87 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1246679557 CA396501767 |
88 | A>T | No |
ClinGen gnomAD |
|
|
COSM972942 rs751843082 CA8136801 |
88 | A>V | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs1383552271 CA396501738 |
89 | L>P | No |
ClinGen gnomAD |
|
|
rs1299121919 CA396501713 |
90 | T>I | No |
ClinGen gnomAD |
|
|
CA396501703 rs1165984120 |
91 | Y>C | No |
ClinGen gnomAD |
|
|
CA8136798 rs753258652 |
91 | Y>N | No |
ClinGen ExAC gnomAD |
|
|
rs1372576424 CA396501648 |
95 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA283394489 rs768744592 |
96 | E>G | No |
ClinGen TOPMed |
|
|
rs753455172 CA396501611 |
98 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753455172 CA8136795 |
98 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8136794 rs766107921 |
100 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 101 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8136792 rs772834575 |
102 | H>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA8136789 rs774343651 |
107 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8136790 rs761590982 |
107 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA283394444 rs761590982 |
107 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768642056 CA8136788 |
108 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA396501462 rs768642056 |
108 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs201082498 CA283394414 |
108 | Q>R | No |
ClinGen 1000Genomes |
|
| TCGA novel | 109 | K>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8136766 rs771007827 |
114 | S>L | No |
ClinGen ExAC |
|
|
rs773476588 CA8136765 |
115 | S>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8136764 rs773476588 |
115 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8136762 rs367786741 |
116 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8136761 rs779460417 |
117 | Q>E | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 120 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1431730457 CA396501082 |
122 | P>S | No |
ClinGen gnomAD |
|
|
CA283392448 rs999336748 |
124 | H>Y | No |
ClinGen TOPMed |
|
|
CA8136760 rs755501551 |
125 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA283392445 rs755501551 |
125 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs981358617 CA283392441 |
126 | S>F | No |
ClinGen gnomAD |
|
|
rs1241915005 CA396501038 |
129 | H>R | No |
ClinGen gnomAD |
|
|
rs751320087 CA8136754 |
133 | K>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8136753 rs751320087 |
133 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA396501015 rs751320087 |
133 | K>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1350384735 CA396501013 |
133 | K>R | No |
ClinGen gnomAD |
|
| rs376673166 | 134 | P>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1384426386 CA396500995 |
134 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA283392271 rs1034084821 |
135 | K>N | No |
ClinGen TOPMed |
|
|
rs1446436729 CA396500982 |
136 | P>S | No |
ClinGen gnomAD |
|
|
rs1597617047 CA396500977 |
137 | P>A | No |
ClinGen Ensembl |
|
|
rs1413887220 CA396500973 |
137 | P>L | No |
ClinGen gnomAD |
|
|
rs1185439446 CA396500969 |
138 | Q>E | No |
ClinGen gnomAD |
|
|
rs1243509562 CA396500953 |
140 | T>A | No |
ClinGen gnomAD |
|
|
rs556913653 CA8136732 |
141 | E>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1291566861 CA396500935 |
142 | K>N | No |
ClinGen gnomAD |
|
|
rs373929661 CA8136731 |
143 | G>R | No |
ClinGen ESP ExAC gnomAD |
|
|
CA283392255 rs898759808 |
145 | S>P | No |
ClinGen Ensembl |
|
|
rs1567643525 CA396500910 |
146 | A>V | No |
ClinGen Ensembl |
|
|
CA396500896 rs1399909961 |
148 | E>V | No |
ClinGen TOPMed |
|
|
CA8136726 rs759429035 |
154 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA396500841 rs1400896972 |
156 | S>P | No |
ClinGen gnomAD |
|
|
CA8136725 rs199909206 |
158 | M>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA283392226 rs1056809288 |
160 | W>R | No |
ClinGen Ensembl |
|
|
CA8136723 rs767516188 |
163 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA283392214 rs977069740 |
165 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1407742102 CA396500744 |
165 | P>S | No |
ClinGen gnomAD |
|
|
rs1407742102 CA396500743 |
165 | P>T | No |
ClinGen gnomAD |
|
|
CA8136720 rs774712134 |
166 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA283392208 rs774712134 |
166 | N>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs369130166 CA396500698 |
167 | I>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA396500664 rs1489726256 |
169 | H>Y | No |
ClinGen gnomAD |
|
|
CA396500648 rs1453021765 |
170 | E>K | No |
ClinGen TOPMed |
|
|
CA8136716 rs770299144 |
171 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs775760815 CA8136717 |
171 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1260143759 CA396500610 |
172 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
rs780699346 CA8136715 |
172 | Q>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780699346 CA8136714 |
172 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA283392173 rs377474731 |
174 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8136690 rs142056738 |
176 | I>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA8136689 rs548802495 |
176 | I>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA396500486 rs1378573901 |
177 | D>Y | No |
ClinGen gnomAD |
|
|
CA396500469 rs1179360018 |
178 | R>I | No |
ClinGen TOPMed |
|
|
CA8136688 rs778711110 |
179 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA396500448 rs917744432 |
180 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
CA283392004 rs200787858 |
180 | E>V | No |
ClinGen 1000Genomes |
|
|
CA8136686 rs749166459 |
182 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs1254223112 CA396500412 |
184 | S>N | No |
ClinGen gnomAD |
|
|
rs1056588735 CA283391991 |
185 | E>K | No |
ClinGen Ensembl |
|
|
rs1202379888 CA396500388 |
186 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs141066738 CA396500371 |
187 | E>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs141066738 CA8136685 |
187 | E>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA396500375 rs1483739204 |
187 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs756162538 CA396500367 |
188 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756162538 CA8136684 |
188 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764295087 CA8136679 |
193 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs148140126 CA8136678 |
194 | F>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs201940286 CA8136676 |
200 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8136677 rs373901607 |
200 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1362884821 CA396500222 |
202 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs569301973 CA8136673 |
204 | D>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs202043710 CA396500199 |
205 | G>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA8136671 rs772658224 |
205 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs202043710 CA8136669 |
205 | G>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA8136668 rs532411017 |
206 | G>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA396500197 rs1460541902 |
206 | G>S | No |
ClinGen TOPMed |
|
| rs1214772070 | 206 | G>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA283391920 rs975716353 |
208 | W>R | No |
ClinGen Ensembl |
|
|
rs964023145 CA283391917 |
209 | I>V | No |
ClinGen Ensembl |
|
|
CA396500172 rs1597616806 |
210 | T>P | No |
ClinGen Ensembl |
|
|
rs1286547659 CA396500159 |
212 | S>G | No |
ClinGen gnomAD |
|
|
rs1221651110 CA396500138 |
214 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1597616794 CA396500142 |
214 | I>V | No |
ClinGen Ensembl |
|
|
rs773862518 CA8136667 |
215 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8136665 rs749007038 |
216 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs780029064 CA8136664 |
218 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA396500105 rs1311499490 |
219 | Q>K | No |
ClinGen TOPMed |
|
|
rs1292954268 CA396499538 |
220 | E>G | No |
ClinGen gnomAD |
|
|
CA396499487 rs1299260798 |
221 | L>Q | No |
ClinGen gnomAD |
|
|
CA396499496 rs1299260798 |
221 | L>R | No |
ClinGen gnomAD |
|
|
CA8136662 rs745817578 |
221 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs777937553 CA8136661 |
223 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
CA8136656 rs754109316 |
226 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs140707395 CA8136658 |
226 | V>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs140707395 CA8136657 |
226 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs761111639 CA8136654 |
228 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA396499317 rs1209849346 |
229 | D>N | No |
ClinGen TOPMed |
|
|
rs528824487 CA8136652 CA396499291 |
230 | V>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA8136651 rs528824487 |
230 | V>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs3811348 CA396499277 |
231 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA8136648 rs3811348 VAR_050287 |
231 | R>Q | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA8136649 rs370794024 |
231 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8136646 rs543289898 |
232 | V>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs543289898 CA8136647 |
232 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA8136645 rs377576075 |
233 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1404742484 CA396499198 |
236 | T>S | No |
ClinGen gnomAD |
|
|
CA8136644 rs781258553 |
236 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA396499182 rs1326084748 |
237 | T>A | No |
ClinGen gnomAD |
|
|
rs1387920117 CA396499172 |
237 | T>I | No |
ClinGen gnomAD |
|
|
rs1233823580 CA396499126 |
240 | A>G | No |
ClinGen gnomAD |
|
|
CA8136643 rs748142401 |
240 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748142401 CA8136642 |
240 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8136641 rs147575559 |
241 | M>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA396499123 rs1424638075 |
241 | M>L | No |
ClinGen gnomAD |
|
|
CA396498958 rs1156979781 |
246 | L>P | No |
ClinGen TOPMed |
|
|
rs770730342 CA8136623 |
247 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
rs768785553 CA8136620 |
251 | H>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1281094692 CA396498875 |
251 | H>Y | No |
ClinGen gnomAD |
|
|
CA8136618 rs558915977 |
252 | V>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs558915977 CA8136617 |
252 | V>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs746189885 CA8136616 |
254 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA8136614 rs757644602 |
255 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs757644602 CA396498834 |
255 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA283391429 rs867680314 |
257 | G>D | No |
ClinGen Ensembl |
|
|
CA8136612 rs143188741 |
257 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA396498771 rs1418901500 |
258 | M>I | No |
ClinGen gnomAD |
|
|
CA8136611 rs757908565 |
258 | M>R | No |
ClinGen ExAC gnomAD |
|
|
CA396498747 rs1358433967 |
260 | I>T | No |
ClinGen gnomAD |
|
|
rs759296939 CA396498740 |
261 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759296939 CA8136609 |
261 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8136606 rs766211851 |
261 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766211851 CA8136607 |
261 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8136608 rs759296939 |
261 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1179619965 CA396498732 |
262 | E>K | No |
ClinGen gnomAD |
|
|
CA283391409 rs140750415 |
263 | A>T | No |
ClinGen ESP gnomAD |
|
|
CA8136605 rs144951532 |
263 | A>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs775577759 CA8136601 |
264 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs749334665 CA8136602 |
264 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs555253831 CA8136600 |
265 | S>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs746101501 CA8136599 |
267 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs149902028 CA8136597 |
269 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs149902028 CA8136598 |
269 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs199699618 CA8136595 COSM1217537 |
269 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs199699618 CA8136596 |
269 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759018028 CA8136594 |
270 | C>G | No |
ClinGen ExAC gnomAD |
|
|
rs752218885 CA8136593 |
271 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA283391353 rs201781279 |
273 | C>W | No |
ClinGen Ensembl |
|
|
rs1338140443 CA396498602 CA396498604 |
274 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
CA8136591 rs199696552 |
275 | K>E | No |
ClinGen 1000Genomes ExAC TOPMed |
|
|
rs551815268 CA8136590 |
275 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8136568 rs139171866 |
277 | T>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs140714914 CA8136567 |
277 | T>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs140714914 CA396498235 |
277 | T>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA8136564 rs751491953 |
280 | M>L | No |
ClinGen ExAC gnomAD |
|
|
CA8136563 rs764073447 |
280 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA396498210 rs751491953 |
280 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs373158111 CA8136562 |
282 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs373158111 CA8136561 COSM1379256 |
282 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1450012038 CA396498176 |
283 | V>M | No |
ClinGen TOPMed |
|
| TCGA novel | 284 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1456578440 CA396498149 |
285 | C>G | No |
ClinGen gnomAD |
|
|
CA8136559 rs760833894 |
286 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8136560 rs771149481 |
286 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs1299005087 CA396498123 |
287 | H>R | No |
ClinGen gnomAD |
|
|
rs369384135 CA8136558 |
287 | H>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs144374127 CA8136557 |
288 | C>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs144374127 CA8136556 |
288 | C>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8136554 rs769336680 |
290 | N>D | No |
ClinGen ExAC gnomAD |
|
|
rs748801425 CA8136553 |
290 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs779451471 CA396498070 |
291 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs140632082 CA8136551 |
292 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs569105886 CA8136550 |
294 | K>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA8136549 rs780887579 |
295 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs1465285998 CA396498019 |
296 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1435373076 CA396498006 |
297 | S>F | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 297 | S>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs201329814 CA8136546 |
297 | S>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA283389207 rs372933003 |
298 | V>M | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA8136544 rs753909517 |
299 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs1240163234 CA396497983 |
299 | T>I | No |
ClinGen gnomAD |
|
|
rs200093997 CA8136541 |
300 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs762247376 CA8136539 |
301 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA8136540 rs550706516 |
301 | S>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1246987821 CA396497942 |
302 | D>H | No |
ClinGen TOPMed |
|
|
rs749772355 CA8136536 |
303 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs375951032 CA8136534 |
304 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs745439543 CA8136533 |
306 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA8136531 rs756940203 |
308 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs1301418374 CA396497827 |
308 | M>V | No |
ClinGen gnomAD |
|
|
rs1158556594 CA396497809 |
309 | H>R | No |
ClinGen gnomAD |
|
|
CA8136530 rs746762242 |
309 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1382174482 CA396497780 |
312 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA8136527 rs143009356 |
312 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA283389142 rs143009356 |
312 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA8136528 rs143009356 |
312 | R>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA8136525 rs756136944 |
314 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs921404406 CA283389124 |
315 | K>R | No |
ClinGen Ensembl |
|
|
CA396497731 rs1169076635 |
316 | V>A | No |
ClinGen TOPMed |
|
|
rs1183861633 CA396497718 |
317 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1041253548 CA283389119 |
318 | N>H | No |
ClinGen TOPMed |
|
|
CA283389114 rs1025882909 |
318 | N>K | No |
ClinGen TOPMed gnomAD |
|
|
CA8136524 rs750581436 |
318 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA283389110 rs944434138 |
319 | P>A | No |
ClinGen Ensembl |
|
|
rs1355775499 CA396497168 |
319 | P>H | No |
ClinGen gnomAD |
|
|
CA283389097 rs201985418 |
320 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA8136522 rs201985418 |
320 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs774798065 CA8136521 |
320 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA396497143 rs763441100 |
321 | G>R | No |
ClinGen ExAC TOPMed |
|
|
rs763441100 CA8136519 |
321 | G>S | No |
ClinGen ExAC TOPMed |
|
|
CA8136518 rs775844742 |
322 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA8136516 rs575122853 |
323 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs770379216 CA8136517 |
323 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA396496366 rs199696927 |
324 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8136491 rs199696927 |
324 | Y>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771807789 CA8136490 |
325 | S>L | No |
ClinGen ExAC gnomAD |
|
|
CA8136485 rs780207082 |
327 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs1597613685 CA396496308 |
328 | T>I | No |
ClinGen Ensembl |
|
|
CA396496305 rs1194829691 |
329 | P>S | No |
ClinGen gnomAD |
|
|
CA8136483 rs751735190 |
331 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751735190 CA8136484 |
331 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA283387584 rs943498114 |
332 | G>A | No |
ClinGen Ensembl |
|
|
rs1405616927 CA396496280 |
333 | K>R | No |
ClinGen TOPMed |
|
|
TCGA novel rs199873991 CA283387574 |
334 | Y>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen TOPMed NCI-TCGA |
|
rs374897147 CA8136481 |
334 | Y>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8136480 rs200973241 |
335 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA283387571 rs1052182555 |
335 | A>V | No |
ClinGen TOPMed |
|
|
CA8136479 rs769656111 |
337 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs769656111 CA396496228 |
337 | N>T | No |
ClinGen ExAC gnomAD |
|
|
rs1476970336 CA396496218 |
338 | P>T | No |
ClinGen gnomAD |
|
|
CA396496204 rs562027876 |
339 | H>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA8136476 rs148297045 |
339 | H>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA283387565 rs148297045 |
339 | H>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs562027876 CA8136477 |
339 | H>Y | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA396496191 rs1234505164 |
340 | L>V | No |
ClinGen TOPMed |
|
|
CA283387561 rs933762241 |
341 | T>A | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA8136471 rs773950270 |
342 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768566151 CA8136470 |
342 | E>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA396496149 rs1438054016 |
342 | E>D | No |
ClinGen TOPMed |
|
|
CA8136472 rs773950270 |
342 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA396496148 rs1200263600 |
343 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1200263600 CA396496143 |
343 | D>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs144311268 CA8136468 |
344 | Q>E | No |
ClinGen ESP ExAC gnomAD |
|
|
rs367776601 CA8136467 COSM417300 |
345 | R>C | Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA8136466 rs202231111 |
345 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA8136465 rs202231111 |
345 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs752972297 CA8136463 |
347 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8136460 rs200241603 |
350 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1168412771 CA396496033 |
350 | R>Q | No |
ClinGen TOPMed |
|
|
CA396496011 rs749853972 |
352 | S>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8136455 rs767068331 |
352 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749853972 CA8136456 |
352 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1402165712 CA396496001 |
353 | Q>* | No |
ClinGen TOPMed |
|
|
CA8136454 rs149583705 |
353 | Q>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs200699147 CA283387502 |
354 | K>M | No |
ClinGen TOPMed |
|
|
rs959461388 CA283387501 |
357 | Q>* | No |
ClinGen Ensembl |
|
|
CA396495916 rs1470281461 |
359 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1470281461 CA396495918 |
359 | T>P | No |
ClinGen TOPMed gnomAD |
|
|
CA396495912 rs1567641218 |
359 | T>S | No |
ClinGen Ensembl |
|
|
rs770744330 CA8136452 |
361 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs199823310 CA8136450 CA8136449 |
362 | F>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs200963044 CA8136448 |
363 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8136447 rs773101833 |
364 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA396495817 rs1283799001 |
365 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
CA8136445 rs748236455 |
365 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA8136446 rs772192178 |
365 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA396495809 rs1075935 |
366 | Y>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA8136444 rs1075935 VAR_050288 |
366 | Y>F | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs755234226 CA396495802 |
367 | I>F | No |
ClinGen ExAC gnomAD |
|
|
rs371437900 CA8136442 |
367 | I>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs755234226 CA8136443 |
367 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA8136440 rs750935720 |
368 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750935720 CA8136439 |
368 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8136438 rs767966673 |
368 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs150459642 CA8136436 |
369 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8136435 rs763796065 |
369 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA396495743 rs150459642 |
369 | G>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8136433 rs775362926 |
371 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8136432 rs765124938 |
372 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA396495701 rs1189121083 |
372 | P>T | No |
ClinGen gnomAD |
|
|
rs759320295 CA396495694 |
373 | F>I | No |
ClinGen ExAC gnomAD |
|
|
rs759320295 CA8136431 |
373 | F>V | No |
ClinGen ExAC gnomAD |
|
|
rs770825976 CA8136429 |
375 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs368680835 CA396495626 |
377 | D>H | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs368680835 CA283387437 |
377 | D>N | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs748231308 CA8136428 |
377 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA396495607 rs1337242239 |
378 | I>F | No |
ClinGen gnomAD |
|
|
CA396495609 rs1337242239 |
378 | I>V | No |
ClinGen gnomAD |
|
|
CA8136427 rs112175164 |
379 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA283387434 rs112175164 |
379 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs145274258 CA8136425 COSM1379254 |
381 | R>C | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA396495580 rs1290543750 |
381 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
CA396495578 rs1290543750 |
381 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
rs756486064 CA8136423 |
382 | S>L | No |
ClinGen ExAC gnomAD |
|
|
CA396495527 rs1462644831 |
385 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
CA396495525 rs1462644831 |
385 | L>R | No |
ClinGen TOPMed gnomAD |
|
|
CA396495506 rs1454881326 |
386 | Q>H | No |
ClinGen TOPMed |
|
|
CA8136421 rs781701396 |
386 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs920287409 CA283387421 |
387 | V>I | No |
ClinGen TOPMed |
|
|
CA8136420 rs757734469 |
388 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 388 | R>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs567828761 CA8136419 |
388 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA283387419 rs757734469 |
388 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs907698855 CA283387403 |
389 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA8136417 rs192458406 |
390 | S>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA8136414 rs61731358 |
393 | G>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA8136415 rs765043201 |
393 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8136413 rs753620220 |
395 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA396495372 rs1274010799 |
395 | G>R | No |
ClinGen gnomAD |
|
|
rs372678543 CA8136411 |
396 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8136412 rs200044448 |
396 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs774359564 CA8136410 |
397 | R>S | No |
ClinGen ExAC gnomAD |
|
|
CA8136409 rs768728190 |
398 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs763077738 CA8136408 |
398 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1394647849 CA396495336 |
399 | L>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1349874888 CA396495309 |
401 | P>S | No |
ClinGen TOPMed |
|
|
rs1022069775 CA283387375 |
402 | N>H | No |
ClinGen TOPMed |
|
|
rs769948978 CA8136406 |
402 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs956504618 CA283387365 |
403 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA396495259 rs1439589272 |
406 | K>R | No |
ClinGen TOPMed |
|
|
rs372723562 CA396495240 |
407 | K>N | No |
ClinGen ESP TOPMed |
|
|
rs771407166 CA8136403 |
407 | K>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs939689278 CA283387336 |
410 | K>R | No |
ClinGen TOPMed |
|
|
rs778486819 CA396495204 |
411 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1324744330 CA396495188 |
413 | R>C | No |
ClinGen TOPMed |
|
|
CA396495191 rs1456621000 |
413 | R>L | No |
ClinGen gnomAD |
No associated diseases with Q9ULX3
3 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. |
| nucleoplasm | That part of the nuclear content other than the chromosomes or the nucleolus. |
| preribosome, small subunit precursor | A preribosomal complex consisting of 20S pre-rRNA, ribosomal proteins including late-associating small subunit proteins, and associated proteins; a precursor of the eukaryotic cytoplasmic small ribosomal subunit. |
2 GO annotations of molecular function
| Name | Definition |
|---|---|
| endoribonuclease activity | Catalysis of the hydrolysis of ester linkages within ribonucleic acid by creating internal breaks. |
| metal ion binding | Binding to a metal ion. |
4 GO annotations of biological process
| Name | Definition |
|---|---|
| cleavage involved in rRNA processing | Any phosphodiester bond hydrolysis involved in the conversion of a primary ribosomal RNA (rRNA) transcript into a mature rRNA molecule. |
| maturation of SSU-rRNA | Any process involved in the maturation of a precursor Small SubUnit (SSU) ribosomal RNA (rRNA) molecule into a mature SSU-rRNA molecule. |
| rRNA processing | Any process involved in the conversion of a primary ribosomal RNA (rRNA) transcript into one or more mature rRNA molecules. |
| visual perception | The series of events required for an organism to receive a visual stimulus, convert it to a molecular signal, and recognize and characterize the signal. Visual stimuli are detected in the form of photons and are processed to form an image. |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MAPVEHVVAD | AGAFLRHAAL | QDIGKNIYTI | REVVTEIRDK | ATRRRLAVLP | YELRFKEPLP |
| 70 | 80 | 90 | 100 | 110 | 120 |
| EYVRLVTEFS | KKTGDYPSLS | ATDIQVLALT | YQLEAEFVGV | SHLKQEPQKV | KVSSSIQHPE |
| 130 | 140 | 150 | 160 | 170 | 180 |
| TPLHISGFHL | PYKPKPPQET | EKGHSACEPE | NLEFSSFMFW | RNPLPNIDHE | LQELLIDRGE |
| 190 | 200 | 210 | 220 | 230 | 240 |
| DVPSEEEEEE | ENGFEDRKDD | SDDDGGGWIT | PSNIKQIQQE | LEQCDVPEDV | RVGCLTTDFA |
| 250 | 260 | 270 | 280 | 290 | 300 |
| MQNVLLQMGL | HVLAVNGMLI | REARSYILRC | HGCFKTTSDM | SRVFCSHCGN | KTLKKVSVTV |
| 310 | 320 | 330 | 340 | 350 | 360 |
| SDDGTLHMHF | SRNPKVLNPR | GLRYSLPTPK | GGKYAINPHL | TEDQRFPQLR | LSQKARQKTN |
| 370 | 380 | 390 | 400 | 410 | |
| VFAPDYIAGV | SPFVENDISS | RSATLQVRDS | TLGAGRRRLN | PNASRKKFVK | KR |