Q9Y3A4
PR
Gene name |
RRP7A (CGI-96) |
Protein name |
Ribosomal RNA-processing protein 7 homolog A |
Names |
Gastric cancer antigen Zg14 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:27341 |
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
4 structures for Q9Y3A4
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 7MQ8 | EM | 360 A | NI | 1-280 | PDB |
| 7MQ9 | EM | 387 A | NI | 1-280 | PDB |
| 7MQA | EM | 270 A | NI | 1-280 | PDB |
| AF-Q9Y3A4-F1 | Predicted | AlphaFoldDB |
334 variants for Q9Y3A4
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs1356719738 CA411794767 VAR_086134 |
155 | W>C | MCPH28; increased proteolytic degradation; decreased recruitment to the nucleolus; decreased interaction with NOL6; decreased function in localization of NOL6 to the nucleolus; loss of function in rRNA processing; changed function in cilia resorption [UniProt] | Yes |
ClinGen UniProt TOPMed dbSNP gnomAD |
|
CA411795768 rs1445664411 |
2 | V>A | No |
ClinGen gnomAD |
|
|
rs1409754340 CA411795771 |
2 | V>L | No |
ClinGen Ensembl |
|
|
rs1241529082 CA411795761 |
3 | A>V | No |
ClinGen gnomAD |
|
|
rs773233078 CA411795759 |
4 | R>C | No |
ClinGen ExAC TOPMed |
|
|
CA411795758 rs993323256 |
4 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
rs993323256 CA324700909 |
4 | R>P | No |
ClinGen TOPMed gnomAD |
|
|
CA10268445 rs773233078 |
4 | R>S | No |
ClinGen ExAC TOPMed |
|
|
CA324700903 rs907113884 |
5 | R>G | No |
ClinGen TOPMed |
|
|
CA411795754 rs1359434045 |
5 | R>K | No |
ClinGen TOPMed gnomAD |
|
|
CA411795755 rs1359434045 |
5 | R>M | No |
ClinGen TOPMed gnomAD |
|
|
CA10268444 rs764621088 |
6 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs761361106 CA10268443 |
6 | R>K | No |
ClinGen ExAC |
|
|
rs1405252957 CA411795746 |
6 | R>S | No |
ClinGen gnomAD |
|
|
rs761361106 CA411795749 |
6 | R>T | No |
ClinGen ExAC |
|
|
rs1012892961 CA324700893 |
7 | K>R | No |
ClinGen TOPMed |
|
|
rs768363450 CA10268440 |
8 | C>* | No |
ClinGen ExAC gnomAD |
|
|
rs776251235 CA10268441 |
8 | C>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776251235 CA324700886 |
8 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10268438 rs574419077 |
9 | A>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA411795733 rs760322405 |
9 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10268439 rs760322405 |
9 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs574419077 CA411795730 |
9 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA10268436 rs749715146 |
10 | A>E | No |
ClinGen ExAC gnomAD |
|
|
rs749715146 CA411795725 |
10 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1425057669 CA411795724 |
11 | R>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs544402613 CA10268435 |
11 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 11 | R>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1264758820 CA411795714 |
12 | D>E | No |
ClinGen TOPMed |
|
|
rs769983962 CA10268434 |
12 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA411795719 rs769983962 |
12 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748308379 CA10268433 |
13 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA411795713 rs748308379 |
13 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1217896134 CA411795705 |
14 | E>G | No |
ClinGen gnomAD |
|
|
rs577236886 CA324700804 |
14 | E>K | No |
ClinGen 1000Genomes |
|
|
CA411795699 rs1447452253 |
15 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
CA10268431 rs372108370 |
15 | D>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA411795693 rs751830134 |
16 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10268430 rs751830134 |
16 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1322438771 CA411795692 |
16 | R>H | No |
ClinGen gnomAD |
|
|
CA411795691 rs1322438771 |
16 | R>P | No |
ClinGen gnomAD |
|
|
rs751830134 CA411795694 |
16 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA411795683 rs1360933780 |
17 | I>M | No |
ClinGen TOPMed |
|
|
CA324700764 rs746037038 |
19 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1348882268 CA411795664 |
20 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1279823076 CA411795662 |
21 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA411795656 rs1400433856 |
22 | G>C | No |
ClinGen gnomAD |
|
|
CA411795654 rs1344741997 |
22 | G>D | No |
ClinGen gnomAD |
|
|
rs976082718 CA324700759 |
24 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1458930149 CA411795638 |
25 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1458930149 CA411795639 |
25 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA10268403 rs530672590 |
28 | I>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA10268401 rs752282886 |
30 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs1008034268 CA324699887 |
32 | E>D | No |
ClinGen TOPMed |
|
|
rs767268802 CA10268400 |
35 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs773568822 CA411795549 |
36 | A>D | No |
ClinGen ExAC gnomAD |
|
|
CA10268399 rs759117782 |
36 | A>P | No |
ClinGen ExAC gnomAD |
|
|
CA10268398 rs773568822 |
36 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA10268397 rs765721218 |
37 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA411795542 rs1470958965 |
38 | H>N | No |
ClinGen TOPMed |
|
|
CA324699876 rs563354485 |
38 | H>Q | No |
ClinGen 1000Genomes gnomAD |
|
|
CA10268395 rs779537916 |
40 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1303114841 CA411795525 |
40 | L>H | No |
ClinGen gnomAD |
|
|
rs1184744414 CA411795518 |
41 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
CA10268391 rs775568745 |
43 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10268390 rs775568745 |
43 | R>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA324699826 rs868467290 |
46 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1231523270 CA411795483 |
47 | V>D | No |
ClinGen TOPMed |
|
|
CA324699817 rs645627 |
47 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10268387 rs645627 |
47 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10268388 rs645627 |
47 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs183078623 CA324699800 |
48 | R>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs183078623 CA411795480 |
48 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs645625 CA324699786 |
48 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs645625 CA324699789 |
48 | R>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs645625 COSM3740455 CA10268385 |
48 | R>Q | liver [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
CA411795461 rs1601808653 |
51 | T>I | No |
ClinGen Ensembl |
|
|
rs777750043 CA10268384 |
51 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA411795454 rs1271359092 |
52 | K>N | No |
ClinGen TOPMed |
|
|
rs755578639 CA10268382 |
54 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs553186988 CA10268380 |
55 | W>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA411795440 rs1220809681 |
55 | W>R | No |
ClinGen gnomAD |
|
|
CA10268379 rs754611304 |
56 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs548037170 CA324699736 |
56 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs11553443 CA324699733 |
58 | K>N | No |
ClinGen TOPMed |
|
|
CA10268378 rs751290966 |
59 | R>K | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 60 | T>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10268376 rs765666158 |
62 | F>C | No |
ClinGen ExAC gnomAD |
|
|
CA10268374 rs762318863 |
63 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA10268373 rs645556 |
64 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1424052146 CA411795381 |
64 | L>P | No |
ClinGen gnomAD |
|
|
CA10268372 rs146723886 |
65 | N>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA10268371 rs761090267 |
66 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA411795365 rs1198898049 |
67 | P>S | No |
ClinGen gnomAD |
|
|
CA10268369 rs772062903 |
70 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
CA10268368 rs746058080 |
71 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs770686875 CA10268366 |
72 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA10268365 rs749150698 |
72 | E>V | No |
ClinGen ExAC gnomAD |
|
|
CA411795311 rs1243606821 |
73 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
rs748995595 CA10268292 |
73 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA411795305 rs1445420775 |
74 | S>I | No |
ClinGen TOPMed |
|
|
rs781500562 CA411795303 |
74 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA10268290 VAR_052227 rs8139383 |
75 | L>M | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1415806564 CA411795294 |
76 | S>C | No |
ClinGen gnomAD |
|
|
CA411795291 rs3207606 |
77 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs142219748 CA10268288 |
77 | R>H | Variant assessed as Somatic; 9.328e-05 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs3207606 CA10268289 |
77 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758469738 CA10268287 |
78 | L>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs757372041 CA10268284 |
79 | L>M | No |
ClinGen ExAC gnomAD |
|
|
CA411795282 rs1207726019 |
79 | L>Q | No |
ClinGen gnomAD |
|
|
CA10268282 rs201064075 |
81 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10268283 rs201064075 |
81 | T>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10268281 rs760591380 |
83 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs775552855 CA10268280 |
84 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA411795249 rs1191397361 |
85 | V>D | No |
ClinGen gnomAD |
|
|
rs1812240 CA411795250 |
85 | V>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
VAR_052228 rs1812240 CA10268278 |
85 | V>I | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA411795251 rs1812240 |
85 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA10268277 rs572207268 |
86 | Q>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
VAR_052229 rs11553441 CA10268275 |
88 | V>I | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA10268276 rs11553441 |
88 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA411795224 rs1353762346 |
89 | E>V | No |
ClinGen gnomAD |
|
|
rs367706570 CA10268272 |
91 | Q>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10268270 rs150110293 |
93 | K>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs149988472 CA10268269 |
94 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA411795185 rs1461972565 |
95 | D>Y | No |
ClinGen TOPMed |
|
|
CA411795175 rs1322952927 |
96 | L>R | No |
ClinGen TOPMed gnomAD |
|
|
CA411795172 rs1393099741 |
97 | A>S | No |
ClinGen gnomAD |
|
|
CA10268266 rs778818473 |
99 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA411795157 rs1465351560 |
99 | S>T | No |
ClinGen gnomAD |
|
|
rs935184664 CA324698049 |
101 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
rs753980241 CA10268264 |
102 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA411795139 rs1373596333 |
102 | E>K | No |
ClinGen gnomAD |
|
|
CA10268263 rs778194504 |
103 | S>* | No |
ClinGen ExAC gnomAD |
|
|
CA411795124 rs1254426260 |
104 | R>K | No |
ClinGen gnomAD |
|
|
rs370572764 CA10268262 |
105 | S>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA411795110 rs189542181 |
106 | K>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA411795116 rs1407272541 |
106 | K>Q | No |
ClinGen TOPMed |
|
|
rs1256528264 CA411795112 |
106 | K>R | No |
ClinGen gnomAD |
|
| TCGA novel | 107 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1340621230 CA411795100 |
108 | F>I | No |
ClinGen gnomAD |
|
|
CA411795097 rs1274812993 |
108 | F>S | No |
ClinGen TOPMed gnomAD |
|
|
CA10268258 rs199748775 |
112 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA411795067 rs199748775 |
112 | P>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs146335601 CA10268257 |
113 | V>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs762581437 CA10268256 |
114 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762581437 CA411795057 |
114 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA411795024 rs1224535154 |
117 | Q>H | No |
ClinGen gnomAD |
|
|
CA10268223 rs748361776 |
117 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs1137212 CA411795006 |
120 | Y>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA10268220 rs754724784 |
120 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs781538915 CA10268221 |
120 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA411794985 rs1398789729 |
123 | F>L | No |
ClinGen gnomAD |
|
|
CA10268218 rs779728024 |
127 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs750390669 CA10268216 |
128 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs758281083 CA411794954 |
128 | G>R | No |
ClinGen ExAC |
|
|
rs758281083 CA10268217 |
128 | G>W | No |
ClinGen ExAC |
|
|
rs756809368 CA10268214 |
129 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753415329 CA10268213 |
131 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1601806871 CA411794928 |
133 | L>V | No |
ClinGen Ensembl |
|
|
CA10268211 rs760246382 |
136 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA411794895 rs1243889520 |
138 | P>H | No |
ClinGen TOPMed gnomAD |
|
|
CA411794886 rs1241008998 |
140 | L>V | No |
ClinGen TOPMed |
|
|
rs1231159768 CA411794858 |
144 | E>D | No |
ClinGen gnomAD |
|
| TCGA novel | 145 | S>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA324697039 rs529782561 |
146 | H>Q | No |
ClinGen 1000Genomes |
|
|
rs766687602 CA10268209 |
150 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs1293743467 CA411794813 |
151 | G>S | No |
ClinGen gnomAD |
|
|
CA411794765 rs1356719738 |
155 | W>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1242885088 CA411794756 |
157 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
CA411794757 rs1242885088 |
157 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1433176510 CA411794754 |
157 | S>T | No |
ClinGen gnomAD |
|
|
CA411794731 rs1237833077 |
160 | A>E | No |
ClinGen gnomAD |
|
|
CA411794733 rs575305691 |
160 | A>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA411794732 rs575305691 |
160 | A>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA10268193 rs575305691 |
160 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1479541680 CA411794728 |
161 | D>N | No |
ClinGen gnomAD |
|
|
rs1252913499 CA411794717 |
162 | S>F | No |
ClinGen gnomAD |
|
|
rs538840606 CA10268190 |
164 | P>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA10268188 rs773855837 |
165 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1389975577 CA411794669 |
170 | R>T | No |
ClinGen gnomAD |
|
|
CA411794660 rs1375973094 |
171 | V>A | No |
ClinGen gnomAD |
|
|
CA411794661 rs1375973094 |
171 | V>G | No |
ClinGen gnomAD |
|
|
CA411794664 rs1309433848 |
171 | V>M | No |
ClinGen TOPMed |
|
|
CA411794658 rs1465956121 |
172 | E>K | No |
ClinGen gnomAD |
|
|
CA411794633 rs141505384 |
175 | T>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10268182 rs141505384 |
175 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs368547964 CA10268180 |
177 | M>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA411794620 rs1252364164 |
177 | M>T | No |
ClinGen gnomAD |
|
|
rs771841280 CA10268179 |
178 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA10268178 rs745726115 |
179 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA411794600 rs1255896115 |
180 | Y>C | No |
ClinGen TOPMed |
|
|
rs778681044 CA411794586 |
182 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778681044 CA10268177 |
182 | Q>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770794756 CA411794576 |
183 | K>M | No |
ClinGen ExAC gnomAD |
|
|
rs1236431639 CA411794575 |
183 | K>N | No |
ClinGen gnomAD |
|
|
rs770794756 CA10268176 |
183 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs749203081 CA411794567 |
184 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10268174 rs777308699 |
185 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA411794562 rs1395838186 |
185 | A>V | No |
ClinGen gnomAD |
|
|
rs755631224 CA10268173 |
186 | E>* | No |
ClinGen ExAC |
|
|
CA411794556 rs1354037495 |
186 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
CA411794540 rs1452131488 |
187 | E>G | No |
ClinGen gnomAD |
|
|
rs61731837 CA10268137 |
187 | E>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA411794527 rs1194586453 |
189 | A>T | No |
ClinGen gnomAD |
|
|
CA411794506 rs1437626863 |
192 | K>E | No |
ClinGen gnomAD |
|
|
rs550408213 CA324696022 |
193 | E>A | No |
ClinGen 1000Genomes |
|
|
CA10268136 rs143857931 |
193 | E>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA411794489 rs1370406900 |
194 | E>G | No |
ClinGen gnomAD |
|
|
rs746636283 CA10268135 |
195 | E>* | No |
ClinGen ExAC gnomAD |
|
|
rs746636283 CA10268134 |
195 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1569260194 CA411794468 |
197 | V>A | No |
ClinGen Ensembl |
|
|
rs1569260194 CA411794470 |
197 | V>G | No |
ClinGen Ensembl |
|
|
rs1232215794 CA411794472 |
197 | V>L | No |
ClinGen gnomAD |
|
|
CA411794466 rs1436345558 |
198 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
CA411794463 rs1373424293 |
198 | P>R | No |
ClinGen gnomAD |
|
|
rs976809242 CA324695990 |
199 | D>H | No |
ClinGen TOPMed |
|
|
rs749543746 CA10268128 |
200 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10268127 rs778212294 |
202 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA324695919 rs5758778 |
206 | V>L | No |
ClinGen gnomAD |
|
|
rs5758778 CA411794411 |
206 | V>M | No |
ClinGen gnomAD |
|
|
CA411794406 rs1601806187 |
207 | T>P | No |
ClinGen Ensembl |
|
|
CA411794400 rs1172431812 |
208 | R>C | No |
ClinGen gnomAD |
|
|
CA10268125 rs149462502 |
208 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA10268123 rs755111175 |
209 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767551719 CA10268124 |
209 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763250124 CA411794390 |
210 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10268120 rs763250124 |
210 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10268121 rs766445792 |
210 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs571369248 CA411794388 |
211 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA411794387 rs1208740941 |
211 | R>Q | No |
ClinGen gnomAD |
|
|
rs571369248 CA10268118 |
211 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA10268116 rs528397743 |
212 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs546744380 CA10268117 |
212 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1223398927 CA411794380 |
213 | P>A | No |
ClinGen gnomAD |
|
|
rs1348869216 CA411794373 |
214 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1348869216 CA411794375 |
214 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1409385019 CA411794367 |
215 | L>F | No |
ClinGen TOPMed |
|
|
rs746581164 CA10268113 |
216 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs768265982 CA10268114 |
216 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA411794359 rs1312213244 |
217 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
rs775066722 CA10268112 |
217 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA411794358 rs1312213244 |
217 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1601806130 CA411794345 |
219 | E>G | No |
ClinGen Ensembl |
|
| TCGA novel | 220 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs777957922 CA10268109 |
221 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA10268108 rs756539321 |
222 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA411794314 rs1486962394 |
224 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs146958654 CA10268104 |
224 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 225 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10268103 rs766506297 |
225 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1215183291 CA411794302 |
227 | E>K | No |
ClinGen gnomAD |
|
|
CA411794288 rs530809147 |
228 | R>S | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA10268102 rs758511782 |
230 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10268099 rs750700913 |
231 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs141279637 COSM1416638 CA10268100 |
231 | R>W | large_intestine Variant assessed as Somatic; 9.461e-05 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ESP NCI-TCGA TOPMed |
|
rs764921128 CA10268098 |
232 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA324695697 rs868201866 |
233 | R>C | No |
ClinGen gnomAD |
|
|
rs187868023 CA324695684 |
233 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen 1000Genomes NCI-TCGA TOPMed |
|
CA411794257 rs1569260091 |
234 | S>G | No |
ClinGen Ensembl |
|
|
rs753818776 CA10268096 |
234 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs753818776 CA10268097 |
234 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA10268095 rs764053729 |
235 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA411794253 rs764053729 |
235 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10268094 rs74731503 |
235 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10268093 rs74731503 |
235 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1343010242 COSM1416637 CA411794241 |
237 | E>* | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs771642399 CA10268092 |
237 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA411794242 rs1343010242 |
237 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1394161470 CA411794233 |
238 | L>P | No |
ClinGen gnomAD |
|
|
CA411794228 rs1476443974 |
239 | L>H | No |
ClinGen gnomAD |
|
|
CA411794224 rs1329022173 |
240 | N>D | No |
ClinGen TOPMed |
|
|
rs1415195860 CA411794220 |
240 | N>I | No |
ClinGen gnomAD |
|
|
CA411794221 rs1415195860 |
240 | N>S | No |
ClinGen gnomAD |
|
|
rs182534660 CA411794203 |
242 | Y>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs61731241 CA10268088 |
243 | A>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs61731241 CA10268087 |
243 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA10268086 rs769103857 |
243 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs895605269 CA324695606 |
244 | W>* | No |
ClinGen TOPMed |
|
|
rs1468236950 CA411794190 |
245 | Q>* | No |
ClinGen gnomAD |
|
|
rs747587381 CA10268085 |
247 | R>* | No |
ClinGen ExAC gnomAD |
|
|
CA411794173 rs140866757 |
247 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs140866757 CA10268084 |
247 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs199777203 CA10268083 |
248 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA10268082 rs199777203 |
248 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1271466041 CA411794162 |
249 | S>N | No |
ClinGen gnomAD |
|
|
rs753624956 CA10268078 |
250 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764002821 CA10268077 |
250 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA324695506 rs151013465 |
251 | M>I | No |
ClinGen ESP gnomAD |
|
|
rs752718883 CA10268075 |
251 | M>K | No |
ClinGen ExAC gnomAD |
|
|
rs760648614 CA10268076 |
251 | M>L | No |
ClinGen ExAC gnomAD |
|
|
CA411794141 rs1421702444 |
252 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
rs766913240 CA10268074 |
253 | H>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs562288172 CA10268032 |
254 | L>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs370225276 CA10268031 COSM1034785 |
255 | A>V | endometrium [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs764801302 CA10268029 |
256 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs764801302 CA411794110 |
256 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
rs761382571 CA10268028 |
258 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA411794097 rs761382571 |
258 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA411794096 rs1295157668 |
258 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs376375797 CA10268026 |
259 | K>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs544010371 CA10268027 |
259 | K>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA411794070 rs1209121833 |
262 | E>G | No |
ClinGen TOPMed |
|
|
rs373463538 CA10268022 |
262 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs373463538 CA10268023 |
262 | E>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs369644197 CA411794057 |
264 | D>H | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA324694365 rs369644197 |
264 | D>N | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA411794046 rs1423909397 |
265 | K>R | No |
ClinGen gnomAD |
|
|
rs773440850 CA10268019 |
266 | Q>R | No |
ClinGen ExAC |
|
|
CA10268015 rs181115402 |
268 | I>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs748349043 CA10268016 |
268 | I>N | No |
ClinGen ExAC gnomAD |
|
|
CA10268017 rs770011114 |
268 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs746940042 CA10268013 |
269 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA411794024 rs746940042 |
269 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA411794023 rs746940042 |
269 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs140514169 CA10268011 |
272 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10268012 rs780035106 |
272 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749875073 CA10268010 |
274 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA10268009 rs534014188 |
274 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
CA10268006 rs564789837 |
275 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs564789837 CA411793992 |
275 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA10268005 rs143684973 |
275 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA411793991 rs143684973 |
275 | R>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA10268007 rs564789837 |
275 | R>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA411793980 rs1320900932 |
277 | F>L | No |
ClinGen gnomAD |
|
|
CA324694284 rs267606264 |
278 | R>* | No |
ClinGen gnomAD |
|
|
rs140096249 CA411793971 |
278 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10268004 rs140096249 |
278 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs375538767 CA10268003 |
279 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs375538767 CA10268002 |
279 | P>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1458380372 CA411793963 |
280 | Y>C | No |
ClinGen gnomAD |
|
|
rs1371991836 CA411793956 |
281 | Y>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1371991836 CA411793957 |
281 | Y>R | No |
ClinGen TOPMed gnomAD |
|
|
CA10267998 rs776779881 |
281 | Y>W | No |
ClinGen ExAC TOPMed gnomAD |
1 associated diseases with Q9Y3A4
[MIM: 619453]: Microcephaly 28, primary, autosomal recessive (MCPH28)
A form of microcephaly, a disease defined as a head circumference more than 3 standard deviations below the age, sex and ethnically matched mean. Brain weight is markedly reduced and the cerebral cortex is disproportionately small. MCPH28 is an autosomal recessive form characterized by reduced head size (down to -8 SD) and variably impaired intellectual development apparent from early childhood. {ECO:0000269|PubMed:33199730}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- A form of microcephaly, a disease defined as a head circumference more than 3 standard deviations below the age, sex and ethnically matched mean. Brain weight is markedly reduced and the cerebral cortex is disproportionately small. MCPH28 is an autosomal recessive form characterized by reduced head size (down to -8 SD) and variably impaired intellectual development apparent from early childhood. {ECO:0000269|PubMed:33199730}. Note=The disease is caused by variants affecting the gene represented in this entry.
7 GO annotations of cellular component
| Name | Definition |
|---|---|
| centrosome | A structure comprised of a core structure (in most organisms, a pair of centrioles) and peripheral material from which a microtubule-based structure, such as a spindle apparatus, is organized. Centrosomes occur close to the nucleus during interphase in many eukaryotic cells, though in animal cells it changes continually during the cell-division cycle. |
| cilium | A specialized eukaryotic organelle that consists of a filiform extrusion of the cell surface and of some cytoplasmic parts. Each cilium is largely bounded by an extrusion of the cytoplasmic (plasma) membrane, and contains a regular longitudinal array of microtubules, anchored to a basal body. |
| CURI complex | A protein complex that is involved in the transcription of ribosomal genes. In Saccharomyces this complex consists of Ckb2p, Utp22p, Rrp7p and Ifh1p. |
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| nucleolus | A small, dense body one or more of which are present in the nucleus of eukaryotic cells. It is rich in RNA and protein, is not bounded by a limiting membrane, and is not seen during mitosis. Its prime function is the transcription of the nucleolar DNA into 45S ribosomal-precursor RNA, the processing of this RNA into 5.8S, 18S, and 28S components of ribosomal RNA, and the association of these components with 5S RNA and proteins synthesized outside the nucleolus. This association results in the formation of ribonucleoprotein precursors; these pass into the cytoplasm and mature into the 40S and 60S subunits of the ribosome. |
| nucleoplasm | That part of the nuclear content other than the chromosomes or the nucleolus. |
| UTP-C complex | A protein complex that forms a subcomplex of the 90S preribosome. In S. cerevisiae, it is composed of Rrp7p, Utp22p, Ckb1p, Cka1p, Ckb2p and Cka2p. |
1 GO annotations of molecular function
| Name | Definition |
|---|---|
| RNA binding | Binding to an RNA molecule or a portion thereof. |
6 GO annotations of biological process
| Name | Definition |
|---|---|
| blastocyst formation | The initial formation of a blastocyst from a solid ball of cells known as a morula. |
| cilium disassembly | A cellular process that results in the breakdown of a cilium. |
| protein localization to nucleolus | A process in which a protein is transported to, or maintained in, a location within a nucleolus. |
| ribosomal small subunit assembly | The aggregation, arrangement and bonding together of constituent RNAs and proteins to form the small ribosomal subunit. |
| ribosome biogenesis | A cellular process that results in the biosynthesis of constituent macromolecules, assembly, and arrangement of constituent parts of ribosome subunits; includes transport to the sites of protein synthesis. |
| rRNA processing | Any process involved in the conversion of a primary ribosomal RNA (rRNA) transcript into one or more mature rRNA molecules. |
No homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| No homologous proteins | ||||
| 10 | 20 | 30 | 40 | 50 | 60 |
| MVARRRKCAA | RDPEDRIPSP | LGYAAIPIKF | SEKQQASHYL | YVRAHGVRQG | TKSTWPQKRT |
| 70 | 80 | 90 | 100 | 110 | 120 |
| LFVLNVPPYC | TEESLSRLLS | TCGLVQSVEL | QEKPDLAESP | KESRSKFFHP | KPVPGFQVAY |
| 130 | 140 | 150 | 160 | 170 | 180 |
| VVFQKPSGVS | AALALKGPLL | VSTESHPVKS | GIHKWISDYA | DSVPDPEALR | VEVDTFMEAY |
| 190 | 200 | 210 | 220 | 230 | 240 |
| DQKIAEEEAK | AKEEEGVPDE | EGWVKVTRRG | RRPVLPRTEA | ASLRVLERER | RKRSRKELLN |
| 250 | 260 | 270 | |||
| FYAWQHRESK | MEHLAQLRKK | FEEDKQRIEL | LRAQRKFRPY |