Q9Y6V7
PR
Gene name |
DDX49 |
Protein name |
Probable ATP-dependent RNA helicase DDX49 |
Names |
DEAD box protein 49 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:54555 |
EC number |
3.6.4.13: Acting on ATP; involved in cellular and subcellular movement |
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 Q9Y6V7
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q9Y6V7-F1 | Predicted | AlphaFoldDB |
441 variants for Q9Y6V7
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs1568326914 CA404875838 |
2 | A>V | No |
ClinGen Ensembl |
|
|
CA404875845 rs1381711358 |
3 | G>C | No |
ClinGen gnomAD |
|
|
rs1420713060 CA404875849 |
3 | G>V | No |
ClinGen gnomAD |
|
|
CA9318803 rs531164145 |
4 | F>L | No |
ClinGen TOPMed |
|
|
CA9318805 rs770858758 |
5 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs770858758 CA9318806 |
5 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1555712160 CA9318809 |
6 | E>D | No |
ClinGen Ensembl |
|
|
rs764186802 CA9318808 |
6 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA9318811 rs371460930 |
7 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA404875899 rs1404263794 |
7 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
CA404875892 rs1404263794 |
7 | L>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1271145722 CA404875907 |
8 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1440026067 CA404875917 |
9 | L>M | No |
ClinGen gnomAD |
|
|
CA404875926 rs1212158969 |
10 | S>P | No |
ClinGen Ensembl |
|
|
CA404875937 rs1361808007 |
11 | S>T | No |
ClinGen TOPMed gnomAD |
|
|
rs767441810 CA9318814 |
11 | S>W | No |
ClinGen ExAC gnomAD |
|
|
CA9318815 rs749985973 |
12 | W>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404875954 rs755791901 |
12 | W>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9318816 rs755791901 |
12 | W>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs993355167 CA306276105 |
12 | W>R | No |
ClinGen TOPMed gnomAD |
|
|
CA9318817 rs765798163 |
13 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA404875964 rs1279195364 |
14 | V>L | No |
ClinGen gnomAD |
|
|
CA404876000 rs1436728196 |
16 | Q>R | No |
ClinGen gnomAD |
|
|
rs1239686706 CA404876014 |
17 | C>R | No |
ClinGen gnomAD |
|
|
rs1325037701 CA404876039 |
18 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
CA404876030 rs1439920072 |
18 | R>W | No |
ClinGen gnomAD |
|
|
CA404876044 rs755452873 |
19 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9318819 rs755452873 |
19 | Q>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1393636816 CA404876056 |
19 | Q>R | No |
ClinGen gnomAD |
|
|
rs1203816820 CA404876065 |
20 | L>M | No |
ClinGen gnomAD |
|
|
CA9318821 rs139869066 |
21 | G>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA306276135 rs1041526262 |
23 | K>R | No |
ClinGen Ensembl |
|
|
CA404876131 rs1315991064 |
24 | Q>R | No |
ClinGen TOPMed |
|
|
rs748687371 CA9318822 |
25 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404876160 rs1408331602 |
26 | T>A | No |
ClinGen gnomAD |
|
|
rs1385633912 CA404876175 |
27 | P>L | No |
ClinGen TOPMed |
|
| TCGA novel | 28 | V>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA404876204 rs1329168241 |
31 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA306276142 rs11543032 |
31 | G>V | No |
ClinGen Ensembl |
|
|
rs1239556034 CA404876240 |
35 | A>T | No |
ClinGen TOPMed |
|
|
CA306276154 rs911579121 |
36 | I>V | No |
ClinGen TOPMed |
|
|
rs1263115428 CA404876272 |
37 | L>V | No |
ClinGen TOPMed |
|
|
rs1467144397 CA404876305 |
39 | G>S | No |
ClinGen TOPMed |
|
|
rs775712338 CA404876432 |
40 | R>* | No |
ClinGen ExAC gnomAD |
|
|
rs1264447879 CA404876445 |
40 | R>P | No |
ClinGen gnomAD |
|
|
CA404876479 rs1474930078 |
42 | C>S | No |
ClinGen gnomAD |
|
|
CA9318850 rs748093851 |
44 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA9318851 rs772104304 |
45 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
CA404876537 rs1458580029 |
46 | A>T | No |
ClinGen gnomAD |
|
|
rs772859126 CA9318853 |
48 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs760556288 CA9318854 |
51 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1295788323 CA404876692 |
54 | A>G | No |
ClinGen gnomAD |
|
|
CA404876694 rs1299975096 |
55 | A>T | No |
ClinGen gnomAD |
|
|
rs776218735 CA9318856 |
56 | F>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404876744 rs759200566 |
57 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759200566 CA9318857 |
57 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA306276509 rs116507095 |
58 | L>F | No |
ClinGen 1000Genomes TOPMed |
|
|
CA306276508 rs116507095 |
58 | L>I | No |
ClinGen 1000Genomes TOPMed |
|
|
rs1245095091 CA404876785 |
58 | L>R | No |
ClinGen gnomAD |
|
|
rs147735065 CA9318859 |
59 | P>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9318861 rs764713644 |
60 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs148771932 CA9318862 |
61 | L>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA404877058 rs1301337170 |
69 | Y>* | No |
ClinGen TOPMed |
|
|
CA9318863 rs757589847 |
69 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA404877027 rs1180237527 |
69 | Y>H | No |
ClinGen gnomAD |
|
|
rs1284571446 CA404877146 |
73 | C>R | No |
ClinGen gnomAD |
|
|
rs1378635388 CA404877199 |
75 | V>D | No |
ClinGen gnomAD |
|
|
rs750603622 CA9318865 |
75 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1160227735 CA404877280 |
79 | T>S | No |
ClinGen gnomAD |
|
|
rs780267061 CA9318868 |
80 | R>T | No |
ClinGen ExAC gnomAD |
|
|
rs1435826813 CA404879056 |
82 | L>R | No |
ClinGen TOPMed |
|
|
rs773680130 CA9318902 |
86 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs151174298 CA9318900 |
86 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs546737559 CA9318903 |
87 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404879186 rs546737559 |
87 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9318905 rs755161139 |
89 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA9318910 rs199835682 |
91 | R>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9318909 rs199835682 |
91 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9318908 rs752777811 |
91 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA9318911 rs755844029 |
94 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs779715373 CA9318912 |
96 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs768246701 CA9318914 |
98 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748962784 CA9318913 |
98 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1157228817 CA404879764 |
102 | C>F | No |
ClinGen gnomAD |
|
|
rs773889592 CA9318915 |
102 | C>R | No |
ClinGen ExAC gnomAD |
|
|
CA404879758 rs1157228817 |
102 | C>Y | No |
ClinGen gnomAD |
|
|
rs1601248325 CA404879786 |
103 | I>V | No |
ClinGen Ensembl |
|
|
CA9318917 rs771738567 |
104 | I>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771738567 CA404879823 |
104 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9318916 rs747651605 |
104 | I>V | No |
ClinGen ExAC gnomAD |
|
|
COSM4140422 rs370800726 CA9318918 |
105 | V>I | ovary [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA404879880 rs1182705793 |
106 | G>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1182705793 CA404879865 |
106 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
CA404879911 rs1285020203 |
107 | G>C | No |
ClinGen gnomAD |
|
|
rs1376427548 CA404879922 |
108 | M>L | No |
ClinGen gnomAD |
|
|
CA9318921 rs776927534 |
109 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs371512926 CA9318939 |
110 | M>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs974737583 CA306279254 |
110 | M>T | No |
ClinGen Ensembl |
|
|
CA404880110 rs771624240 |
114 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM993188 CA9318940 rs771624240 |
114 | A>V | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs867059953 CA306279267 |
116 | E>D | No |
ClinGen Ensembl |
|
|
CA404880175 rs1458505998 |
118 | S>A | No |
ClinGen gnomAD |
|
|
CA9318945 rs775529778 |
119 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs376166380 CA9318946 |
119 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9318944 rs775529778 |
119 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA9318947 rs751692652 |
122 | H>D | No |
ClinGen ExAC gnomAD |
|
|
rs751692652 CA404880222 |
122 | H>N | No |
ClinGen ExAC gnomAD |
|
|
rs760580094 CA9318948 |
122 | H>P | No |
ClinGen ExAC |
|
|
rs753844299 COSM993189 CA9318950 |
123 | V>M | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 124 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1173108861 CA404880246 |
124 | V>D | No |
ClinGen gnomAD |
|
|
rs1391822537 CA404880266 |
126 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1322612825 CA404880285 |
127 | T>M | No |
ClinGen TOPMed gnomAD |
|
|
rs752331764 CA9318953 |
128 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA404880314 rs1216193140 |
130 | R>C | No |
ClinGen gnomAD |
|
|
CA9318955 rs777408968 |
130 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404880341 rs1200392464 |
132 | A>S | No |
ClinGen TOPMed |
|
|
CA9318957 rs771441924 |
133 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs562469064 CA9318956 |
133 | D>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA404880388 rs913714099 |
136 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
rs913714099 CA306279345 |
136 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
CA306279355 rs934423888 |
136 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
CA9318961 rs775896736 |
137 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs763145902 CA9318962 |
139 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA9318963 rs768911735 |
141 | F>C | No |
ClinGen ExAC gnomAD |
|
|
CA9318964 rs774380046 |
142 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA9318965 rs761841031 |
143 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1388350750 CA404880471 |
144 | K>E | No |
ClinGen gnomAD |
|
|
rs1406812427 CA404880491 |
145 | K>N | No |
ClinGen gnomAD |
|
|
rs949305573 CA306279388 |
146 | I>V | No |
ClinGen TOPMed |
|
|
CA9318967 rs201324570 |
147 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9318969 rs146434882 |
147 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9318968 rs146434882 |
147 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1243648029 CA404880521 |
149 | L>R | No |
ClinGen gnomAD |
|
|
CA9319001 rs779252069 |
150 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA404880583 rs1169536896 CA404880582 |
150 | V>L | No |
ClinGen gnomAD |
|
|
rs1299074606 CA404880594 |
151 | M>T | No |
ClinGen gnomAD |
|
|
rs1367582477 CA404880611 |
153 | E>K | No |
ClinGen gnomAD |
|
|
CA9319002 rs374840089 |
154 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs886281095 CA404880643 |
156 | R>P | No |
ClinGen TOPMed gnomAD |
|
|
CA306279672 rs886281095 |
156 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs772398315 CA9319003 |
156 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs74880526 CA306279684 |
158 | L>V | No |
ClinGen Ensembl |
|
|
rs1256473337 CA404880661 |
159 | E>Q | No |
ClinGen gnomAD |
|
|
rs1320228959 CA404880685 |
161 | G>D | No |
ClinGen gnomAD |
|
|
rs747154354 CA9319005 |
163 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747154354 CA404880700 |
163 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404880714 rs1568328813 |
164 | D>E | No |
ClinGen Ensembl |
|
|
rs1189405142 CA404880744 |
166 | T>I | No |
ClinGen gnomAD |
|
|
rs771166679 CA9319006 |
166 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs774272419 CA9319010 |
167 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404880766 rs1421076405 |
169 | L>V | No |
ClinGen gnomAD |
|
|
CA404880771 rs1411277812 |
170 | E>K | No |
ClinGen gnomAD |
|
|
CA404880782 rs1349699906 |
171 | A>T | No |
ClinGen gnomAD |
|
|
rs750071180 CA9319013 |
172 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA404880801 rs1305547025 |
173 | L>M | No |
ClinGen gnomAD |
|
| TCGA novel | 173 | L>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs199502364 CA9319017 |
174 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9319016 rs199502364 |
174 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404880890 rs779237525 |
176 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs779237525 CA9319019 |
176 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA9319021 rs373521203 |
177 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9319022 rs373521203 |
177 | P>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs558697552 CA9319020 |
177 | P>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1293949833 CA404880921 |
178 | A>S | No |
ClinGen gnomAD |
|
|
CA9319024 rs771078768 COSM993191 |
179 | R>C | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA9319025 rs771078768 |
179 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM565329 rs749236961 CA9319027 |
179 | R>H | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA9319026 rs749236961 |
179 | R>L | No |
ClinGen ExAC gnomAD |
|
|
rs771078768 CA404880934 |
179 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9319028 rs773981287 |
185 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs1286847953 CA404881110 |
186 | S>G | No |
ClinGen TOPMed |
|
|
CA404881182 rs1356348057 |
189 | L>V | No |
ClinGen TOPMed |
|
|
CA404881237 rs1165825202 |
190 | T>I | No |
ClinGen gnomAD |
|
|
rs375915937 CA9319032 |
191 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA404881288 rs1601249907 |
193 | L>F | No |
ClinGen Ensembl |
|
|
CA9319034 rs369655531 |
194 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9319033 rs765868639 |
194 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760015728 CA9319035 |
196 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs1035869446 CA306279841 |
197 | Q>R | No |
ClinGen TOPMed |
|
|
rs1346712482 CA404881356 |
198 | G>C | No |
ClinGen TOPMed |
|
|
rs765813700 CA9319036 |
198 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs753178089 CA9319037 |
202 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs1359830120 CA404881459 |
203 | Q>* | No |
ClinGen gnomAD |
|
|
CA404881483 rs1283721709 |
204 | P>S | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 205 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA404881499 rs1601250040 |
205 | F>V | No |
ClinGen Ensembl |
|
|
rs1236574403 CA404881510 |
206 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
CA404881512 rs1236574403 |
206 | F>V | No |
ClinGen TOPMed gnomAD |
|
|
rs116692491 CA9319039 |
207 | W>* | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA404881540 rs1482057296 |
207 | W>* | No |
ClinGen gnomAD |
|
|
rs751740279 CA9319040 |
209 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA404881618 rs1157397503 |
211 | A>T | No |
ClinGen gnomAD |
|
|
rs988977201 CA306279897 |
211 | A>V | No |
ClinGen Ensembl |
|
|
CA9319043 rs529978995 |
212 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs781411577 CA9319042 |
212 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404881768 rs1601250403 |
213 | V>G | No |
ClinGen Ensembl |
|
|
CA306280075 rs144883180 |
213 | V>L | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA404881760 rs144883180 |
213 | V>M | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA306280080 rs747592114 |
216 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA306280082 rs865976439 |
218 | Q>L | No |
ClinGen Ensembl |
|
|
CA9319069 rs368968523 |
221 | Q>H | No |
ClinGen ESP ExAC gnomAD |
|
|
rs372388947 CA9319070 |
222 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs35802425 VAR_033858 CA9319071 |
222 | R>H | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA9319072 rs763506848 |
223 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs1601250513 CA404882103 |
226 | V>G | No |
ClinGen Ensembl |
|
|
CA404882121 rs1271529091 |
228 | E>Q | No |
ClinGen gnomAD |
|
|
CA306280115 rs1037569273 |
230 | V>A | No |
ClinGen TOPMed |
|
|
CA404882222 rs1037569273 |
230 | V>G | No |
ClinGen TOPMed |
|
|
CA404882175 rs1340523508 |
230 | V>I | No |
ClinGen gnomAD |
|
|
rs1303798273 CA404882235 |
231 | K>R | No |
ClinGen gnomAD |
|
|
rs775026871 CA9319074 |
233 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9319075 rs775026871 |
233 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775026871 CA9319076 |
233 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1490981046 CA404882337 |
234 | Y>H | No |
ClinGen gnomAD |
|
|
rs1223805112 CA404882390 |
236 | V>L | No |
ClinGen gnomAD |
|
|
rs922249032 CA306280134 |
239 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
rs931431581 CA306280145 |
241 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA9319077 rs373378963 |
241 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1251642510 CA404882494 |
242 | F>V | No |
ClinGen TOPMed |
|
|
CA404882598 rs1601250637 |
244 | D>G | No |
ClinGen Ensembl |
|
|
CA9319078 rs756355764 |
245 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA9319080 COSM1391754 rs753913915 |
247 | E>K | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs375319625 CA306280170 |
248 | D>A | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs375319625 CA404882705 |
248 | D>G | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA404882734 rs1226287866 |
249 | W>* | No |
ClinGen TOPMed |
|
|
rs1359378343 CA404882742 |
249 | W>C | No |
ClinGen gnomAD |
|
|
rs777648039 CA9319082 |
249 | W>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9319083 rs746972412 |
250 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA404882789 rs1319930566 |
251 | I>L | No |
ClinGen TOPMed gnomAD |
|
|
CA9319084 rs756989374 |
251 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404882792 rs1319930566 |
251 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs780973429 CA9319085 |
252 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA306280197 rs200288081 |
253 | I>M | No |
ClinGen 1000Genomes TOPMed |
|
|
CA404882854 rs1313396598 |
255 | T>A | No |
ClinGen gnomAD |
|
|
CA9319086 rs116675472 |
256 | N>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs143568852 CA9319087 |
257 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs748702633 CA9319089 |
258 | C>Y | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 259 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA306281193 rs367687762 |
263 | I>N | No |
ClinGen ESP |
|
|
CA404883939 rs1601252638 |
263 | I>V | No |
ClinGen Ensembl |
|
|
CA9319119 rs767486527 |
265 | C>* | No |
ClinGen ExAC gnomAD |
|
|
rs1265270512 CA404883954 |
265 | C>R | No |
ClinGen gnomAD |
|
|
rs761720601 CA9319118 |
265 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1250558529 CA404883991 |
267 | M>V | No |
ClinGen gnomAD |
|
|
rs200072144 CA306281216 |
269 | R>C | No |
ClinGen TOPMed |
|
|
rs183729370 CA9319121 |
269 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA306281229 rs143159618 |
272 | S>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9319122 rs143159618 |
272 | S>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA404884077 rs1601252731 |
273 | F>S | No |
ClinGen Ensembl |
|
|
rs536731978 CA9319124 |
275 | T>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs536731978 CA9319125 |
275 | T>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs747700700 CA9319126 |
275 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751625714 CA9319128 |
276 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747565108 CA306281254 |
277 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9319129 rs747565108 |
277 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771135039 CA9319130 |
280 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs771135039 CA404884171 |
280 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA404884179 rs1390604035 |
281 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1193082036 CA404884200 |
282 | M>T | No |
ClinGen TOPMed |
|
|
rs777122683 CA9319131 |
282 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA404884229 rs1488940642 |
284 | Q>* | No |
ClinGen TOPMed |
|
|
rs147481044 CA306281266 |
284 | Q>R | No |
ClinGen ESP TOPMed |
|
|
CA9319168 rs763501011 |
287 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9319169 rs567941241 |
287 | R>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1443114041 CA404884398 |
289 | A>S | No |
ClinGen gnomAD |
|
| TCGA novel | 289 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9319171 rs778338254 |
290 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756399343 CA404884431 |
291 | L>I | No |
ClinGen ExAC gnomAD |
|
|
rs780460489 CA306281477 |
294 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA306281483 rs35614860 VAR_033859 |
296 | S>A | No |
ClinGen UniProt Ensembl dbSNP |
|
|
CA404884555 rs1431758197 |
297 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1336276076 CA404884578 |
298 | I>F | No |
ClinGen gnomAD |
|
|
CA9319176 rs143787772 |
300 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs143787772 CA9319177 |
300 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA9319175 rs749495614 |
300 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9319180 rs776652227 COSM1680812 |
304 | A>T | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs769709165 COSM182354 CA9319182 |
307 | V>M | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA9319183 rs775485484 |
309 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA9319186 rs200500683 |
310 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763850904 CA9319185 |
310 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1372690710 CA404885186 |
311 | G>S | No |
ClinGen gnomAD |
|
|
rs373999531 CA9319219 |
316 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA404885334 rs1430340057 |
317 | V>I | No |
ClinGen gnomAD |
|
|
CA9319221 rs749182786 |
318 | Q>* | No |
ClinGen ExAC |
|
|
rs1302428215 CA404885372 |
319 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1302428215 CA404885376 |
319 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
CA404885412 rs1406221694 |
320 | V>F | No |
ClinGen gnomAD |
|
|
CA9319222 rs768489242 |
322 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA404885487 rs774085094 |
323 | H>D | No |
ClinGen ExAC gnomAD |
|
|
CA9319223 rs774085094 |
323 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA404885549 rs1272299725 |
325 | T>N | No |
ClinGen gnomAD |
|
|
CA404885544 rs1601253776 |
325 | T>P | No |
ClinGen Ensembl |
|
|
rs1245924436 CA404885555 |
326 | P>T | No |
ClinGen gnomAD |
|
|
CA9319226 rs139952910 |
327 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA404885644 rs1210510004 |
328 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA404885661 rs1210510004 |
328 | L>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1210510004 CA404885665 |
328 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA404885718 rs1601253824 |
330 | K>E | No |
ClinGen Ensembl |
|
|
rs760140411 CA404885785 |
331 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs1446396882 CA404885838 |
334 | H>D | No |
ClinGen TOPMed |
|
|
CA404885846 rs1601253847 |
334 | H>P | No |
ClinGen Ensembl |
|
|
CA404885849 rs1243666915 |
334 | H>Q | No |
ClinGen gnomAD |
|
|
rs749558575 CA9319229 |
335 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 337 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9319231 COSM993196 rs765629684 |
339 | T>M | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs764360429 CA9319234 |
340 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs758669474 CA9319233 |
340 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA306281620 rs929034544 |
341 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA9319235 rs751859175 |
342 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA404886162 rs1434218135 |
343 | G>V | No |
ClinGen TOPMed |
|
|
rs144897155 CA9319246 |
344 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
COSM1733720 CA9319245 rs770414685 |
344 | R>W | pancreas [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs1183701614 CA404886191 |
345 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1183701614 CA404886187 |
345 | Q>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1437579730 CA404886193 |
345 | Q>R | No |
ClinGen TOPMed |
|
|
CA9319247 rs368473090 |
348 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA404886240 rs1173763412 |
349 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
rs115008160 COSM1203268 CA306282136 |
350 | T>M | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes TOPMed gnomAD |
|
rs1281990552 CA404886261 |
352 | V>M | No |
ClinGen TOPMed |
|
|
rs867780648 CA306282142 |
354 | Q>K | No |
ClinGen Ensembl |
|
| TCGA novel | 354 | Q>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA404886304 rs1487929771 |
354 | Q>R | No |
ClinGen gnomAD |
|
|
rs1221943463 CA404886337 |
356 | D>G | No |
ClinGen gnomAD |
|
|
CA9319253 rs373913225 |
356 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs757623718 CA9319254 |
357 | I>S | No |
ClinGen ExAC gnomAD |
|
|
rs369939168 CA306282146 |
357 | I>V | No |
ClinGen Ensembl |
|
|
rs1233702498 CA404886403 |
361 | H>L | No |
ClinGen gnomAD |
|
|
CA404886401 rs1233702498 |
361 | H>P | No |
ClinGen gnomAD |
|
|
rs1233702498 CA404886402 |
361 | H>R | No |
ClinGen gnomAD |
|
|
CA9319256 rs750520624 |
362 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA404886429 rs1376117816 |
363 | I>V | No |
ClinGen TOPMed |
|
|
CA306282160 rs867187555 |
364 | E>* | No |
ClinGen TOPMed gnomAD |
|
|
rs867187555 CA306282157 |
364 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1601255842 CA404886581 |
367 | I>F | No |
ClinGen Ensembl |
|
|
CA9319281 rs758398006 |
368 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs942209162 CA306282463 |
369 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
rs777512908 CA9319282 |
370 | K>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA306282466 rs1003037538 |
373 | E>* | No |
ClinGen gnomAD |
|
|
rs1391106021 CA404887612 |
373 | E>D | No |
ClinGen gnomAD |
|
|
CA404887606 rs1157249074 |
373 | E>V | No |
ClinGen gnomAD |
|
|
rs751403905 CA9319283 |
374 | F>Y | No |
ClinGen ExAC gnomAD |
|
|
CA404887647 rs1320991782 |
375 | S>P | No |
ClinGen gnomAD |
|
|
CA404887673 rs1601258436 |
376 | V>A | No |
ClinGen Ensembl |
|
|
CA9319285 COSM292856 rs73923185 |
376 | V>M | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1382044270 CA404887678 |
377 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA9319286 rs745535358 |
378 | E>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 379 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1389989281 CA404887741 |
379 | A>V | No |
ClinGen TOPMed |
|
|
CA9319290 rs747088880 |
380 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA9319292 rs115012911 |
386 | T>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA404887897 rs1473868900 |
389 | N>S | No |
ClinGen TOPMed |
|
|
CA404887904 rs1208896136 |
390 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
CA9319293 rs772492036 |
391 | V>G | No |
ClinGen ExAC gnomAD |
|
|
rs1568331900 CA404887917 |
391 | V>M | No |
ClinGen Ensembl |
|
|
COSM239546 CA9319294 rs770862374 |
392 | R>* | prostate [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA9319296 COSM993198 rs761016118 |
392 | R>Q | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA9319297 rs766365920 |
393 | R>I | No |
ClinGen ExAC gnomAD |
|
|
rs1175545179 CA632377020 |
395 | C>* | No |
ClinGen gnomAD |
|
|
CA404887969 rs1414199257 |
395 | C>Y | No |
ClinGen gnomAD |
|
|
rs1327779336 CA404887994 |
396 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs763969117 CA9319300 |
396 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1405111508 CA404888006 |
397 | I>V | No |
ClinGen gnomAD |
|
|
COSM993200 CA9319327 rs755888557 |
401 | A>V | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA306282558 rs867339884 |
402 | A>T | No |
ClinGen Ensembl |
|
|
rs201394581 CA9319329 |
403 | H>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA404888187 rs201394581 |
403 | H>Y | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9319330 rs754481734 |
405 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA9319332 rs748598406 |
406 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs898460308 CA306282574 |
408 | K>E | No |
ClinGen TOPMed |
|
|
rs375651453 CA9319336 |
413 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs16995781 CA9319335 COSM3692539 VAR_052167 |
413 | R>W | large_intestine [Cosmic] | No |
ClinGen cosmic curated UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA306282588 rs906124168 |
418 | L>P | No |
ClinGen Ensembl |
|
|
CA9319339 rs746099639 |
419 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9319340 rs769848606 |
420 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA404888426 rs1263791625 |
420 | G>R | No |
ClinGen gnomAD |
|
|
rs373510240 CA9319375 |
423 | P>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA404888555 rs1331393434 |
423 | P>R | No |
ClinGen TOPMed |
|
|
rs1568332204 CA404888570 |
424 | D>E | No |
ClinGen Ensembl |
|
|
CA9319376 rs143128503 |
425 | L>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1257589428 CA404888602 |
427 | A>S | No |
ClinGen gnomAD |
|
|
rs1380195432 CA404888620 |
428 | K>M | No |
ClinGen TOPMed |
|
|
rs749488327 CA306282667 |
429 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs202092448 CA9319378 |
429 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs749488327 CA9319377 |
429 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778928909 CA9319379 |
430 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA404888645 rs1601259710 |
431 | A>T | No |
ClinGen Ensembl |
|
|
rs1442248037 CA404888677 |
434 | A>D | No |
ClinGen TOPMed gnomAD |
|
|
CA404888673 rs1244166295 |
434 | A>T | No |
ClinGen gnomAD |
|
|
CA404888680 rs1442248037 |
434 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1481775177 CA404888722 |
438 | Q>E | No |
ClinGen gnomAD |
|
|
CA404888760 rs1252085064 |
441 | R>P | No |
ClinGen gnomAD |
|
|
rs1252085064 CA404888758 |
441 | R>Q | No |
ClinGen gnomAD |
|
|
rs746914385 CA9319380 |
441 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201715848 CA306282677 |
442 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes NCI-TCGA gnomAD |
|
rs566524138 CA306282680 |
442 | R>H | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
| TCGA novel | 444 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA306282683 rs1042865795 |
445 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs771041739 CA9319383 |
446 | K>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771041739 CA9319384 |
446 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759364414 CA9319385 |
446 | K>M | No |
ClinGen ExAC gnomAD |
|
|
rs762712056 CA306282692 |
446 | K>N | No |
ClinGen Ensembl |
|
|
rs1411701936 CA404888859 |
448 | E>D | No |
ClinGen gnomAD |
|
|
rs548872854 CA9319387 |
450 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9319386 rs151138959 |
450 | T>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 451 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA404888890 rs1385247568 |
451 | L>R | No |
ClinGen gnomAD |
|
|
CA9319389 rs36078704 |
453 | R>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs201202222 CA9319390 |
453 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9319391 rs762281422 |
454 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs1402613204 CA404888911 |
454 | Q>K | No |
ClinGen gnomAD |
|
|
CA404888942 rs1487959074 |
456 | A>G | No |
ClinGen gnomAD |
|
|
rs1274661311 CA404888931 |
456 | A>T | No |
ClinGen gnomAD |
|
|
rs756415370 CA404888953 |
457 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs374289129 CA9319393 |
457 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs756415370 CA9319394 |
457 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA9319395 rs766714276 |
459 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA9319397 rs755197633 |
461 | H>P | No |
ClinGen ExAC gnomAD |
|
|
CA404889009 rs1349304098 |
461 | H>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA404889037 rs1456609816 |
463 | G>E | No |
ClinGen gnomAD |
|
|
CA404889044 rs1295456217 |
464 | R>C | No |
ClinGen gnomAD |
|
|
CA9319398 rs138056361 |
464 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA404889052 rs138056361 |
464 | R>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1010409631 CA306282726 |
466 | P>R | No |
ClinGen Ensembl |
|
|
rs1296859610 CA404889071 |
466 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA9319399 rs58183479 |
467 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1274780747 CA404889107 |
468 | T>I | No |
ClinGen gnomAD |
|
|
rs758581521 CA9319400 |
469 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1320542701 CA404889110 |
469 | P>T | No |
ClinGen gnomAD |
|
|
CA306282734 rs138370022 |
471 | G>V | No |
ClinGen ESP TOPMed |
|
|
rs1448502890 CA404889207 |
472 | S>F | No |
ClinGen TOPMed |
|
|
rs1389875366 CA404889236 |
473 | H>L | No |
ClinGen TOPMed |
|
|
CA306282737 rs954804697 |
473 | H>Y | No |
ClinGen gnomAD |
|
|
CA404889269 rs1189727765 |
474 | S>L | No |
ClinGen gnomAD |
|
|
CA404889271 rs1413192667 |
475 | G>S | No |
ClinGen gnomAD |
|
|
rs375956701 CA9319402 |
475 | G>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA306282743 rs376747939 |
477 | V>A | No |
ClinGen Ensembl |
|
|
rs1350673391 CA404889321 |
478 | P>R | No |
ClinGen gnomAD |
|
|
rs1386137883 CA404889362 |
480 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
rs769617454 CA9319403 |
480 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs1488880166 CA404889421 |
481 | G>D | No |
ClinGen TOPMed |
No associated diseases with Q9Y6V7
Functions
| Description | ||
|---|---|---|
| EC Number | 3.6.4.13 | Acting on ATP; involved in cellular and subcellular movement |
| Subcellular Localization |
|
|
| PANTHER Family | ||
| PANTHER Subfamily | ||
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
2 GO annotations of cellular component
| Name | Definition |
|---|---|
| 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. |
4 GO annotations of molecular function
| Name | Definition |
|---|---|
| ATP binding | Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator. |
| ATP hydrolysis activity | Catalysis of the reaction: ATP + H2O = ADP + H+ phosphate. ATP hydrolysis is used in some reactions as an energy source, for example to catalyze a reaction or drive transport against a concentration gradient. |
| RNA binding | Binding to an RNA molecule or a portion thereof. |
| RNA helicase activity | Unwinding of an RNA helix, driven by ATP hydrolysis. |
3 GO annotations of biological process
| Name | Definition |
|---|---|
| positive regulation of cell growth | Any process that activates or increases the frequency, rate, extent or direction of cell growth. |
| regulation of rRNA stability | Any process that modulates the propensity of rRNA molecules to degradation. Includes processes that both stabilize and destabilize rRNAs. |
| rRNA processing | Any process involved in the conversion of a primary ribosomal RNA (rRNA) transcript into one or more mature rRNA molecules. |
14 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q8NHQ9 | DDX55 | ATP-dependent RNA helicase DDX55 | Homo sapiens (Human) | PR |
| P60842 | EIF4A1 | Eukaryotic initiation factor 4A-I | Homo sapiens (Human) | PR |
| Q14240 | EIF4A2 | Eukaryotic initiation factor 4A-II | Homo sapiens (Human) | PR |
| Q9H0S4 | DDX47 | Probable ATP-dependent RNA helicase DDX47 | Homo sapiens (Human) | PR |
| Q8TDD1 | DDX54 | ATP-dependent RNA helicase DDX54 | Homo sapiens (Human) | PR |
| Q9GZR7 | DDX24 | ATP-dependent RNA helicase DDX24 | Homo sapiens (Human) | PR |
| Q92499 | DDX1 | ATP-dependent RNA helicase DDX1 | Homo sapiens (Human) | PR |
| Q9NY93 | DDX56 | Probable ATP-dependent RNA helicase DDX56 | Homo sapiens (Human) | PR |
| Q9NUL7 | DDX28 | Probable ATP-dependent RNA helicase DDX28 | Homo sapiens (Human) | PR |
| Q7L014 | DDX46 | Probable ATP-dependent RNA helicase DDX46 | Homo sapiens (Human) | PR |
| Q4FZF3 | Ddx49 | Probable ATP-dependent RNA helicase DDX49 | Mus musculus (Mouse) | PR |
| Q8L4E9 | Os07g0633500 | DEAD-box ATP-dependent RNA helicase 36 | Oryza sativa subsp japonica (Rice) | PR |
| Q9FZ92 | RH44 | Putative DEAD-box ATP-dependent RNA helicase 44 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9SA27 | RH36 | DEAD-box ATP-dependent RNA helicase 36 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MAGFAELGLS | SWLVEQCRQL | GLKQPTPVQL | GCIPAILEGR | DCLGCAKTGS | GKTAAFVLPI |
| 70 | 80 | 90 | 100 | 110 | 120 |
| LQKLSEDPYG | IFCLVLTPTR | ELAYQIAEQF | RVLGKPLGLK | DCIIVGGMDM | VAQALELSRK |
| 130 | 140 | 150 | 160 | 170 | 180 |
| PHVVIATPGR | LADHLRSSNT | FSIKKIRFLV | MDEADRLLEQ | GCTDFTVDLE | AILAAVPARR |
| 190 | 200 | 210 | 220 | 230 | 240 |
| QTLLFSATLT | DTLRELQGLA | TNQPFFWEAQ | APVSTVEQLD | QRYLLVPEKV | KDAYLVHLIQ |
| 250 | 260 | 270 | 280 | 290 | 300 |
| RFQDEHEDWS | IIIFTNTCKT | CQILCMMLRK | FSFPTVALHS | MMKQKERFAA | LAKFKSSIYR |
| 310 | 320 | 330 | 340 | 350 | 360 |
| ILIATDVASR | GLDIPTVQVV | INHNTPGLPK | IYIHRVGRTA | RAGRQGQAIT | LVTQYDIHLV |
| 370 | 380 | 390 | 400 | 410 | 420 |
| HAIEEQIKKK | LEEFSVEEAE | VLQILTQVNV | VRRECEIKLE | AAHFDEKKEI | NKRKQLILEG |
| 430 | 440 | 450 | 460 | 470 | 480 |
| KDPDLEAKRK | AELAKIKQKN | RRFKEKVEET | LKRQKAGRAG | HKGRPPRTPS | GSHSGPVPSQ |
| GLV |