Q9H0S4
PR
Gene name |
DDX47 |
Protein name |
Probable ATP-dependent RNA helicase DDX47 |
Names |
DEAD box protein 47 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:51202 |
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
2 structures for Q9H0S4
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 3BER | X-ray | 140 A | A | 5-230 | PDB |
| AF-Q9H0S4-F1 | Predicted | AlphaFoldDB |
406 variants for Q9H0S4
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs201803737 RCV001261391 |
377 | R>S | Intellectual disability [ClinVar] | Yes |
ClinVar dbSNP |
|
rs756056430 CA6457878 |
2 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383964280 rs1032266198 |
4 | P>A | No |
ClinGen TOPMed |
|
|
CA233072613 rs1032266198 |
4 | P>S | No |
ClinGen TOPMed |
|
|
CA6457879 rs138450211 |
5 | E>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA233072618 rs990747006 |
6 | E>G | No |
ClinGen TOPMed |
|
|
rs565789222 CA383964304 |
7 | H>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1317213677 CA383964299 |
7 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA233072627 rs927921236 |
8 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
VAR_083613 rs577622688 CA6457881 |
8 | D>Y | found in a patient with a neurodevelopmental disorder; unknown pathological significance [UniProt] | No |
ClinGen UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs1381546086 CA383964317 |
9 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1209190560 CA383964319 |
10 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
CA233072630 rs970354148 |
10 | P>Q | No |
ClinGen Ensembl |
|
|
rs1209190560 CA383964320 |
10 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA233072635 rs777508264 |
11 | T>A | No |
ClinGen gnomAD |
|
|
CA383964326 rs1480227856 |
11 | T>I | No |
ClinGen TOPMed |
|
|
CA383964323 rs777508264 |
11 | T>P | No |
ClinGen gnomAD |
|
|
CA383964324 rs777508264 |
11 | T>S | No |
ClinGen gnomAD |
|
|
CA233072639 rs983186320 |
12 | E>A | No |
ClinGen Ensembl |
|
|
CA6457883 rs748360488 |
13 | A>E | No |
ClinGen ExAC gnomAD |
|
|
CA6457885 rs376093913 |
15 | Q>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA383964350 rs758831201 |
15 | Q>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6457884 rs758831201 |
15 | Q>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383964354 rs1426279313 |
16 | P>A | No |
ClinGen gnomAD |
|
|
rs145684455 CA6457886 |
16 | P>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1592319859 CA383964361 |
17 | I>T | No |
ClinGen Ensembl |
|
|
rs111506767 CA6457887 |
18 | V>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs111506767 CA383964367 |
18 | V>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA233072666 rs974608212 |
19 | E>A | No |
ClinGen gnomAD |
|
|
rs974608212 CA383964372 |
19 | E>G | No |
ClinGen gnomAD |
|
|
CA383964384 rs1339326348 |
21 | E>K | No |
ClinGen gnomAD |
|
|
CA6457889 rs748842491 |
22 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768267921 CA6457890 |
24 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1345672377 CA383964425 |
26 | F>L | No |
ClinGen gnomAD |
|
|
CA383964427 rs1218356864 |
27 | K>E | No |
ClinGen gnomAD |
|
|
CA6457892 rs774213234 |
28 | D>E | No |
ClinGen ExAC |
|
|
CA6457920 rs375909889 |
30 | G>A | No |
ClinGen ESP ExAC gnomAD |
|
| TCGA novel | 30 | G>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs371987604 CA6457919 |
30 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6457921 rs1555096121 |
33 | D>N | No |
ClinGen Ensembl |
|
|
CA383964515 rs202215338 |
38 | A>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs202215338 CA6457923 |
38 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA383964540 rs757706233 |
42 | L>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6457926 rs139017886 |
43 | G>A | No |
ClinGen ESP ExAC gnomAD |
|
|
CA383964567 rs1257187513 |
46 | K>Q | No |
ClinGen TOPMed |
|
|
CA383964587 rs1193444691 |
49 | K>Q | No |
ClinGen gnomAD |
|
|
rs1051374 CA383964599 |
50 | I>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6457930 rs747668474 |
50 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA6457929 rs780667754 |
50 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1458611511 CA383964601 |
51 | Q>E | No |
ClinGen gnomAD |
|
|
rs149459936 CA6457932 |
52 | I>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA383964612 rs1288723628 |
52 | I>S | No |
ClinGen TOPMed |
|
|
CA383964626 rs1248930731 |
54 | A>V | No |
ClinGen gnomAD |
|
|
CA383964633 rs1189237068 |
55 | I>T | No |
ClinGen gnomAD |
|
|
rs1416933043 CA383964630 |
55 | I>V | No |
ClinGen gnomAD |
|
|
CA6457933 rs746640214 |
56 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1241527595 CA383964650 |
58 | A>S | No |
ClinGen TOPMed |
|
| TCGA novel | 61 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs962296815 CA383965725 |
62 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA6457956 rs79205854 |
62 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA233074088 rs962296815 |
62 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
CA6457957 rs369822703 |
64 | I>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs937839351 CA233074089 |
65 | I>F | No |
ClinGen TOPMed gnomAD |
|
|
CA6457958 rs530449458 |
65 | I>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs774308181 CA6457959 |
67 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1253500620 CA383965855 |
71 | G>S | No |
ClinGen TOPMed |
|
|
CA233074090 rs1056537877 |
73 | G>E | No |
ClinGen TOPMed |
|
| TCGA novel | 73 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA383965924 rs1259493517 |
76 | G>S | No |
ClinGen gnomAD |
|
|
rs767663482 CA6457961 |
77 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA233074092 rs1037476153 |
79 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1389362785 CA383966004 |
81 | P>A | No |
ClinGen TOPMed |
|
|
CA383966022 rs1453091799 |
82 | I>V | No |
ClinGen gnomAD |
|
|
CA233074094 rs898503925 |
83 | L>R | No |
ClinGen TOPMed |
|
|
CA233074095 rs995677022 |
84 | N>I | No |
ClinGen TOPMed |
|
|
CA383966065 rs766816468 |
85 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6457966 rs766816468 COSM1360045 |
85 | A>T | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs754459426 CA6457967 |
85 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA383966097 rs1242801934 |
87 | L>R | No |
ClinGen gnomAD |
|
|
CA233074096 rs200300687 |
88 | E>G | No |
ClinGen Ensembl |
|
|
rs148567159 CA6457970 |
89 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs148567159 CA233074097 |
89 | T>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6457973 rs745491237 |
90 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA383966138 rs745491237 |
90 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780873695 CA6457972 |
90 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA383966156 rs1210397439 |
91 | Q>L | No |
ClinGen gnomAD |
|
|
CA383966159 rs1210397439 |
91 | Q>R | No |
ClinGen gnomAD |
|
|
CA6457977 rs768481784 COSM160381 |
92 | R>C | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA6457978 rs774303230 |
92 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA233074098 rs935610019 |
93 | L>* | No |
ClinGen Ensembl |
|
|
rs1381075661 CA383966224 |
95 | A>G | No |
ClinGen gnomAD |
|
|
rs761721659 CA233074099 |
95 | A>T | No |
ClinGen Ensembl |
|
|
rs150651316 CA6457980 |
96 | L>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1351752818 CA383966257 |
98 | L>F | No |
ClinGen gnomAD |
|
|
CA233074101 rs914221772 |
99 | T>A | No |
ClinGen gnomAD |
|
|
rs1323588018 CA383966272 |
99 | T>N | No |
ClinGen TOPMed |
|
|
rs914221772 CA233074100 |
99 | T>P | No |
ClinGen gnomAD |
|
|
CA6457981 rs201434704 |
100 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs201434704 CA233074102 |
100 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383966306 rs1565446959 |
101 | T>S | No |
ClinGen Ensembl |
|
|
rs777144660 CA6457984 |
102 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA383966313 rs1449375975 |
102 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
CA233074104 rs905309558 |
103 | E>* | No |
ClinGen TOPMed |
|
|
rs1329220185 CA383966344 |
104 | L>M | No |
ClinGen TOPMed |
|
|
CA6457985 rs759909940 |
105 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383966396 rs1222920657 |
107 | Q>* | No |
ClinGen gnomAD |
|
| VAR_083614 | 107 | Q>E | found in a patient with a neurodevelopmental disorder; unknown pathological significance [UniProt] | No | UniProt |
|
CA6457986 rs765689445 |
108 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1323049332 CA383966474 |
111 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
CA383966492 rs1213793753 |
112 | F>S | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 114 | A>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1272430766 CA383966532 |
114 | A>V | No |
ClinGen gnomAD |
|
|
CA233074106 rs143564114 |
116 | G>R | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA383966579 rs1238621356 |
117 | S>F | No |
ClinGen gnomAD |
|
|
CA6457987 rs753228090 |
119 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1480426269 CA383966605 |
119 | I>V | No |
ClinGen gnomAD |
|
|
CA6457988 rs756759966 |
121 | V>G | No |
ClinGen ExAC gnomAD |
|
|
rs1164314119 CA603494643 |
122 | Q>LQ* | No |
ClinGen gnomAD |
|
|
rs767012081 CA6457989 |
122 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6457990 rs750135155 |
123 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771117201 CA6458024 |
126 | I>L | No |
ClinGen ExAC gnomAD |
|
|
rs915533003 CA233074125 |
129 | G>E | No |
ClinGen gnomAD |
|
|
rs781312919 CA6458025 |
130 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA383966886 rs1198073357 |
130 | I>V | No |
ClinGen TOPMed |
|
|
CA383966926 rs1426392252 |
132 | S>* | No |
ClinGen gnomAD |
|
|
CA233074126 rs375771363 |
132 | S>T | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1434914557 CA383966944 |
133 | M>I | No |
ClinGen gnomAD |
|
|
rs746101128 CA6458026 |
135 | Q>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA383966965 rs746101128 |
135 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs1293471937 CA383966972 |
135 | Q>P | No |
ClinGen TOPMed |
|
|
rs1592323023 CA383966988 |
136 | S>Y | No |
ClinGen Ensembl |
|
|
CA383967010 rs1306675880 |
137 | L>F | No |
ClinGen TOPMed |
|
|
rs140772750 CA6458028 |
140 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1340027202 CA383967061 |
141 | K>I | No |
ClinGen TOPMed |
|
| TCGA novel | 141 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 142 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs763236842 CA383967089 |
143 | P>S | No |
ClinGen ExAC gnomAD |
|
| rs769535432 | 143 | P>T | Variant assessed as Somatic; 4.625e-05 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs763236842 CA6458030 |
143 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs1045498655 CA233074127 |
144 | H>R | No |
ClinGen gnomAD |
|
|
rs769181817 CA6458031 |
144 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1592323055 CA383967118 |
145 | I>V | No |
ClinGen Ensembl |
|
|
CA383967142 rs1483894584 |
146 | I>M | No |
ClinGen gnomAD |
|
|
CA383967152 rs1278854960 |
147 | I>T | No |
ClinGen TOPMed |
|
|
CA6458053 rs774876536 |
149 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA233074159 rs891929729 |
150 | P>A | No |
ClinGen TOPMed |
|
|
rs748648681 CA6458054 |
152 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6458055 rs770402879 |
152 | R>Q | No |
ClinGen ExAC |
|
|
CA6458056 rs144619888 |
155 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA233074160 rs565158085 |
155 | D>V | No |
ClinGen 1000Genomes |
|
|
CA383967223 rs1334210891 |
158 | E>K | No |
ClinGen gnomAD |
|
|
CA6458057 rs369606390 |
159 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs561946857 CA6458058 |
160 | T>M | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 161 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1260376643 CA383967256 |
162 | G>V | No |
ClinGen gnomAD |
|
|
CA6458061 rs763978447 |
164 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs1565447242 CA383967284 |
166 | R>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA383967313 rs1249295426 |
170 | Y>* | No |
ClinGen TOPMed gnomAD |
|
|
CA383967334 rs1189426645 |
173 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
rs767293465 CA6458066 |
174 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs757275803 CA6458065 |
174 | D>N | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 177 | D>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA233074162 rs1033312305 |
177 | D>V | No |
ClinGen TOPMed |
|
|
rs1374744489 CA383967358 |
177 | D>Y | No |
ClinGen gnomAD |
|
|
rs756098025 CA6458069 |
178 | R>* | No |
ClinGen ExAC gnomAD |
|
|
rs756098025 CA6458068 |
178 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs199573191 CA6458071 |
178 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6458070 rs199573191 |
178 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs372585719 CA6458072 |
182 | M>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs372585719 CA383967384 |
182 | M>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1565447261 CA383967411 |
185 | E>A | No |
ClinGen Ensembl |
|
|
rs1565447265 CA383967420 |
186 | T>R | No |
ClinGen Ensembl |
|
|
rs778387970 CA6458094 |
188 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA6458093 rs369431237 |
188 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6458095 rs776606946 |
190 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776606946 CA6458096 |
190 | K>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6458097 rs779726921 |
191 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA383967473 rs1346707193 |
193 | K>E | No |
ClinGen gnomAD |
|
|
rs1263444668 CA383967480 |
194 | V>L | No |
ClinGen TOPMed |
|
|
CA6458098 rs372689788 COSM936937 |
197 | R>* | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA6458099 rs540178927 |
198 | D>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6458101 rs774098537 |
199 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs147868527 CA6458102 |
199 | R>Q | No |
ClinGen ESP ExAC gnomAD |
|
|
rs774098537 COSM181119 CA6458100 |
199 | R>W | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs1565447403 CA383967524 |
201 | T>R | No |
ClinGen Ensembl |
|
|
CA383967532 rs1592323484 |
202 | F>L | No |
ClinGen Ensembl |
|
|
rs1194035653 CA383967541 |
204 | F>L | No |
ClinGen gnomAD |
|
|
rs1565447410 CA383967554 |
206 | A>T | No |
ClinGen Ensembl |
|
|
rs748094560 CA233074217 |
208 | M>I | No |
ClinGen Ensembl |
|
|
rs766243168 CA6458105 |
208 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA383967574 rs1452867582 |
209 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
CA6458107 rs145316378 |
210 | K>E | No |
ClinGen ESP ExAC |
|
|
CA6458106 rs145316378 |
210 | K>Q | No |
ClinGen ESP ExAC |
|
|
rs1364495449 CA383967591 COSM936939 |
211 | K>N | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA6458108 rs201398006 |
211 | K>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6458124 rs145072532 |
212 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs145072532 CA6458125 |
212 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1462491513 CA383967887 |
214 | K>T | No |
ClinGen TOPMed gnomAD |
|
|
rs765300998 CA6458126 |
216 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs375924024 CA6458127 |
217 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA383967949 rs1444843568 |
217 | R>L | No |
ClinGen gnomAD |
|
|
rs1444843568 CA383967942 |
217 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA6458128 rs763099966 |
219 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA383968075 rs1261298340 |
224 | V>M | No |
ClinGen TOPMed |
|
|
CA6458129 rs764313939 |
225 | K>I | No |
ClinGen ExAC gnomAD |
|
|
rs149396944 CA6458130 |
226 | C>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA233074271 rs868464622 |
227 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA233074272 rs373805141 |
228 | V>A | No |
ClinGen ESP TOPMed |
|
|
CA6458133 rs201810188 |
228 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs754602251 CA6458134 |
230 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs370371389 CA6458136 |
231 | K>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
COSM936940 rs1001312981 CA233074273 |
232 | Y>* | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
CA6458138 rs200817485 |
234 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1175554486 CA383968296 |
234 | T>R | No |
ClinGen gnomAD |
|
|
rs746797541 CA6458139 |
236 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs1259751523 CA383968327 |
236 | E>Q | No |
ClinGen gnomAD |
|
|
CA6458140 rs770686747 |
241 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383968541 COSM936941 rs1213142476 |
243 | I>M | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA383968532 rs1411942067 |
243 | I>T | No |
ClinGen gnomAD |
|
|
rs1318204924 CA383968519 |
243 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA383968997 rs1565447682 |
252 | T>I | No |
ClinGen Ensembl |
|
|
CA6458160 rs757105604 |
253 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6458162 rs745599661 |
260 | E>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383969174 rs745599661 |
260 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383969274 rs1210408716 |
262 | A>G | No |
ClinGen TOPMed |
|
|
CA6458164 rs775449760 |
262 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1449203404 CA383969304 |
264 | N>D | No |
ClinGen gnomAD |
|
|
CA383969444 rs1592323944 |
267 | M>I | No |
ClinGen Ensembl |
|
|
rs1277681809 CA383969425 |
267 | M>L | No |
ClinGen TOPMed |
|
|
rs749376118 CA6458165 |
267 | M>R | No |
ClinGen ExAC gnomAD |
|
|
rs1242065206 CA383969481 |
269 | F>C | No |
ClinGen gnomAD |
|
|
rs768752802 CA6458166 |
272 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA383969532 rs774505295 |
272 | T>N | No |
ClinGen ExAC gnomAD |
|
|
rs774505295 CA6458167 |
272 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA383969572 rs1396449069 |
274 | N>D | No |
ClinGen gnomAD |
|
|
rs1342626742 CA383969582 |
274 | N>S | No |
ClinGen TOPMed |
|
| TCGA novel | 274 | N>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1454486529 CA383969593 |
275 | N>D | No |
ClinGen gnomAD |
|
|
CA6458168 rs762112479 |
276 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs1401963418 CA383969636 |
277 | Q>E | No |
ClinGen gnomAD |
|
|
rs1401963418 CA383969632 |
277 | Q>K | No |
ClinGen gnomAD |
|
|
CA233074332 rs886614693 |
277 | Q>R | No |
ClinGen Ensembl |
|
|
rs1318845026 CA383969656 |
278 | R>G | No |
ClinGen gnomAD |
|
|
rs1344539305 CA383969670 |
278 | R>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs766813348 CA6458172 |
284 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA6458173 rs368841789 |
284 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs372126671 CA233074333 |
285 | N>S | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA383969815 rs1374859932 |
286 | L>I | No |
ClinGen gnomAD |
|
|
rs763649730 CA6458175 |
289 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA383969917 rs1478546957 |
291 | I>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1463945119 CA383969911 |
291 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA383969927 rs1254092663 |
292 | P>T | No |
ClinGen gnomAD |
|
|
CA233074334 rs756911676 |
294 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
rs199916690 CA6458176 COSM181120 |
294 | H>R | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1158659296 CA383970050 |
298 | S>G | No |
ClinGen gnomAD |
|
|
CA6458178 rs140263583 |
298 | S>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs750241560 CA6458179 |
299 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA6458195 rs751105557 |
302 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761267089 COSM1360049 CA6458196 |
302 | R>H | large_intestine Variant assessed as Somatic; 4.628e-05 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs761267089 CA383970229 |
302 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 304 | G>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA383970250 rs1410807443 |
304 | G>E | No |
ClinGen gnomAD |
|
|
rs750046911 CA383970294 |
308 | K>M | No |
ClinGen ExAC gnomAD |
|
|
rs750046911 CA6458198 |
308 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs1468636952 CA383970308 |
309 | F>S | No |
ClinGen gnomAD |
|
|
CA383970374 rs1592324261 |
313 | A>S | No |
ClinGen Ensembl |
|
|
rs1348659187 CA383970382 |
313 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs755931822 CA6458200 |
314 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs145266858 CA233074393 |
314 | R>H | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs145266858 CA233074394 |
314 | R>L | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1418693205 CA383970413 |
315 | S>Y | No |
ClinGen gnomAD |
|
|
CA233074396 rs779886782 |
317 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6458201 rs779886782 |
317 | L>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA6458202 rs377764365 |
318 | L>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1196070271 CA383970526 |
321 | D>A | No |
ClinGen gnomAD |
|
|
CA383970516 rs778954535 |
321 | D>H | No |
ClinGen ExAC gnomAD |
|
|
rs778954535 CA6458204 |
321 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs373242027 CA6458206 |
322 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA6458207 rs778178055 |
324 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6458208 rs566247945 |
325 | R>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6458209 rs771003969 |
325 | R>Q | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 327 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 327 | L>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs777061310 CA6458210 |
327 | L>M | No |
ClinGen ExAC |
|
|
CA6458211 rs746182295 |
329 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA383970631 rs1168153881 |
330 | P>R | No |
ClinGen gnomAD |
|
|
rs377300940 CA383970627 |
330 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs377300940 CA6458212 |
330 | P>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1436600045 CA383970650 |
332 | V>I | No |
ClinGen gnomAD |
|
|
CA383970688 rs1402117317 |
335 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs142329297 CA6458215 |
337 | N>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA233074397 rs1000700016 |
339 | D>E | No |
ClinGen Ensembl |
|
|
CA233074398 rs1055846882 |
342 | T>A | No |
ClinGen Ensembl |
|
|
rs200857940 CA6458219 |
343 | H>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs765879487 CA6458218 |
343 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs912376072 CA233074551 |
347 | Y>C | No |
ClinGen Ensembl |
|
| TCGA novel | 348 | I>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA383972277 rs1252873456 |
348 | I>V | No |
ClinGen TOPMed |
|
|
rs746073969 CA383972317 |
350 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6458246 rs746073969 |
350 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1293685025 CA383972321 |
350 | R>P | No |
ClinGen TOPMed gnomAD |
|
|
CA233074553 rs778765032 |
351 | V>G | No |
ClinGen Ensembl |
|
|
rs756530038 CA6458247 |
353 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6458251 rs769181617 |
357 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA6458250 rs769181617 |
357 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs770311332 CA6458253 |
359 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs770311332 CA383972525 |
359 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA233074554 rs923616212 |
359 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA6458254 rs776407507 |
360 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1179019276 CA383972579 |
361 | G>R | No |
ClinGen gnomAD |
|
|
rs1375504041 CA383972629 |
362 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
rs769510425 CA6458256 |
362 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6458258 rs762790654 |
364 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs775459025 CA6458257 |
364 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6458259 rs764144574 |
367 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs749576831 CA6458297 |
370 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6458298 rs369627531 |
371 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 374 | L>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA383973914 rs1390384507 |
376 | Q>E | No |
ClinGen gnomAD |
|
|
rs1370071204 CA383973929 |
376 | Q>H | No |
ClinGen TOPMed |
|
|
CA6458299 rs760784271 |
376 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs201803737 CA6458300 |
377 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs557371913 CA6458301 COSM1360051 |
377 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs759688175 CA6458302 |
378 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA6458303 rs765430640 |
379 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 379 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA383973976 rs1240659826 |
380 | H>N | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 380 | H>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs942942957 CA233074682 |
380 | H>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA6458304 rs753028864 |
380 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1240659826 CA383973980 |
380 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs758770303 CA6458305 |
382 | I>F | No |
ClinGen ExAC gnomAD |
|
|
rs764742465 CA383974013 |
382 | I>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764742465 CA233074683 |
382 | I>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764742465 CA6458306 |
382 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1434519572 CA383974076 |
387 | P>L | No |
ClinGen TOPMed |
|
|
CA383974073 rs1174806458 |
387 | P>S | No |
ClinGen gnomAD |
|
|
rs1041049097 CA233074684 |
390 | P>L | No |
ClinGen Ensembl |
|
|
rs1218728624 CA383974148 |
391 | T>A | No |
ClinGen gnomAD |
|
|
rs1481983477 CA383974166 |
392 | Q>E | No |
ClinGen TOPMed |
|
|
rs779724816 CA6458309 |
392 | Q>L | No |
ClinGen ExAC gnomAD |
|
|
rs149616642 CA6458310 |
393 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6458311 rs144312388 |
394 | D>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs778577827 CA6458312 |
395 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA383974285 rs1340099889 |
396 | V>I | No |
ClinGen TOPMed |
|
|
rs1248125701 CA383974318 |
397 | M>I | No |
ClinGen gnomAD |
|
|
rs746931724 CA6458316 |
398 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA6458315 rs11547483 |
398 | M>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs935433297 CA233074685 |
399 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
rs770793118 CA6458317 |
399 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA383974383 rs1387576068 |
401 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA6458319 rs536938122 |
402 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs138411408 CA6458320 |
402 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs536938122 CA383974401 |
402 | R>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
COSM936943 CA6458322 rs763297686 |
403 | V>I | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA6458325 rs762415203 |
404 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6458324 rs751914782 |
404 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA383974458 rs762415203 |
404 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1157968344 CA383974490 |
407 | Q>* | No |
ClinGen TOPMed |
|
|
rs1471465485 CA383974539 |
408 | R>K | No |
ClinGen TOPMed |
|
|
CA383974554 rs1327472985 |
408 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
rs905132858 CA383974578 |
410 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
rs905132858 CA233074686 |
410 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
COSM1360052 rs201442242 CA6458327 |
411 | R>* | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA6458328 rs373273540 |
411 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs200036809 CA6458329 |
412 | M>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6458346 rs147834091 |
413 | E>G | No |
ClinGen 1000Genomes ExAC TOPMed |
|
|
rs373828821 CA6458345 |
413 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs373828821 CA6458344 |
413 | E>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6458348 rs144683545 |
416 | E>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA383975503 rs1453919668 |
417 | H>N | No |
ClinGen gnomAD |
|
|
CA6458349 rs764786623 |
417 | H>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM3667117 rs764786623 CA6458350 |
417 | H>R | liver [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs1382375769 CA383975621 |
420 | K>E | No |
ClinGen gnomAD |
|
|
CA233074981 rs922435104 |
421 | K>R | No |
ClinGen TOPMed |
|
|
rs758786404 CA6458353 |
423 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6458354 rs376772927 |
423 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs934033688 CA233074990 |
424 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA383975771 rs1343505452 |
424 | S>T | No |
ClinGen TOPMed |
|
|
CA383975800 rs745805168 |
425 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs745805168 CA6458357 |
425 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA233074996 rs200216894 |
425 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6458358 rs200216894 |
425 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA383975815 rs1273343520 |
426 | E>K | No |
ClinGen gnomAD |
|
|
rs545842625 CA6458359 |
430 | D>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1565449293 CA383975931 |
430 | D>Y | No |
ClinGen Ensembl |
|
|
CA6458362 rs370405455 |
431 | N>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs749342404 CA6458360 |
431 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749342404 CA233075002 |
431 | N>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1202065038 CA383975966 |
431 | N>Y | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 433 | D>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA233075012 rs75546205 |
435 | E>K | No |
ClinGen Ensembl |
|
|
rs1427763484 CA383976122 |
436 | G>V | No |
ClinGen TOPMed |
|
|
rs772557083 CA6458364 |
438 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1450397257 CA383976171 |
439 | G>S | No |
ClinGen gnomAD |
|
|
rs1388348750 CA383976238 |
442 | N>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1592326611 CA383976256 |
443 | K>R | No |
ClinGen Ensembl |
|
|
CA383976371 rs1467674748 |
448 | K>E | No |
ClinGen gnomAD |
|
|
CA6458367 rs766728578 |
448 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6458366 rs201164114 |
448 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6458369 rs180857936 |
452 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6458368 rs775095603 |
452 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA6458370 rs373820666 |
455 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM1360053 CA6458371 rs751210016 |
455 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs139905049 CA6458372 |
456 | R>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1234790983 CA383976536 |
456 | R>Y | No |
ClinGen TOPMed gnomAD |
No associated diseases with Q9H0S4
1 regional properties for Q9H0S4
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Small GTP-binding protein domain | 71 - 233 | IPR005225 |
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 | |
4 GO annotations of cellular component
| Name | Definition |
|---|---|
| membrane | A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it. |
| 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. |
| 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. |
4 GO annotations of biological process
| Name | Definition |
|---|---|
| extrinsic apoptotic signaling pathway via death domain receptors | The series of molecular signals in which a signal is conveyed from the cell surface to trigger the apoptotic death of a cell. The pathway starts with a ligand binding to a death domain receptor on the cell surface, and ends when the execution phase of apoptosis is triggered. |
| mRNA processing | Any process involved in the conversion of a primary mRNA transcript into one or more mature mRNA(s) prior to translation into polypeptide. |
| RNA splicing | The process of removing sections of the primary RNA transcript to remove sequences not present in the mature form of the RNA and joining the remaining sections to form the mature form of the RNA. |
| rRNA processing | Any process involved in the conversion of a primary ribosomal RNA (rRNA) transcript into one or more mature rRNA molecules. |
21 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| P53166 | MRH4 | ATP-dependent RNA helicase MRH4, mitochondrial | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast) | PR |
| P15424 | MSS116 | ATP-dependent RNA helicase MSS116, mitochondrial | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast) | PR |
| Q29S22 | DDX47 | Probable ATP-dependent RNA helicase DDX47 | Bos taurus (Bovine) | PR |
| 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 |
| Q9Y6V7 | DDX49 | Probable ATP-dependent RNA helicase DDX49 | 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 |
| Q9CWT6 | Ddx28 | Probable ATP-dependent RNA helicase DDX28 | Mus musculus (Mouse) | PR |
| Q9CWX9 | Ddx47 | Probable ATP-dependent RNA helicase DDX47 | Mus musculus (Mouse) | PR |
| Q7Y183 | RH10 | DEAD-box ATP-dependent RNA helicase 10 | Oryza sativa subsp japonica (Rice) | PR |
| Q8L4E9 | Os07g0633500 | DEAD-box ATP-dependent RNA helicase 36 | Oryza sativa subsp japonica (Rice) | PR |
| P34668 | ZK686.2 | Putative ATP-dependent RNA helicase ZK686.2 | Caenorhabditis elegans | PR |
| P34580 | T26G10.1 | Putative ATP-dependent RNA helicase T26G10.1 | Caenorhabditis elegans | PR |
| Q9SA27 | RH36 | DEAD-box ATP-dependent RNA helicase 36 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q8GY84 | RH10 | DEAD-box ATP-dependent RNA helicase 10 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MAAPEEHDSP | TEASQPIVEE | EETKTFKDLG | VTDVLCEACD | QLGWTKPTKI | QIEAIPLALQ |
| 70 | 80 | 90 | 100 | 110 | 120 |
| GRDIIGLAET | GSGKTGAFAL | PILNALLETP | QRLFALVLTP | TRELAFQISE | QFEALGSSIG |
| 130 | 140 | 150 | 160 | 170 | 180 |
| VQSAVIVGGI | DSMSQSLALA | KKPHIIIATP | GRLIDHLENT | KGFNLRALKY | LVMDEADRIL |
| 190 | 200 | 210 | 220 | 230 | 240 |
| NMDFETEVDK | ILKVIPRDRK | TFLFSATMTK | KVQKLQRAAL | KNPVKCAVSS | KYQTVEKLQQ |
| 250 | 260 | 270 | 280 | 290 | 300 |
| YYIFIPSKFK | DTYLVYILNE | LAGNSFMIFC | STCNNTQRTA | LLLRNLGFTA | IPLHGQMSQS |
| 310 | 320 | 330 | 340 | 350 | 360 |
| KRLGSLNKFK | AKARSILLAT | DVASRGLDIP | HVDVVVNFDI | PTHSKDYIHR | VGRTARAGRS |
| 370 | 380 | 390 | 400 | 410 | 420 |
| GKAITFVTQY | DVELFQRIEH | LIGKKLPGFP | TQDDEVMMLT | ERVAEAQRFA | RMELREHGEK |
| 430 | 440 | 450 | |||
| KKRSREDAGD | NDDTEGAIGV | RNKVAGGKMK | KRKGR |