Q9Y285
PR
Gene name |
FARSA (FARS, FARSL, FARSLA) |
Protein name |
Phenylalanine--tRNA ligase alpha subunit |
Names |
CML33, Phenylalanyl-tRNA synthetase alpha subunit, PheRS |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:2193 |
EC number |
6.1.1.20: Ligases forming aminoacyl-tRNA and related compounds |
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 Q9Y285
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 3L4G | X-ray | 330 A | A/C/E/G/I/K/M/O | 1-508 | PDB |
| AF-Q9Y285-F1 | Predicted | AlphaFoldDB |
443 variants for Q9Y285
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
VAR_084994 RCV001255421 CA305504171 rs941586004 |
256 | F>L | Rajab interstitial lung disease with brain calcifications 2 RILDBC2; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt TOPMed dbSNP gnomAD |
|
rs201276620 RCV002557956 CA9235197 RCV001091774 |
338 | R>C | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001255422 VAR_084995 rs1971301248 |
410 | N>K | Rajab interstitial lung disease with brain calcifications 2 RILDBC2; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinVar UniProt dbSNP |
|
CA404295826 rs1422047528 |
2 | A>T | No |
ClinGen gnomAD |
|
|
rs1381552335 CA404295803 |
3 | D>H | No |
ClinGen gnomAD |
|
|
rs141008356 CA305508932 |
4 | G>S | No |
ClinGen ESP gnomAD |
|
|
rs1239311203 CA404295745 |
5 | Q>* | No |
ClinGen gnomAD |
|
|
CA404295723 rs1180228084 |
5 | Q>H | No |
ClinGen TOPMed |
|
|
rs376335677 CA9235543 |
6 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA404295685 rs1421203589 |
7 | A>T | No |
ClinGen TOPMed |
|
|
rs868440760 CA305508927 |
7 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA404295662 rs1355762089 |
8 | E>* | No |
ClinGen gnomAD |
|
|
CA404295658 rs1331929658 |
8 | E>G | No |
ClinGen TOPMed |
|
|
CA404295664 rs1355762089 |
8 | E>Q | No |
ClinGen gnomAD |
|
|
rs778167551 CA305508912 |
9 | L>M | No |
ClinGen TOPMed gnomAD |
|
|
CA404295601 rs1353583528 |
9 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
CA404295591 rs1353583528 |
9 | L>R | No |
ClinGen TOPMed gnomAD |
|
|
rs778167551 CA404295611 |
9 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs373455085 CA404295512 |
12 | R>G | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA305508908 rs373455085 |
12 | R>W | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1361712363 CA404295492 |
13 | R>Q | No |
ClinGen gnomAD |
|
|
rs767910966 CA404295415 |
16 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767910966 CA9235541 |
16 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA305508890 rs868194488 |
19 | G>C | No |
ClinGen Ensembl |
|
|
rs759934148 CA9235540 |
20 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA404295281 rs1599655360 |
21 | L>P | No |
ClinGen Ensembl |
|
|
rs747427583 CA305508870 |
23 | S>G | No |
ClinGen Ensembl |
|
|
rs1421842439 CA404295224 |
23 | S>N | No |
ClinGen gnomAD |
|
|
CA9235539 rs572808042 |
25 | E>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA9235538 rs771449054 |
27 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA9235537 rs557983177 |
28 | A>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs776207817 CA9235536 |
28 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1209985194 CA404295022 |
29 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1322635190 CA404294959 |
31 | G>D | No |
ClinGen Ensembl |
|
|
rs768114039 CA9235535 |
31 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA404294934 rs1220116507 |
32 | M>V | No |
ClinGen gnomAD |
|
|
rs1341479589 CA404294897 |
33 | E>K | No |
ClinGen gnomAD |
|
|
CA404294810 rs1312149602 |
36 | A>T | No |
ClinGen TOPMed |
|
|
CA404294732 rs369666428 |
38 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs369666428 CA9235533 |
38 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1352172744 CA404294696 |
39 | G>A | No |
ClinGen gnomAD |
|
|
CA404294688 rs1324274433 |
40 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs771873394 CA9235532 |
43 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs1599655278 CA404294559 |
44 | L>F | No |
ClinGen Ensembl |
|
|
CA404294489 rs1478288397 |
46 | A>V | No |
ClinGen gnomAD |
|
|
CA404294447 rs1424315717 |
48 | G>D | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1476997886 CA404294471 |
48 | G>S | No |
ClinGen gnomAD |
|
|
CA9235531 rs745693122 |
49 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA9235506 rs755195431 |
52 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs781416046 COSM1390687 CA9235507 |
52 | E>K | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA9235505 rs751843855 |
54 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1216432088 CA404292770 |
55 | L>R | No |
ClinGen gnomAD |
|
|
rs750907399 CA9235502 |
56 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs758807793 CA9235504 |
56 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs151192853 CA305505749 |
57 | S>F | No |
ClinGen ESP gnomAD |
|
|
rs1230184925 CA404292644 |
60 | H>R | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 61 | W>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1599653804 CA404292618 |
61 | W>G | No |
ClinGen Ensembl |
|
|
CA9235500 rs201642345 |
65 | A>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs774206951 CA9235496 |
68 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404292367 rs1358519117 |
68 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs774206951 CA9235497 |
68 | E>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404292158 rs749068256 |
72 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9235493 rs773153100 |
72 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
COSM74615 rs749068256 CA9235494 |
72 | R>W | ovary Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA9235492 rs769630831 |
73 | E>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404292111 rs769630831 |
73 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs77667575 CA9235491 |
74 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA9235490 rs371762541 |
75 | S>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9235489 rs755105452 |
76 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA9235488 rs747205420 |
78 | A>P | No |
ClinGen ExAC gnomAD |
|
|
rs780291032 CA9235487 |
79 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9235485 rs950716095 |
79 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1276939701 CA404291884 |
81 | F>S | No |
ClinGen gnomAD |
|
|
rs758753731 CA9235484 |
82 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9235483 rs750779306 |
82 | R>Q | Variant assessed as Somatic; 4.675e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA404291848 rs1368678865 |
83 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
rs765719918 CA9235482 |
84 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9235480 rs767124931 |
86 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs767124931 CA9235479 |
86 | P>Q | No |
ClinGen ExAC gnomAD |
|
|
rs33925420 CA9235478 |
90 | A>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs774117028 CA9235477 |
91 | Q>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 92 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9235475 rs531296378 |
92 | S>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9235473 rs368745199 COSM181125 |
93 | E>K | Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA9235474 rs368745199 |
93 | E>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA404291607 rs1462608482 |
94 | L>P | No |
ClinGen gnomAD |
|
|
CA305505664 rs1009454679 |
94 | L>V | No |
ClinGen gnomAD |
|
| TCGA novel | 95 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9235472 rs748019599 |
95 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1185921800 CA404291594 |
95 | M>V | No |
ClinGen TOPMed |
|
|
CA9235457 rs750144571 |
96 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764916782 CA9235456 |
96 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1568445539 CA404291457 |
98 | P>S | No |
ClinGen Ensembl |
|
|
CA305505538 rs933660857 |
99 | S>G | No |
ClinGen TOPMed |
|
|
CA404291389 rs1455087439 |
100 | G>D | No |
ClinGen gnomAD |
|
|
rs1251921775 CA404291355 |
102 | V>M | No |
ClinGen TOPMed |
|
|
CA404291330 rs1192627403 |
103 | G>S | No |
ClinGen TOPMed |
|
| TCGA novel | 105 | S>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 107 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA404291212 rs1459235131 |
108 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1568445524 CA404291189 |
109 | S>Y | No |
ClinGen Ensembl |
|
|
CA9235454 rs368354009 |
110 | N>K | No |
ClinGen ESP ExAC gnomAD |
|
|
CA305505531 rs11538253 |
110 | N>S | No |
ClinGen Ensembl |
|
|
rs758225679 CA305505525 |
111 | K>M | No |
ClinGen gnomAD |
|
|
rs758225679 CA404291149 |
111 | K>R | No |
ClinGen gnomAD |
|
|
rs117345957 CA9235453 |
114 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9235451 rs775553627 |
114 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs117345957 CA9235452 COSM1750667 |
114 | R>W | urinary_tract [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA404290932 rs1236333030 |
117 | K>T | No |
ClinGen TOPMed gnomAD |
|
|
rs374396951 CA9235449 |
119 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA404290779 rs1235986080 |
121 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
rs771169495 CA9235447 |
122 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs749702369 CA9235446 |
123 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs145305261 CA9235445 |
124 | R>Q | Variant assessed as Somatic; 4.631e-05 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed |
|
rs989308549 CA305505513 |
124 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
CA9235444 rs756693833 |
125 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA9235443 rs753322142 |
127 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
| TCGA novel | 127 | R>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9235442 rs370398236 |
127 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA305505397 rs374285875 |
130 | D>E | No |
ClinGen Ensembl |
|
|
CA9235422 rs757804010 |
130 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs372267237 CA9235423 |
130 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs757804010 CA9235421 |
130 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1599653499 CA404288528 |
133 | E>G | No |
ClinGen Ensembl |
|
|
CA9235419 rs778375194 CA305505391 |
135 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9235420 rs745402939 |
135 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA404288470 rs1189769005 |
135 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 136 | V>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs61737507 CA9235417 |
137 | Q>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9235415 rs371047882 |
138 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9235416 rs556276607 |
138 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
CA9235413 rs199824396 |
139 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9235414 rs567765980 |
139 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9235412 rs767523994 |
140 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs767523994 CA404288352 |
140 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA9235410 rs774492543 |
143 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs202157711 CA9235408 |
144 | R>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed |
|
|
rs202157711 COSM1390686 CA9235409 |
144 | R>Q | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed |
|
COSM141548 CA305505347 rs1039345146 |
144 | R>W | upper_aerodigestive_tract Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs144968946 CA9235407 CA404288235 |
145 | G>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9235406 rs200098140 |
145 | G>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs144968946 CA305505335 |
145 | G>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs908655552 CA404288195 |
146 | G>A | No |
ClinGen TOPMed |
|
| rs746493788 | 146 | G>D | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs908655552 CA404288189 |
146 | G>E | No |
ClinGen TOPMed |
|
|
rs748549803 CA9235405 |
146 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA305505323 rs908655552 |
146 | G>V | No |
ClinGen TOPMed |
|
| rs746493788 | 147 | Q>T | Variant assessed as Somatic; 4.754e-05 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA404288147 rs1165871621 |
148 | A>S | No |
ClinGen gnomAD |
|
|
CA404288149 rs1165871621 |
148 | A>T | No |
ClinGen gnomAD |
|
|
CA305505315 rs149267610 |
152 | G>R | No |
ClinGen ESP |
|
| TCGA novel | 153 | E>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs367913864 CA9235400 |
155 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs767858371 CA305505304 |
160 | R>K | No |
ClinGen Ensembl |
|
|
rs1274513288 CA404287737 |
161 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
CA404287635 rs1256557462 |
164 | L>V | No |
ClinGen gnomAD |
|
|
CA9235394 rs752561439 |
167 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404286993 rs1432784081 |
170 | L>M | No |
ClinGen gnomAD |
|
|
CA404286938 rs1396858959 |
172 | T>S | No |
ClinGen gnomAD |
|
|
CA404286913 rs780168687 |
173 | Y>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9235371 rs145869101 |
175 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9235369 rs765485384 |
176 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs762094489 CA9235368 |
176 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA404286761 rs1237248868 |
179 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
CA9235366 rs754068448 |
182 | S>G | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA305504524 rs892791704 |
184 | S>G | No |
ClinGen gnomAD |
|
|
rs868205407 CA305504512 |
184 | S>N | No |
ClinGen Ensembl |
|
|
rs1310169133 CA404286520 |
185 | I>T | No |
ClinGen Ensembl |
|
|
rs564437437 CA9235363 |
186 | S>Y | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs978260472 CA305504504 |
191 | E>Q | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 192 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9235359 rs762393723 |
193 | S>R | No |
ClinGen ExAC TOPMed |
|
|
rs1244279431 CA404286084 |
196 | M>I | No |
ClinGen TOPMed |
|
|
CA404286068 rs1599652675 |
197 | I>V | No |
ClinGen Ensembl |
|
|
CA404286029 rs1412760544 |
198 | S>A | No |
ClinGen gnomAD |
|
|
CA404285776 rs1462703560 |
201 | S>F | No |
ClinGen gnomAD |
|
|
rs1162297267 CA404285790 |
201 | S>P | No |
ClinGen gnomAD |
|
|
rs1419014650 CA404285762 |
202 | W>* | No |
ClinGen gnomAD |
|
|
rs376853642 CA9235339 |
203 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9235337 rs761259713 |
203 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs376853642 CA9235338 COSM709895 |
203 | R>W | lung [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs768203539 CA9235335 |
205 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs142272380 CA9235336 |
205 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1271350205 CA404285641 |
206 | P>S | No |
ClinGen gnomAD |
|
|
CA9235333 rs775417991 |
207 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs1273579085 CA404285584 |
208 | K>R | No |
ClinGen gnomAD |
|
|
CA404285471 rs1297576329 |
211 | N>S | No |
ClinGen gnomAD |
|
|
rs749351203 CA305504384 |
215 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757323578 CA9235329 |
215 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs779038375 CA9235330 |
215 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs777993661 CA9235327 |
216 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA305504373 rs962981536 |
217 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs138804009 CA404285329 |
218 | L>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs138804009 CA9235326 |
218 | L>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1375169299 CA404285305 |
219 | P>L | No |
ClinGen gnomAD |
|
|
CA9235323 rs755374859 |
220 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA305504359 rs755374859 |
220 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752022213 CA9235321 |
221 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA9235320 rs766817321 |
221 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs867884282 CA305504335 |
222 | G>D | No |
ClinGen Ensembl |
|
|
CA9235319 rs761326464 |
222 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs1599652540 CA404285215 |
223 | H>P | No |
ClinGen Ensembl |
|
|
CA404285204 rs1479513777 |
223 | H>Q | No |
ClinGen gnomAD |
|
|
rs774835795 CA305504331 |
223 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA404285169 rs1599652536 |
225 | H>P | No |
ClinGen Ensembl |
|
|
rs776006254 CA9235318 |
226 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1300585533 CA404285105 |
228 | L>F | No |
ClinGen gnomAD |
|
|
CA404285077 rs1599652530 |
230 | V>G | No |
ClinGen Ensembl |
|
|
CA9235316 rs760393206 |
231 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9235315 rs775334415 |
231 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs774296772 CA9235312 |
232 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA305504323 rs774296772 |
232 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749325122 CA9235310 |
234 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA305504306 rs764437699 |
235 | R>* | No |
ClinGen Ensembl |
|
|
rs1434642387 CA404285023 |
236 | Q>E | No |
ClinGen TOPMed gnomAD |
|
|
rs777712028 CA9235309 |
237 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1599652442 CA404284901 |
243 | F>V | No |
ClinGen Ensembl |
|
|
CA9235288 rs781333030 |
245 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781333030 CA404284889 |
245 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs929745794 CA305504186 |
246 | M>T | No |
ClinGen Ensembl |
|
|
CA9235287 rs768866844 |
247 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1282941689 CA404284815 |
250 | N>D | No |
ClinGen gnomAD |
|
| TCGA novel | 250 | N>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA404284780 rs1420743978 |
251 | F>L | No |
ClinGen TOPMed |
|
|
rs750867053 CA305504175 |
252 | I>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM991542 rs750867053 CA9235283 |
252 | I>T | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs1292485607 CA404284726 |
254 | S>N | No |
ClinGen gnomAD |
|
|
CA305504169 rs143258144 |
260 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1295515954 CA404284626 |
260 | D>N | No |
ClinGen gnomAD |
|
|
CA404284604 rs1326398609 |
261 | A>T | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 264 | Q>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs752268407 CA9235280 |
267 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA404284479 rs1385800414 |
267 | Q>H | No |
ClinGen gnomAD |
|
|
rs1026604553 CA305504166 |
271 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
rs375272364 CA9235279 COSM3692383 |
271 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs375272364 CA404284418 |
271 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1241498868 CA404284371 |
275 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA9235276 rs762837081 |
278 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
| rs764095148 | 278 | F>missing | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9235273 rs1555757192 |
279 | L>I | No |
ClinGen Ensembl |
|
|
CA404284340 rs1227248695 |
279 | L>P | No |
ClinGen TOPMed |
|
|
rs772972956 CA9235272 |
280 | R>* | No |
ClinGen ExAC gnomAD |
|
|
CA9235271 rs569511768 |
280 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1172961154 CA404282252 |
282 | P>A | No |
ClinGen gnomAD |
|
|
rs1172961154 CA404282249 |
282 | P>S | No |
ClinGen gnomAD |
|
|
rs542928808 CA404282208 |
283 | A>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9235250 rs542928808 |
283 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA404282121 rs1469360293 |
285 | A>T | No |
ClinGen gnomAD |
|
|
CA9235247 rs776597184 |
286 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9235246 rs764130921 |
287 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs760843231 CA9235245 |
289 | P>T | No |
ClinGen ExAC |
|
|
rs373922716 CA9235244 |
290 | M>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA404281877 rs1302090188 |
291 | D>N | No |
ClinGen gnomAD |
|
|
CA305503413 rs964094746 |
291 | D>V | No |
ClinGen TOPMed gnomAD |
|
|
CA404281816 rs1277526868 |
292 | Y>N | No |
ClinGen gnomAD |
|
|
CA9235243 rs772355851 |
293 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA404281752 rs772355851 |
293 | V>D | No |
ClinGen ExAC gnomAD |
|
|
CA404281729 rs1370972330 |
294 | Q>* | No |
ClinGen gnomAD |
|
|
rs903574777 CA305503412 |
295 | R>Q | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 295 | R>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA305503411 rs1044830823 |
296 | V>A | No |
ClinGen gnomAD |
|
|
CA404281664 rs1044830823 |
296 | V>G | No |
ClinGen gnomAD |
|
|
CA404281675 rs1376725783 |
296 | V>I | No |
ClinGen gnomAD |
|
|
rs1405399232 CA404281605 |
298 | R>G | No |
ClinGen gnomAD |
|
|
rs1178603623 CA404281587 |
298 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA305503410 rs1011163730 |
299 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs749792426 CA9235239 |
301 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs892719778 CA305503409 |
301 | S>P | No |
ClinGen TOPMed gnomAD |
|
|
rs892719778 CA404281511 |
301 | S>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1599650567 CA404281485 |
302 | Q>* | No |
ClinGen Ensembl |
|
|
CA305503408 rs947824176 |
302 | Q>R | No |
ClinGen gnomAD |
|
|
rs778453807 CA9235238 |
303 | G>S | No |
ClinGen ExAC |
|
|
CA9235236 rs553871144 |
304 | G>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs145222447 CA9235234 |
306 | G>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA404281366 rs1412851060 |
306 | G>V | No |
ClinGen gnomAD |
|
|
rs150431778 CA305503407 |
308 | Q>R | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA404281309 rs1429360277 |
309 | G>E | No |
ClinGen gnomAD |
|
|
CA9235216 rs779602118 |
311 | K>M | No |
ClinGen ExAC gnomAD |
|
|
CA305503404 rs941296722 |
311 | K>N | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 314 | W>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs757893905 CA9235215 |
315 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs142135169 CA9235214 |
316 | L>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs778570693 CA9235213 |
317 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA9235211 rs753647514 |
318 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA305503403 rs777505492 |
319 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA9235210 rs777505492 |
319 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA9235209 rs752638663 |
320 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404280847 rs1251317624 |
320 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA9235208 rs752638663 |
320 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9235207 rs767616044 |
321 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs1489303167 CA404280734 |
323 | L>P | No |
ClinGen gnomAD |
|
|
CA9235205 rs751780205 |
324 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs868407433 CA305503401 |
325 | R>* | No |
ClinGen TOPMed gnomAD |
|
|
rs975525475 CA305503400 |
325 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1165006833 CA404280620 |
328 | T>A | No |
ClinGen Ensembl |
|
|
CA9235204 rs766719157 |
328 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA404280586 rs1228566869 |
329 | T>A | No |
ClinGen gnomAD |
|
|
CA305503399 rs964440017 |
334 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA9235202 rs773702821 |
334 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 335 | A>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA404280361 rs1298031562 |
335 | A>T | No |
ClinGen gnomAD |
|
|
rs770114701 CA9235201 |
335 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9235198 rs771568804 |
337 | Y>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778480926 CA305503398 |
338 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs778480926 CA9235196 |
338 | R>L | No |
ClinGen ExAC gnomAD |
|
|
CA9235195 rs770576117 |
340 | A>P | No |
ClinGen ExAC gnomAD |
|
|
VAR_052641 CA9235194 rs35087277 |
341 | Q>R | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs754160224 CA9235163 |
345 | F>S | No |
ClinGen ExAC gnomAD |
|
|
CA9235162 rs139805483 |
347 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA404279463 rs1459072065 |
349 | K>Q | No |
ClinGen gnomAD |
|
|
CA404279319 rs1335372478 |
353 | I>V | No |
ClinGen gnomAD |
|
|
rs1477317599 CA404279245 |
354 | D>G | No |
ClinGen TOPMed |
|
|
CA9235158 rs762404457 |
354 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772874371 CA9235157 |
355 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769334009 CA9235156 |
355 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs1202993888 CA404279185 |
356 | V>A | No |
ClinGen gnomAD |
|
|
CA404279188 COSM991538 rs1412069323 |
356 | V>I | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
rs371247417 CA9235154 |
358 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1466031326 CA404279156 |
358 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1233111905 CA404279112 |
359 | N>S | No |
ClinGen gnomAD |
|
|
rs1333176062 CA404279085 |
360 | E>V | No |
ClinGen gnomAD |
|
|
rs147769605 CA9235151 |
363 | D>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA404279002 rs1325916118 |
363 | D>N | No |
ClinGen gnomAD |
|
|
CA9235149 rs745947510 |
364 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs745947510 CA305503391 |
364 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779126069 CA9235148 |
365 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA305503389 rs921955922 |
368 | A>G | No |
ClinGen Ensembl |
|
|
CA404278833 rs1568443730 |
368 | A>S | No |
ClinGen Ensembl |
|
|
rs764423533 CA9235145 |
370 | F>I | No |
ClinGen ExAC gnomAD |
|
|
rs1473120629 CA404278621 |
373 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1371997924 CA404278614 |
374 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA404278612 rs1371997924 |
374 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs140193183 CA9235142 |
376 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9235143 rs140193183 |
376 | V>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA404278545 rs1212719653 |
377 | V>M | No |
ClinGen gnomAD |
|
|
CA404278515 rs1292540273 |
378 | A>T | No |
ClinGen gnomAD |
|
|
rs764856282 CA9235139 |
378 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA305503388 rs143923872 |
380 | H>R | No |
ClinGen ESP |
|
|
CA404278405 rs1268469377 |
381 | G>S | No |
ClinGen gnomAD |
|
|
rs776462226 CA9235137 |
382 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs956549902 CA305503387 |
384 | L>F | No |
ClinGen TOPMed |
|
|
CA9235135 rs576348484 |
384 | L>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 385 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs201131468 CA404278155 |
388 | M>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs201131468 CA9235133 |
388 | M>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA9235132 rs771909644 |
389 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs375677041 CA9235130 |
390 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA404278033 rs375677041 |
390 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9235129 rs771092341 |
391 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778006163 CA9235127 |
392 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs749443581 COSM1206539 CA9235128 |
392 | R>W | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
| TCGA novel | 394 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9235093 rs759410011 |
400 | I>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs570887919 CA9235091 |
401 | T>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA9235092 rs774111738 |
401 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404277244 rs1350893060 |
402 | Q>P | No |
ClinGen TOPMed |
|
|
rs537598004 CA9235089 |
404 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748334056 CA9235088 |
404 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs748334056 CA9235087 |
404 | R>L | No |
ClinGen ExAC gnomAD |
|
|
CA305503379 rs911946533 |
405 | F>C | No |
ClinGen Ensembl |
|
|
CA9235086 rs776938985 |
405 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs1272883422 CA404277090 |
406 | K>R | No |
ClinGen TOPMed |
|
|
CA404276987 rs1425227765 |
409 | Y>* | No |
ClinGen Ensembl |
|
|
CA404276995 rs1484238901 |
409 | Y>C | No |
ClinGen gnomAD |
|
|
CA305503376 rs915058933 |
410 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs747413982 CA9235084 |
414 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA404276747 rs1229947567 |
415 | P>R | No |
ClinGen gnomAD |
|
|
CA404276768 rs1265982756 |
415 | P>T | No |
ClinGen gnomAD |
|
|
CA404276740 rs1241307708 |
416 | S>G | No |
ClinGen gnomAD |
|
|
rs1329642849 CA404276736 |
416 | S>N | No |
ClinGen gnomAD |
|
| TCGA novel | 417 | M>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA404276549 rs1599650096 |
419 | V>A | No |
ClinGen Ensembl |
|
|
rs780357152 CA9235083 |
419 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs758968677 CA9235082 |
421 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA404276421 rs1179694751 |
423 | H>Q | No |
ClinGen TOPMed |
|
|
CA404276439 rs1437812468 |
423 | H>Y | No |
ClinGen TOPMed |
|
|
CA404276197 rs1433533048 |
425 | G>D | No |
ClinGen TOPMed |
|
|
CA404276385 rs1380685914 |
425 | G>S | No |
ClinGen gnomAD |
|
|
rs780645496 CA9235055 |
427 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs1189305022 CA404276128 |
427 | K>R | No |
ClinGen gnomAD |
|
|
rs1204356000 CA404276049 |
432 | V>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA305503362 rs1025351697 |
433 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA9235052 rs751217008 |
433 | G>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 436 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1368752728 CA404275989 |
437 | V>F | No |
ClinGen gnomAD |
|
|
rs1599649942 CA404275981 |
437 | V>G | No |
ClinGen Ensembl |
|
|
rs765172401 CA9235048 |
439 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs761814614 CA9235047 |
439 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA305503361 rs900809210 |
440 | P>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1040048028 CA305503360 |
442 | M>I | No |
ClinGen TOPMed |
|
|
rs753946620 CA9235046 |
442 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs764136745 CA9235045 |
446 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM709897 rs1287519725 CA404274494 |
448 | L>F | lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs1253309734 CA404274471 |
449 | P>L | No |
ClinGen gnomAD |
|
|
CA9235040 rs774945367 |
452 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200181672 CA9235039 |
453 | S>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs768089151 CA9235036 |
454 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs924009039 CA305503358 |
455 | I>T | No |
ClinGen TOPMed |
|
|
rs916447821 CA305503357 |
456 | A>D | No |
ClinGen Ensembl |
|
|
rs375736391 CA9235035 |
458 | G>D | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1352914206 CA404274191 |
459 | L>F | No |
ClinGen gnomAD |
|
|
rs1046408976 CA305503355 |
460 | S>F | No |
ClinGen TOPMed |
|
|
rs758130016 CA9235033 |
463 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750223163 CA9235032 |
463 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA305503354 rs750223163 |
463 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753769393 CA9235008 |
465 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs777595460 CA9235007 |
465 | T>M | No |
ClinGen ExAC gnomAD |
|
|
CA9235005 rs752832175 |
466 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs1286011153 CA404273599 |
467 | I>V | No |
ClinGen gnomAD |
|
|
rs767777027 CA9235004 |
469 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404273518 rs1228744451 |
470 | G>S | No |
ClinGen gnomAD |
|
|
CA9235002 rs139040383 |
471 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA404273442 rs1367082846 |
472 | N>K | No |
ClinGen gnomAD |
|
|
rs763246656 CA9235001 |
474 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA305503195 rs1042257219 |
474 | I>T | No |
ClinGen Ensembl |
|
|
CA9234998 rs765665257 |
475 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs373657447 CA9234999 |
475 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA305503194 rs947596010 |
478 | V>M | No |
ClinGen Ensembl |
|
|
rs991739856 CA305503192 |
479 | G>D | No |
ClinGen gnomAD |
|
|
CA305503193 rs914755287 |
479 | G>S | No |
ClinGen Ensembl |
|
|
rs958980425 CA305503191 |
480 | H>Q | No |
ClinGen gnomAD |
|
|
rs928608976 CA305503190 |
482 | V>M | No |
ClinGen TOPMed |
|
|
rs1450265072 CA404273089 |
486 | M>L | No |
ClinGen gnomAD |
|
|
CA305503189 rs981446666 |
490 | S>N | No |
ClinGen Ensembl |
|
|
CA404272969 rs1292599106 |
491 | P>A | No |
ClinGen gnomAD |
|
|
rs745489435 CA9234994 |
492 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA9234993 rs774024421 |
494 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9234992 rs770712368 |
494 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA305503188 rs770712368 |
494 | R>L | No |
ClinGen ExAC gnomAD |
|
|
CA404272845 rs1274506617 |
497 | A>D | No |
ClinGen gnomAD |
|
|
CA9234990 rs777702304 |
498 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs540075798 CA9234989 |
499 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9234987 rs781403199 |
501 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA404272708 rs1358847011 |
502 | P>A | No |
ClinGen TOPMed |
|
|
CA9234986 rs755136781 |
503 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA9234985 rs751778234 |
505 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs751778234 CA404272640 |
505 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA9234984 rs766521776 |
507 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs1171672336 CA404272571 |
507 | A>V | No |
ClinGen gnomAD |
|
|
rs1568443062 CA404272566 |
508 | A>S | No |
ClinGen Ensembl |
|
|
rs758719242 CA9234983 COSM1680715 |
508 | A>V | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA404272533 rs1200771386 |
509 | A>W | No |
ClinGen gnomAD |
1 associated diseases with Q9Y285
[MIM: 619013]: Rajab interstitial lung disease with brain calcifications 2 (RILDBC2)
An autosomal recessive disorder characterized by interstitial lung disease, growth delay, hypotonia, liver disease, and brain abnormalities including diffuse, symmetrical brain calcifications and periventricular cysts. {ECO:0000269|PubMed:31355908}. Note=The disease may be caused by variants affecting the gene represented in this entry.
Without disease ID
- An autosomal recessive disorder characterized by interstitial lung disease, growth delay, hypotonia, liver disease, and brain abnormalities including diffuse, symmetrical brain calcifications and periventricular cysts. {ECO:0000269|PubMed:31355908}. Note=The disease may be caused by variants affecting the gene represented in this entry.
5 regional properties for Q9Y285
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Phenylalanyl-tRNA synthetase | 210 - 483 | IPR002319 |
| domain | Aminoacyl-tRNA synthetase, class II | 229 - 502 | IPR006195 |
| domain | PheRS DNA binding domain 2 | 134 - 165 | IPR040586 |
| domain | PheRS, DNA binding domain 1 | 3 - 61 | IPR040724 |
| domain | PheRS, DNA binding domain 3 | 75 - 131 | IPR040725 |
Functions
| Description | ||
|---|---|---|
| EC Number | 6.1.1.20 | Ligases forming aminoacyl-tRNA and related compounds |
| Subcellular Localization |
|
|
| PANTHER Family | ||
| PANTHER Subfamily | ||
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
4 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| membrane | A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it. |
| phenylalanine-tRNA ligase complex | An enzyme complex that catalyzes the ligation of phenylalanine to tRNA(Phe), forming L-phenylalanyl-tRNA(Phe). |
5 GO annotations of molecular function
| Name | Definition |
|---|---|
| ATP binding | Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator. |
| magnesium ion binding | Binding to a magnesium (Mg) ion. |
| phenylalanine-tRNA ligase activity | Catalysis of the reaction: ATP + L-phenylalanine + tRNA(Phe) = AMP + diphosphate + L-phenylalanyl-tRNA(Phe). |
| RNA binding | Binding to an RNA molecule or a portion thereof. |
| tRNA binding | Binding to a transfer RNA. |
2 GO annotations of biological process
| Name | Definition |
|---|---|
| phenylalanyl-tRNA aminoacylation | The process of coupling phenylalanine to phenylalanyl-tRNA, catalyzed by phenylalanyl-tRNA synthetase. The phenylalanyl-tRNA synthetase is a class-II synthetase. However, unlike other class II enzymes, The activated amino acid is transferred to the 2'-OH group of a phenylalanine-accepting tRNA. The 2'-O-aminoacyl-tRNA will ultimately migrate to the 3' position via transesterification. |
| protein heterotetramerization | The formation of a protein heterotetramer, a macromolecular structure consisting of four noncovalently associated subunits, of which not all are identical. |
5 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q5ZJQ2 | FARSA | Phenylalanine--tRNA ligase alpha subunit | Gallus gallus (Chicken) | PR |
| P08312 | pheS | Phenylalanine--tRNA ligase alpha subunit | Escherichia coli (strain K12) | PR |
| Q9BRP7 | FDXACB1 | Ferredoxin-fold anticodon-binding domain-containing protein 1 | Homo sapiens (Human) | PR |
| Q505J8 | Farsa | Phenylalanine--tRNA ligase alpha subunit | Rattus norvegicus (Rat) | PR |
| Q1JPX3 | farsa | Phenylalanine--tRNA ligase alpha subunit | Danio rerio (Zebrafish) (Brachydanio rerio) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MADGQVAELL | LRRLEASDGG | LDSAELAAEL | GMEHQAVVGA | VKSLQALGEV | IEAELRSTKH |
| 70 | 80 | 90 | 100 | 110 | 120 |
| WELTAEGEEI | AREGSHEARV | FRSIPPEGLA | QSELMRLPSG | KVGFSKAMSN | KWIRVDKSAA |
| 130 | 140 | 150 | 160 | 170 | 180 |
| DGPRVFRVVD | SMEDEVQRRL | QLVRGGQAEK | LGEKERSELR | KRKLLAEVTL | KTYWVSKGSA |
| 190 | 200 | 210 | 220 | 230 | 240 |
| FSTSISKQET | ELSPEMISSG | SWRDRPFKPY | NFLAHGVLPD | SGHLHPLLKV | RSQFRQIFLE |
| 250 | 260 | 270 | 280 | 290 | 300 |
| MGFTEMPTDN | FIESSFWNFD | ALFQPQQHPA | RDQHDTFFLR | DPAEALQLPM | DYVQRVKRTH |
| 310 | 320 | 330 | 340 | 350 | 360 |
| SQGGYGSQGY | KYNWKLDEAR | KNLLRTHTTS | ASARALYRLA | QKKPFTPVKY | FSIDRVFRNE |
| 370 | 380 | 390 | 400 | 410 | 420 |
| TLDATHLAEF | HQIEGVVADH | GLTLGHLMGV | LREFFTKLGI | TQLRFKPAYN | PYTEPSMEVF |
| 430 | 440 | 450 | 460 | 470 | 480 |
| SYHQGLKKWV | EVGNSGVFRP | EMLLPMGLPE | NVSVIAWGLS | LERPTMIKYG | INNIRELVGH |
| 490 | 500 | ||||
| KVNLQMVYDS | PLCRLDAEPR | PPPTQEAA |