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![]() | Differntial gene expression between RNA A-to-I edited versus non-edited samples |
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![]() | The effects of the RNA editing to the stability of the RNA structures |
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Gene summary for PNPLA6 |
Gene summary |
| Gene information | Gene symbol | PNPLA6 | Gene ID | 10908 |
| Gene name | patatin like phospholipase domain containing 6 | |
| Synonyms | BNHS|LNMS|NTE|NTEMND|OMCS|SPG39|iPLA2delta|sws | |
| Cytomap | 19p13.2 | |
| Type of gene | protein-coding | |
| Description | neuropathy target esterasepatatin-like phospholipase domain-containing protein 6 | |
| Modification date | 20200313 | |
| UniProtAcc | Q8IY17, | |
| Context |
Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Gene | GO ID | GO term | PubMed ID |
Top |
RNA A-to-I events for PNPLA6 |
RNA A-to-I editing events in the ROSMAP, MSBB, and Mayo data sets based on Ensembl gene isoform structure. * This pie chart shows the number of RNA A-to-I editing events in different types of transcripts (# event, percentage). |
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RNA editing frequencies across three data sets. |
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The number of RNA A-to-I editing events in different types of transcripts (# event, percentage). |
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RNA A-to-I editing events in AD. |
| ADediting_793391(7536771, +), ADediting_793392(7536807, +), ADediting_793393(7536882, +), ADediting_793394(7537690, +), ADediting_793395(7537703, +), ADediting_793396(7537706, +), ADediting_793397(7537744, +), ADediting_793398(7537781, +), ADediting_793399(7537902, +), ADediting_793400(7537920, +), ADediting_793401(7538228, +), ADediting_793402(7538244, +), ADediting_793403(7538249, +), ADediting_793404(7538280, +), ADediting_793405(7538298, +), ADediting_793406(7538315, +), ADediting_793407(7538397, +), ADediting_793408(7538418, +), ADediting_793409(7538421, +), ADediting_793410(7538422, +), ADediting_793411(7538445, +), ADediting_793412(7539258, +), ADediting_793413(7539313, +), ADediting_793414(7539358, +), ADediting_793415(7539364, +), ADediting_793416(7539497, +), ADediting_793417(7539626, +), ADediting_793418(7539646, +), ADediting_793419(7539649, +), ADediting_793420(7544332, +), ADediting_793421(7544373, +), ADediting_793422(7544374, +), ADediting_793423(7544386, +), ADediting_793424(7544392, +), ADediting_793425(7545082, +), ADediting_793426(7545107, +), ADediting_793427(7545126, +), ADediting_793428(7545127, +), ADediting_793429(7545139, +), ADediting_793430(7545144, +), ADediting_793431(7545166, +), ADediting_793432(7545172, +), ADediting_793433(7545182, +), ADediting_793434(7545224, +), ADediting_793435(7545236, +), ADediting_793436(7545247, +), ADediting_793437(7545248, +), ADediting_793438(7545249, +), ADediting_793439(7545261, +), ADediting_793440(7545262, +), ADediting_793441(7545266, +), ADediting_793442(7545279, +), ADediting_793443(7545288, +), ADediting_793444(7545638, +), ADediting_793445(7545648, +), ADediting_793446(7545656, +), ADediting_793447(7545657, +), ADediting_793448(7545665, +), ADediting_793449(7545679, +), ADediting_793450(7545684, +), ADediting_793451(7545686, +), ADediting_793452(7545692, +), ADediting_793453(7545711, +), ADediting_793454(7545713, +), ADediting_793455(7545725, +), ADediting_793456(7545726, +), ADediting_793457(7545747, +), ADediting_793458(7545765, +), ADediting_793459(7545769, +), ADediting_793460(7545773, +), ADediting_793461(7545814, +), ADediting_793462(7545818, +), ADediting_793463(7545827, +), ADediting_793464(7545833, +), ADediting_793465(7545837, +), ADediting_793466(7545855, +), ADediting_793467(7545867, +), ADediting_793468(7545875, +), ADediting_793469(7545890, +), ADediting_793470(7546355, +), ADediting_793471(7546357, +), ADediting_793472(7546365, +), ADediting_793473(7546373, +), ADediting_793474(7546374, +), ADediting_793475(7546382, +), ADediting_793476(7546390, +), ADediting_793477(7546419, +), ADediting_793478(7546450, +), ADediting_793479(7546451, +), ADediting_793480(7546487, +), ADediting_793481(7546491, +), ADediting_793482(7546505, +), ADediting_793483(7546513, +), ADediting_793484(7546519, +), ADediting_793485(7546536, +), ADediting_793486(7546683, +), ADediting_793487(7546974, +), ADediting_793488(7547022, +), ADediting_793489(7547050, +), ADediting_793490(7547102, +), ADediting_793491(7547157, +), ADediting_793492(7547166, +), ADediting_793493(7547167, +), ADediting_793494(7547179, +), ADediting_793495(7547195, +), ADediting_793496(7547516, +), ADediting_793497(7547531, +), ADediting_793498(7547603, +), ADediting_793499(7547604, +), ADediting_793500(7547605, +), ADediting_793501(7547738, +), ADediting_793502(7547741, +), ADediting_793503(7547755, +), ADediting_793504(7547771, +), ADediting_793505(7547925, +), ADediting_793506(7547937, +), ADediting_793507(7548072, +), ADediting_793508(7548074, +), ADediting_793509(7548084, +), ADediting_793510(7548090, +), ADediting_793511(7548091, +), ADediting_793512(7548096, +), ADediting_793513(7548126, +), ADediting_793514(7548144, +), ADediting_793515(7548158, +), ADediting_793516(7548168, +), ADediting_793517(7548224, +), ADediting_793518(7548276, +), ADediting_793519(7548326, +), ADediting_793520(7548331, +), ADediting_793521(7548932, +), ADediting_793522(7549009, +), ADediting_793523(7549065, +), ADediting_793524(7549077, +), ADediting_793525(7549344, +), ADediting_793526(7549393, +), ADediting_793527(7549448, +), ADediting_793528(7549460, +), ADediting_793529(7549545, +), ADediting_793530(7549582, +), ADediting_793531(7549592, +), ADediting_793532(7549606, +), ADediting_793533(7549650, +), ADediting_793534(7549749, +), ADediting_793535(7551844, +), ADediting_793536(7551845, +), ADediting_793537(7551867, +), ADediting_793538(7551890, +), ADediting_793539(7551924, +), ADediting_793540(7551986, +), ADediting_793541(7552000, +), ADediting_793542(7552570, +), ADediting_793543(7552590, +), ADediting_793544(7552593, +), ADediting_793545(7552594, +), ADediting_793546(7552595, +), ADediting_793547(7552596, +), ADediting_793548(7552608, +), ADediting_793549(7552634, +), ADediting_793550(7552644, +), ADediting_793551(7552657, +), ADediting_793552(7552661, +), ADediting_793553(7552666, +), ADediting_793554(7552667, +), ADediting_793555(7552675, +), ADediting_793556(7552676, +), ADediting_793557(7552743, +), ADediting_793558(7552744, +), ADediting_793559(7552745, +), ADediting_793560(7552751, +), ADediting_793561(7552761, +), ADediting_793562(7552776, +), ADediting_793563(7552777, +), ADediting_793564(7552779, +), ADediting_793565(7553270, +), ADediting_793566(7553271, +), ADediting_793567(7553275, +), ADediting_793568(7553352, +), ADediting_793569(7553369, +), ADediting_793570(7553377, +), ADediting_793571(7553381, +), ADediting_793572(7553391, +), ADediting_793573(7553417, +), ADediting_793574(7553418, +), ADediting_793575(7553434, +), ADediting_793576(7553437, +), ADediting_1559936(7546806, +), ADediting_1559937(7547676, +), ADediting_1559938(7553404, +), |
Top |
RNA editing positional annotations for PNPLA6 using Annovar |
Protein coding RNA editing(s). |
| ADeditome ID | Position | Variant type | ENST | NTchange | AAchange | SIFT_score | Polyphen2_HVAR_score | PROVEAN_pred |
Gene structure information of RNA editing(s). |
| ADeditome ID | Position | Variant type |
| ADediting_793391 | chr19_7536771_+ | intronic |
| ADediting_793392 | chr19_7536807_+ | intronic |
| ADediting_793393 | chr19_7536882_+ | intronic |
| ADediting_793394 | chr19_7537690_+ | intronic |
| ADediting_793395 | chr19_7537703_+ | intronic |
| ADediting_793396 | chr19_7537706_+ | intronic |
| ADediting_793397 | chr19_7537744_+ | intronic |
| ADediting_793398 | chr19_7537781_+ | intronic |
| ADediting_793399 | chr19_7537902_+ | intronic |
| ADediting_793400 | chr19_7537920_+ | intronic |
| ADediting_793401 | chr19_7538228_+ | intronic |
| ADediting_793402 | chr19_7538244_+ | intronic |
| ADediting_793403 | chr19_7538249_+ | intronic |
| ADediting_793404 | chr19_7538280_+ | intronic |
| ADediting_793405 | chr19_7538298_+ | intronic |
| ADediting_793406 | chr19_7538315_+ | intronic |
| ADediting_793407 | chr19_7538397_+ | intronic |
| ADediting_793408 | chr19_7538418_+ | intronic |
| ADediting_793409 | chr19_7538421_+ | intronic |
| ADediting_793410 | chr19_7538422_+ | intronic |
| ADediting_793411 | chr19_7538445_+ | intronic |
| ADediting_793412 | chr19_7539258_+ | intronic |
| ADediting_793413 | chr19_7539313_+ | intronic |
| ADediting_793414 | chr19_7539358_+ | intronic |
| ADediting_793415 | chr19_7539364_+ | intronic |
| ADediting_793416 | chr19_7539497_+ | intronic |
| ADediting_793417 | chr19_7539626_+ | intronic |
| ADediting_793418 | chr19_7539646_+ | intronic |
| ADediting_793419 | chr19_7539649_+ | intronic |
| ADediting_793420 | chr19_7544332_+ | intronic |
| ADediting_793421 | chr19_7544373_+ | intronic |
| ADediting_793422 | chr19_7544374_+ | intronic |
| ADediting_793423 | chr19_7544386_+ | intronic |
| ADediting_793424 | chr19_7544392_+ | intronic |
| ADediting_793425 | chr19_7545082_+ | intronic |
| ADediting_793426 | chr19_7545107_+ | intronic |
| ADediting_793427 | chr19_7545126_+ | intronic |
| ADediting_793428 | chr19_7545127_+ | intronic |
| ADediting_793429 | chr19_7545139_+ | intronic |
| ADediting_793430 | chr19_7545144_+ | intronic |
| ADediting_793431 | chr19_7545166_+ | intronic |
| ADediting_793432 | chr19_7545172_+ | intronic |
| ADediting_793433 | chr19_7545182_+ | intronic |
| ADediting_793434 | chr19_7545224_+ | intronic |
| ADediting_793435 | chr19_7545236_+ | intronic |
| ADediting_793436 | chr19_7545247_+ | intronic |
| ADediting_793437 | chr19_7545248_+ | intronic |
| ADediting_793438 | chr19_7545249_+ | intronic |
| ADediting_793439 | chr19_7545261_+ | intronic |
| ADediting_793440 | chr19_7545262_+ | intronic |
| ADediting_793441 | chr19_7545266_+ | intronic |
| ADediting_793442 | chr19_7545279_+ | intronic |
| ADediting_793443 | chr19_7545288_+ | intronic |
| ADediting_793444 | chr19_7545638_+ | intronic |
| ADediting_793445 | chr19_7545648_+ | intronic |
| ADediting_793446 | chr19_7545656_+ | intronic |
| ADediting_793447 | chr19_7545657_+ | intronic |
| ADediting_793448 | chr19_7545665_+ | intronic |
| ADediting_793449 | chr19_7545679_+ | intronic |
| ADediting_793450 | chr19_7545684_+ | intronic |
| ADediting_793451 | chr19_7545686_+ | intronic |
| ADediting_793452 | chr19_7545692_+ | intronic |
| ADediting_793453 | chr19_7545711_+ | intronic |
| ADediting_793454 | chr19_7545713_+ | intronic |
| ADediting_793455 | chr19_7545725_+ | intronic |
| ADediting_793456 | chr19_7545726_+ | intronic |
| ADediting_793457 | chr19_7545747_+ | intronic |
| ADediting_793458 | chr19_7545765_+ | intronic |
| ADediting_793459 | chr19_7545769_+ | intronic |
| ADediting_793460 | chr19_7545773_+ | intronic |
| ADediting_793461 | chr19_7545814_+ | intronic |
| ADediting_793462 | chr19_7545818_+ | intronic |
| ADediting_793463 | chr19_7545827_+ | intronic |
| ADediting_793464 | chr19_7545833_+ | intronic |
| ADediting_793465 | chr19_7545837_+ | intronic |
| ADediting_793466 | chr19_7545855_+ | intronic |
| ADediting_793467 | chr19_7545867_+ | intronic |
| ADediting_793468 | chr19_7545875_+ | intronic |
| ADediting_793469 | chr19_7545890_+ | intronic |
| ADediting_793470 | chr19_7546355_+ | intronic |
| ADediting_793471 | chr19_7546357_+ | intronic |
| ADediting_793472 | chr19_7546365_+ | intronic |
| ADediting_793473 | chr19_7546373_+ | intronic |
| ADediting_793474 | chr19_7546374_+ | intronic |
| ADediting_793475 | chr19_7546382_+ | intronic |
| ADediting_793476 | chr19_7546390_+ | intronic |
| ADediting_793477 | chr19_7546419_+ | intronic |
| ADediting_793478 | chr19_7546450_+ | intronic |
| ADediting_793479 | chr19_7546451_+ | intronic |
| ADediting_793480 | chr19_7546487_+ | intronic |
| ADediting_793481 | chr19_7546491_+ | intronic |
| ADediting_793482 | chr19_7546505_+ | intronic |
| ADediting_793483 | chr19_7546513_+ | intronic |
| ADediting_793484 | chr19_7546519_+ | intronic |
| ADediting_793485 | chr19_7546536_+ | intronic |
| ADediting_793486 | chr19_7546683_+ | intronic |
| ADediting_793487 | chr19_7546974_+ | intronic |
| ADediting_793488 | chr19_7547022_+ | intronic |
| ADediting_793489 | chr19_7547050_+ | intronic |
| ADediting_793490 | chr19_7547102_+ | intronic |
| ADediting_793491 | chr19_7547157_+ | intronic |
| ADediting_793492 | chr19_7547166_+ | intronic |
| ADediting_793493 | chr19_7547167_+ | intronic |
| ADediting_793494 | chr19_7547179_+ | intronic |
| ADediting_793495 | chr19_7547195_+ | intronic |
| ADediting_793496 | chr19_7547516_+ | intronic |
| ADediting_793497 | chr19_7547531_+ | intronic |
| ADediting_793498 | chr19_7547603_+ | intronic |
| ADediting_793499 | chr19_7547604_+ | intronic |
| ADediting_793500 | chr19_7547605_+ | intronic |
| ADediting_793501 | chr19_7547738_+ | intronic |
| ADediting_793502 | chr19_7547741_+ | intronic |
| ADediting_793503 | chr19_7547755_+ | intronic |
| ADediting_793504 | chr19_7547771_+ | intronic |
| ADediting_793505 | chr19_7547925_+ | intronic |
| ADediting_793506 | chr19_7547937_+ | intronic |
| ADediting_793507 | chr19_7548072_+ | intronic |
| ADediting_793508 | chr19_7548074_+ | intronic |
| ADediting_793509 | chr19_7548084_+ | intronic |
| ADediting_793510 | chr19_7548090_+ | intronic |
| ADediting_793511 | chr19_7548091_+ | intronic |
| ADediting_793512 | chr19_7548096_+ | intronic |
| ADediting_793513 | chr19_7548126_+ | intronic |
| ADediting_793514 | chr19_7548144_+ | intronic |
| ADediting_793515 | chr19_7548158_+ | intronic |
| ADediting_793516 | chr19_7548168_+ | intronic |
| ADediting_793517 | chr19_7548224_+ | intronic |
| ADediting_793518 | chr19_7548276_+ | intronic |
| ADediting_793519 | chr19_7548326_+ | intronic |
| ADediting_793520 | chr19_7548331_+ | intronic |
| ADediting_793521 | chr19_7548932_+ | intronic |
| ADediting_793522 | chr19_7549009_+ | intronic |
| ADediting_793523 | chr19_7549065_+ | intronic |
| ADediting_793524 | chr19_7549077_+ | intronic |
| ADediting_793525 | chr19_7549344_+ | intronic |
| ADediting_793526 | chr19_7549393_+ | intronic |
| ADediting_793527 | chr19_7549448_+ | intronic |
| ADediting_793528 | chr19_7549460_+ | intronic |
| ADediting_793529 | chr19_7549545_+ | intronic |
| ADediting_793530 | chr19_7549582_+ | intronic |
| ADediting_793531 | chr19_7549592_+ | intronic |
| ADediting_793532 | chr19_7549606_+ | intronic |
| ADediting_793533 | chr19_7549650_+ | intronic |
| ADediting_793534 | chr19_7549749_+ | intronic |
| ADediting_793535 | chr19_7551844_+ | intronic |
| ADediting_793536 | chr19_7551845_+ | intronic |
| ADediting_793537 | chr19_7551867_+ | intronic |
| ADediting_793538 | chr19_7551890_+ | intronic |
| ADediting_793539 | chr19_7551924_+ | intronic |
| ADediting_793540 | chr19_7551986_+ | intronic |
| ADediting_793541 | chr19_7552000_+ | intronic |
| ADediting_793542 | chr19_7552570_+ | intronic |
| ADediting_793543 | chr19_7552590_+ | intronic |
| ADediting_793544 | chr19_7552593_+ | intronic |
| ADediting_793545 | chr19_7552594_+ | intronic |
| ADediting_793546 | chr19_7552595_+ | intronic |
| ADediting_793547 | chr19_7552596_+ | intronic |
| ADediting_793548 | chr19_7552608_+ | intronic |
| ADediting_793549 | chr19_7552634_+ | intronic |
| ADediting_793550 | chr19_7552644_+ | intronic |
| ADediting_793551 | chr19_7552657_+ | intronic |
| ADediting_793552 | chr19_7552661_+ | intronic |
| ADediting_793553 | chr19_7552666_+ | intronic |
| ADediting_793554 | chr19_7552667_+ | intronic |
| ADediting_793555 | chr19_7552675_+ | intronic |
| ADediting_793556 | chr19_7552676_+ | intronic |
| ADediting_793557 | chr19_7552743_+ | intronic |
| ADediting_793558 | chr19_7552744_+ | intronic |
| ADediting_793559 | chr19_7552745_+ | intronic |
| ADediting_793560 | chr19_7552751_+ | intronic |
| ADediting_793561 | chr19_7552761_+ | intronic |
| ADediting_793562 | chr19_7552776_+ | intronic |
| ADediting_793563 | chr19_7552777_+ | intronic |
| ADediting_793564 | chr19_7552779_+ | intronic |
| ADediting_793565 | chr19_7553270_+ | intronic |
| ADediting_793566 | chr19_7553271_+ | intronic |
| ADediting_793567 | chr19_7553275_+ | intronic |
| ADediting_793568 | chr19_7553352_+ | intronic |
| ADediting_793569 | chr19_7553369_+ | intronic |
| ADediting_793570 | chr19_7553377_+ | intronic |
| ADediting_793571 | chr19_7553381_+ | intronic |
| ADediting_793572 | chr19_7553391_+ | intronic |
| ADediting_793573 | chr19_7553417_+ | intronic |
| ADediting_793574 | chr19_7553418_+ | intronic |
| ADediting_793575 | chr19_7553434_+ | intronic |
| ADediting_793576 | chr19_7553437_+ | intronic |
| ADediting_1559936 | chr19_7546806_+ | intronic |
| ADediting_1559937 | chr19_7547676_+ | intronic |
| ADediting_1559938 | chr19_7553404_+ | intronic |
Repat-regional RNA editing(s). |
| ADeditome ID | Position | Repeat family | Repeat sub family | Repeat name |
| ADediting_793391 | chr19_7536771_+ | SINE | Alu | Name=AluSx |
| ADediting_793392 | chr19_7536807_+ | SINE | Alu | Name=AluSx |
| ADediting_793393 | chr19_7536882_+ | SINE | Alu | Name=AluSx |
| ADediting_793394 | chr19_7537690_+ | SINE | Alu | Name=AluSc |
| ADediting_793395 | chr19_7537703_+ | SINE | Alu | Name=AluSc |
| ADediting_793396 | chr19_7537706_+ | SINE | Alu | Name=AluSc |
| ADediting_793397 | chr19_7537744_+ | SINE | Alu | Name=AluSc |
| ADediting_793398 | chr19_7537781_+ | SINE | Alu | Name=AluSc |
| ADediting_793399 | chr19_7537902_+ | SINE | Alu | Name=AluSc |
| ADediting_793400 | chr19_7537920_+ | SINE | Alu | Name=AluSc |
| ADediting_793401 | chr19_7538228_+ | SINE | Alu | Name=AluJr |
| ADediting_793402 | chr19_7538244_+ | SINE | Alu | Name=AluJr |
| ADediting_793403 | chr19_7538249_+ | SINE | Alu | Name=AluJr |
| ADediting_793404 | chr19_7538280_+ | SINE | Alu | Name=AluJr |
| ADediting_793405 | chr19_7538298_+ | SINE | Alu | Name=AluJr |
| ADediting_793406 | chr19_7538315_+ | SINE | Alu | Name=AluJr |
| ADediting_793407 | chr19_7538397_+ | SINE | Alu | Name=AluJr |
| ADediting_793408 | chr19_7538418_+ | SINE | Alu | Name=AluJr |
| ADediting_793409 | chr19_7538421_+ | SINE | Alu | Name=AluJr |
| ADediting_793410 | chr19_7538422_+ | SINE | Alu | Name=AluJr |
| ADediting_793411 | chr19_7538445_+ | SINE | Alu | Name=AluJr |
| ADediting_793412 | chr19_7539258_+ | SINE | Alu | Name=AluSx3 |
| ADediting_793413 | chr19_7539313_+ | SINE | Alu | Name=AluSx3 |
| ADediting_793414 | chr19_7539358_+ | SINE | Alu | Name=AluSx3 |
| ADediting_793415 | chr19_7539364_+ | SINE | Alu | Name=AluSx3 |
| ADediting_793416 | chr19_7539497_+ | SINE | Alu | Name=AluSp |
| ADediting_793417 | chr19_7539626_+ | SINE | Alu | Name=AluSp |
| ADediting_793418 | chr19_7539646_+ | SINE | Alu | Name=AluSp |
| ADediting_793419 | chr19_7539649_+ | SINE | Alu | Name=AluSp |
| ADediting_793420 | chr19_7544332_+ | SINE | Alu | Name=AluSx |
| ADediting_793421 | chr19_7544373_+ | SINE | Alu | Name=AluSx |
| ADediting_793422 | chr19_7544374_+ | SINE | Alu | Name=AluSx |
| ADediting_793423 | chr19_7544386_+ | SINE | Alu | Name=AluSx |
| ADediting_793424 | chr19_7544392_+ | SINE | Alu | Name=AluSx |
| ADediting_793425 | chr19_7545082_+ | SINE | Alu | Name=AluSz |
| ADediting_793426 | chr19_7545107_+ | SINE | Alu | Name=AluSz |
| ADediting_793427 | chr19_7545126_+ | SINE | Alu | Name=AluSz |
| ADediting_793428 | chr19_7545127_+ | SINE | Alu | Name=AluSz |
| ADediting_793429 | chr19_7545139_+ | SINE | Alu | Name=AluSz |
| ADediting_793430 | chr19_7545144_+ | SINE | Alu | Name=AluSz |
| ADediting_793431 | chr19_7545166_+ | SINE | Alu | Name=AluSz |
| ADediting_793432 | chr19_7545172_+ | SINE | Alu | Name=AluSz |
| ADediting_793433 | chr19_7545182_+ | SINE | Alu | Name=AluSz |
| ADediting_793434 | chr19_7545224_+ | SINE | Alu | Name=AluSz |
| ADediting_793435 | chr19_7545236_+ | SINE | Alu | Name=AluSz |
| ADediting_793436 | chr19_7545247_+ | SINE | Alu | Name=AluSz |
| ADediting_793437 | chr19_7545248_+ | SINE | Alu | Name=AluSz |
| ADediting_793438 | chr19_7545249_+ | SINE | Alu | Name=AluSz |
| ADediting_793439 | chr19_7545261_+ | SINE | Alu | Name=AluSz |
| ADediting_793440 | chr19_7545262_+ | SINE | Alu | Name=AluSz |
| ADediting_793441 | chr19_7545266_+ | SINE | Alu | Name=AluSz |
| ADediting_793442 | chr19_7545279_+ | SINE | Alu | Name=AluSz |
| ADediting_793443 | chr19_7545288_+ | SINE | Alu | Name=AluSz |
| ADediting_793444 | chr19_7545638_+ | SINE | Alu | Name=AluSx1 |
| ADediting_793445 | chr19_7545648_+ | SINE | Alu | Name=AluSx1 |
| ADediting_793446 | chr19_7545656_+ | SINE | Alu | Name=AluSx1 |
| ADediting_793447 | chr19_7545657_+ | SINE | Alu | Name=AluSx1 |
| ADediting_793448 | chr19_7545665_+ | SINE | Alu | Name=AluSx1 |
| ADediting_793449 | chr19_7545679_+ | SINE | Alu | Name=AluSx1 |
| ADediting_793450 | chr19_7545684_+ | SINE | Alu | Name=AluSx1 |
| ADediting_793451 | chr19_7545686_+ | SINE | Alu | Name=AluSx1 |
| ADediting_793452 | chr19_7545692_+ | SINE | Alu | Name=AluSx1 |
| ADediting_793453 | chr19_7545711_+ | SINE | Alu | Name=AluSx1 |
| ADediting_793454 | chr19_7545713_+ | SINE | Alu | Name=AluSx1 |
| ADediting_793455 | chr19_7545725_+ | SINE | Alu | Name=AluSx1 |
| ADediting_793456 | chr19_7545726_+ | SINE | Alu | Name=AluSx1 |
| ADediting_793457 | chr19_7545747_+ | SINE | Alu | Name=AluSx1 |
| ADediting_793458 | chr19_7545765_+ | SINE | Alu | Name=AluSx1 |
| ADediting_793459 | chr19_7545769_+ | SINE | Alu | Name=AluSx1 |
| ADediting_793460 | chr19_7545773_+ | SINE | Alu | Name=AluSx1 |
| ADediting_793461 | chr19_7545814_+ | SINE | Alu | Name=AluSx1 |
| ADediting_793462 | chr19_7545818_+ | SINE | Alu | Name=AluSx1 |
| ADediting_793463 | chr19_7545827_+ | SINE | Alu | Name=AluSx1 |
| ADediting_793464 | chr19_7545833_+ | SINE | Alu | Name=AluSx1 |
| ADediting_793465 | chr19_7545837_+ | SINE | Alu | Name=AluSx1 |
| ADediting_793466 | chr19_7545855_+ | SINE | Alu | Name=AluSx1 |
| ADediting_793467 | chr19_7545867_+ | SINE | Alu | Name=AluSx1 |
| ADediting_793468 | chr19_7545875_+ | SINE | Alu | Name=AluSx1 |
| ADediting_793469 | chr19_7545890_+ | SINE | Alu | Name=AluSx1 |
| ADediting_793470 | chr19_7546355_+ | SINE | Alu | Name=AluJb |
| ADediting_793471 | chr19_7546357_+ | SINE | Alu | Name=AluJb |
| ADediting_793472 | chr19_7546365_+ | SINE | Alu | Name=AluJb |
| ADediting_793473 | chr19_7546373_+ | SINE | Alu | Name=AluJb |
| ADediting_793474 | chr19_7546374_+ | SINE | Alu | Name=AluJb |
| ADediting_793475 | chr19_7546382_+ | SINE | Alu | Name=AluJb |
| ADediting_793476 | chr19_7546390_+ | SINE | Alu | Name=AluJb |
| ADediting_793477 | chr19_7546419_+ | SINE | Alu | Name=AluJb |
| ADediting_793478 | chr19_7546450_+ | SINE | Alu | Name=AluJb |
| ADediting_793479 | chr19_7546451_+ | SINE | Alu | Name=AluJb |
| ADediting_793480 | chr19_7546487_+ | SINE | Alu | Name=AluJb |
| ADediting_793481 | chr19_7546491_+ | SINE | Alu | Name=AluJb |
| ADediting_793482 | chr19_7546505_+ | SINE | Alu | Name=AluJb |
| ADediting_793483 | chr19_7546513_+ | SINE | Alu | Name=AluJb |
| ADediting_793484 | chr19_7546519_+ | SINE | Alu | Name=AluJb |
| ADediting_793485 | chr19_7546536_+ | SINE | Alu | Name=AluJb |
| ADediting_793486 | chr19_7546683_+ | SINE | Alu | Name=AluSx |
| ADediting_793487 | chr19_7546974_+ | SINE | Alu | Name=AluSz |
| ADediting_793488 | chr19_7547022_+ | SINE | Alu | Name=AluSz |
| ADediting_793489 | chr19_7547050_+ | SINE | Alu | Name=AluSz |
| ADediting_793490 | chr19_7547102_+ | SINE | Alu | Name=AluSz |
| ADediting_793491 | chr19_7547157_+ | SINE | Alu | Name=AluSz |
| ADediting_793492 | chr19_7547166_+ | SINE | Alu | Name=AluSz |
| ADediting_793493 | chr19_7547167_+ | SINE | Alu | Name=AluSz |
| ADediting_793494 | chr19_7547179_+ | SINE | Alu | Name=AluSz |
| ADediting_793495 | chr19_7547195_+ | SINE | Alu | Name=AluSz |
| ADediting_793496 | chr19_7547516_+ | SINE | Alu | Name=FLAM_C |
| ADediting_793497 | chr19_7547531_+ | SINE | Alu | Name=FLAM_C |
| ADediting_793498 | chr19_7547603_+ | SINE | Alu | Name=FLAM_C |
| ADediting_793499 | chr19_7547604_+ | SINE | Alu | Name=FLAM_C |
| ADediting_793500 | chr19_7547605_+ | SINE | Alu | Name=FLAM_C |
| ADediting_793501 | chr19_7547738_+ | SINE | Alu | Name=AluJr4 |
| ADediting_793502 | chr19_7547741_+ | SINE | Alu | Name=AluJr4 |
| ADediting_793503 | chr19_7547755_+ | SINE | Alu | Name=AluJr4 |
| ADediting_793504 | chr19_7547771_+ | SINE | Alu | Name=AluJr4 |
| ADediting_793505 | chr19_7547925_+ | SINE | Alu | Name=AluJr4 |
| ADediting_793506 | chr19_7547937_+ | SINE | Alu | Name=AluJr4 |
| ADediting_793507 | chr19_7548072_+ | SINE | Alu | Name=AluSx1 |
| ADediting_793508 | chr19_7548074_+ | SINE | Alu | Name=AluSx1 |
| ADediting_793509 | chr19_7548084_+ | SINE | Alu | Name=AluSx1 |
| ADediting_793510 | chr19_7548090_+ | SINE | Alu | Name=AluSx1 |
| ADediting_793511 | chr19_7548091_+ | SINE | Alu | Name=AluSx1 |
| ADediting_793512 | chr19_7548096_+ | SINE | Alu | Name=AluSx1 |
| ADediting_793513 | chr19_7548126_+ | SINE | Alu | Name=AluSx1 |
| ADediting_793514 | chr19_7548144_+ | SINE | Alu | Name=AluSx1 |
| ADediting_793515 | chr19_7548158_+ | SINE | Alu | Name=AluSx1 |
| ADediting_793516 | chr19_7548168_+ | SINE | Alu | Name=AluSx1 |
| ADediting_793517 | chr19_7548224_+ | SINE | Alu | Name=AluSx1 |
| ADediting_793518 | chr19_7548276_+ | SINE | Alu | Name=AluSx1 |
| ADediting_793519 | chr19_7548326_+ | SINE | Alu | Name=AluSx1 |
| ADediting_793520 | chr19_7548331_+ | SINE | Alu | Name=AluSx1 |
| ADediting_793521 | chr19_7548932_+ | SINE | Alu | Name=AluY |
| ADediting_793522 | chr19_7549009_+ | SINE | Alu | Name=AluY |
| ADediting_793523 | chr19_7549065_+ | SINE | Alu | Name=AluY |
| ADediting_793524 | chr19_7549077_+ | SINE | Alu | Name=AluY |
| ADediting_793525 | chr19_7549344_+ | SINE | Alu | Name=AluY |
| ADediting_793526 | chr19_7549393_+ | SINE | Alu | Name=AluY |
| ADediting_793527 | chr19_7549448_+ | SINE | Alu | Name=AluY |
| ADediting_793528 | chr19_7549460_+ | SINE | Alu | Name=AluY |
| ADediting_793529 | chr19_7549545_+ | SINE | Alu | Name=AluSz6 |
| ADediting_793530 | chr19_7549582_+ | SINE | Alu | Name=AluSz6 |
| ADediting_793531 | chr19_7549592_+ | SINE | Alu | Name=AluSz6 |
| ADediting_793532 | chr19_7549606_+ | SINE | Alu | Name=AluSz6 |
| ADediting_793533 | chr19_7549650_+ | SINE | Alu | Name=AluSz6 |
| ADediting_793534 | chr19_7549749_+ | SINE | Alu | Name=AluSz6 |
| ADediting_793535 | chr19_7551844_+ | SINE | Alu | Name=AluJb |
| ADediting_793536 | chr19_7551845_+ | SINE | Alu | Name=AluJb |
| ADediting_793537 | chr19_7551867_+ | SINE | Alu | Name=AluJb |
| ADediting_793538 | chr19_7551890_+ | SINE | Alu | Name=AluJb |
| ADediting_793539 | chr19_7551924_+ | SINE | Alu | Name=AluJb |
| ADediting_793540 | chr19_7551986_+ | SINE | Alu | Name=AluJb |
| ADediting_793541 | chr19_7552000_+ | SINE | Alu | Name=AluJb |
| ADediting_793542 | chr19_7552570_+ | SINE | Alu | Name=AluSq2 |
| ADediting_793543 | chr19_7552590_+ | SINE | Alu | Name=AluSq2 |
| ADediting_793544 | chr19_7552593_+ | SINE | Alu | Name=AluSq2 |
| ADediting_793545 | chr19_7552594_+ | SINE | Alu | Name=AluSq2 |
| ADediting_793546 | chr19_7552595_+ | SINE | Alu | Name=AluSq2 |
| ADediting_793547 | chr19_7552596_+ | SINE | Alu | Name=AluSq2 |
| ADediting_793548 | chr19_7552608_+ | SINE | Alu | Name=AluSq2 |
| ADediting_793549 | chr19_7552634_+ | SINE | Alu | Name=AluSq2 |
| ADediting_793550 | chr19_7552644_+ | SINE | Alu | Name=AluSq2 |
| ADediting_793551 | chr19_7552657_+ | SINE | Alu | Name=AluSq2 |
| ADediting_793552 | chr19_7552661_+ | SINE | Alu | Name=AluSq2 |
| ADediting_793553 | chr19_7552666_+ | SINE | Alu | Name=AluSq2 |
| ADediting_793554 | chr19_7552667_+ | SINE | Alu | Name=AluSq2 |
| ADediting_793555 | chr19_7552675_+ | SINE | Alu | Name=AluSq2 |
| ADediting_793556 | chr19_7552676_+ | SINE | Alu | Name=AluSq2 |
| ADediting_793557 | chr19_7552743_+ | SINE | Alu | Name=AluSq2 |
| ADediting_793558 | chr19_7552744_+ | SINE | Alu | Name=AluSq2 |
| ADediting_793559 | chr19_7552745_+ | SINE | Alu | Name=AluSq2 |
| ADediting_793560 | chr19_7552751_+ | SINE | Alu | Name=AluSq2 |
| ADediting_793561 | chr19_7552761_+ | SINE | Alu | Name=AluSq2 |
| ADediting_793562 | chr19_7552776_+ | SINE | Alu | Name=AluSq2 |
| ADediting_793563 | chr19_7552777_+ | SINE | Alu | Name=AluSq2 |
| ADediting_793564 | chr19_7552779_+ | SINE | Alu | Name=AluSq2 |
| ADediting_793565 | chr19_7553270_+ | SINE | Alu | Name=AluSx3 |
| ADediting_793566 | chr19_7553271_+ | SINE | Alu | Name=AluSx3 |
| ADediting_793567 | chr19_7553275_+ | SINE | Alu | Name=AluSx3 |
| ADediting_793568 | chr19_7553352_+ | SINE | Alu | Name=AluSx3 |
| ADediting_793569 | chr19_7553369_+ | SINE | Alu | Name=AluSx3 |
| ADediting_793570 | chr19_7553377_+ | SINE | Alu | Name=AluSx3 |
| ADediting_793571 | chr19_7553381_+ | SINE | Alu | Name=AluSx3 |
| ADediting_793572 | chr19_7553391_+ | SINE | Alu | Name=AluSx3 |
| ADediting_793573 | chr19_7553417_+ | SINE | Alu | Name=AluSx3 |
| ADediting_793574 | chr19_7553418_+ | SINE | Alu | Name=AluSx3 |
| ADediting_793575 | chr19_7553434_+ | SINE | Alu | Name=AluSx3 |
| ADediting_793576 | chr19_7553437_+ | SINE | Alu | Name=AluSx3 |
| ADediting_1559936 | chr19_7546806_+ | SINE | Alu | Name=FLAM_C |
| ADediting_1559937 | chr19_7547676_+ | SINE | Alu | Name=AluJr4 |
| ADediting_1559938 | chr19_7553404_+ | SINE | Alu | Name=AluSx3 |
Top |
RNA A-to-I editing events in the alternative splicing sites for PNPLA6 |
RNA A-to-I editing(s) in the alternative splicing sites. |
| AStype | ADeditomID | Editing position | AS position | AS direction | Exonic location | Wildtype sequence | Wildtype splicing strength | RNA edited sequence | RNA edited splicing strength |
Differential pencent of spliced in (PSI) between RNA A-to-I edited and non-edited samples |
Top |
Differntial gene expression between RNA A-to-I edited versus non-edited samples for PNPLA6 |
Distribution of the averaged gene expression in AD and control with or without RNA A-to-I editing event.* The grey color means N/A. |
Distribution of the averaged gene isoform expression in AD and control with or without RNA A-to-I editing event. |
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- Differentially expressed gene between RNA A-to-I edited samples versus non-edited samples.* Click on the image to enlarge it in a new window. |
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- Differentially expressed transcript between RNA A-to-I edited samples versus non-edited samples.* Click on the image to enlarge it in a new window. |
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| ADeditome ID | Chr | Positoing | Skipped exon | ENSG | ENSTs |
Top |
Protein coding region RNA A-to-I editings for PNPLA6 |
- Lollipop plot for RNA A-to-I editings across protein structure. * Click on the image to enlarge it in a new window. |
Top |
The effects of the RNA editing to the miRNA binding sites for PNPLA6 |
RNA A-to-I editings in the ROSMAP, MSBB, and Mayo data sets based on Ensembl gene isoform structure. |
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RNA A-to-I editing in the 3'-UTR regions of mRNA gained miRNA binding sites. |
| ADeditom_ID | Position | ENSG | ENST | Transcript name | miRNA ID | Chromosome | Targt | Targetscan end | Targetscan score | Miranda start | Miranda end | Miranda score | Miranda energy |
RNA A-to-I editing in the 3'-UTR regions of mRNA lost miRNA binding sites. |
| ADeditom_ID | Position | ENSG | ENST | Transcript name | miRNA ID | Chromosome | Targt | Targetscan end | Targetscan score | Miranda start | Miranda end | Miranda score | Miranda energy |
RNA A-to-I editing in lncRNA gained miRNA binding sites. |
| ADeditom_ID | Position | ENSG | ENST | Transcript name | miRNA ID | Chromosome | Targt | Targetscan end | Targetscan score | Miranda start | Miranda end | Miranda score | Miranda energy |
| ADediting_793534 | chr19_7549749_+ | ENSG00000032444.16 | ENST00000594864.1 | PNPLA6-209 | hsa-miR-3189-3p | chr19 | 7549744 | 7549750 | 7mer-m8 | 7549728 | 7549751 | 145 | -21.43 |
RNA A-to-I editing in lncRNA lost miRNA binding sites. |
| ADeditom_ID | Position | ENSG | ENST | Transcript name | miRNA ID | Chromosome | Targt | Targetscan end | Targetscan score | Miranda start | Miranda end | Miranda score | Miranda energy |
RNA A-to-I editing in miRNAs gained binding to lncRNA. |
| ADeditom_ID | Position | ENSG | ENST | Transcript name | miRNA ID | Chromosome | Targt | Targetscan end | Targetscan score | Miranda start | Miranda end | Miranda score | Miranda energy |
RNA A-to-I editing in miRNAs lost binding to lncRNA. |
| ADeditom_ID | Position | ENSG | ENST | Transcript name | miRNA ID | Chromosome | Targt | Targetscan end | Targetscan score | Miranda start | Miranda end | Miranda score | Miranda energy |
RNA A-to-I editing in miRNAs gained binding to the 3'-UTR region of mRNA. |
| ADeditom_ID | Position | ENSG | ENST | Transcript name | miRNA ID | Chromosome | Targt | Targetscan end | Targetscan score | Miranda start | Miranda end | Miranda score | Miranda energy |
RNA A-to-I editing in miRNAs lost binding to the 3'-UTR mRNA. |
| ADeditom_ID | Position | ENSG | ENST | Transcript name | miRNA ID | Chromosome | Targt | Targetscan end | Targetscan score | Miranda start | Miranda end | Miranda score | Miranda energy |
Differentially expressed gene-miRNA network |
Top |
The effects of the RNA editing to the stability of the RNA structures for PNPLA6 |
- RNA A-to-I editing in mRNA.* Click on the image to enlarge it in a new window. |
| ENST | ENST type | RNA structure without RNA A-to-I editing. | RNA structure with RNA A-to-I editing. |
| ENST00000594864.1 | lncRNA | ![]() | ![]() |
RNA A-to-I editing in miRNA. |
| ADeditom_ID | ENST | mir_ID | Editing_Information | Editing_Position | MFE_withoneAI | MFE_withoutAI | MFE_withmultipleAI |
RNA A-to-I editing in mRNA. |
| ADeditom_ID | ENST | Editing_Information | Editing_Position | MFE_withoneAI | MFE_withoutAI | MFE_withmultipleAI |
RNA A-to-I editing in lncRNA. |
| ADeditom_ID | ENST | Editing_Information | Editing_Position | MFE_withoneAI | MFE_withoutAI | MFE_withmultipleAI |
| ADediting_793534 | ENST00000594864.1 | chr19_7549749_+ | 49 | -249.70 | -245.10 | -249.70 |
Top |
Relation with ADAR for PNPLA6 |
Correlation between ADAR gene expression and RNA editing frequency |
| Tissue | ADeditomID | position | ADAR1 (p-val) | ADAR1 (coeff.) | ADAR2 (p-val) | ADAR2 (coeff.) | ADAR3 (p-val) | ADAR3 (coeff.) |
| DLPFC | ADediting_793394 | chr19_7537690_+ | 0.750262079835852 | 0.0181497047522198 | 0.131599255920151 | -0.0858273481451101 | 9.60046591944899e-12 | 0.374275290680997 |
| CER | ADediting_793423 | chr19_7544386_+ | 0.772195422042675 | -0.0238339579202021 | 0.213997747689413 | 0.102050328724131 | 0.000119854173328889 | 0.308926162108815 |
| DLPFC | ADediting_793424 | chr19_7544392_+ | 0.736126665404321 | -0.0192154364579379 | 0.117484658122984 | -0.089092858472679 | 2.15666333983721e-10 | 0.350549633233369 |
| DLPFC | ADediting_793431 | chr19_7545166_+ | 0.68104485460742 | 0.0234368475054448 | 0.498421893416315 | -0.0385911628683335 | 2.32561997087633e-09 | 0.330985527060881 |
| DLPFC | ADediting_793455 | chr19_7545725_+ | 0.650928120692321 | -0.0257986936114858 | 0.0348483355741599 | -0.119898262104564 | 5.77375669945005e-08 | 0.302145889854552 |
| DLPFC | ADediting_793456 | chr19_7545726_+ | 0.447141669367532 | -0.0433305917124076 | 0.00837272390498463 | -0.149513449993999 | 2.44442962154063e-09 | 0.330560610344857 |
| DLPFC | ADediting_793491 | chr19_7547157_+ | 0.00631214687496661 | 0.15480581264714 | 0.110408574445613 | 0.0908465457291341 | 6.23411486839266e-08 | 0.301417860357476 |
| DLPFC | ADediting_793526 | chr19_7549393_+ | 0.142454305885357 | 0.0834954453430198 | 0.986637487934508 | 0.000955092436305716 | 4.08684012076991e-12 | 0.380460772488854 |
| DLPFC | ADediting_793540 | chr19_7551986_+ | 0.0138445038162849 | 0.139669285595128 | 0.271452635161268 | 0.062651813281944 | 4.29258503671918e-09 | 0.325712663097563 |
| CER | ADediting_793546 | chr19_7552595_+ | 0.153334169640124 | 0.117161904259159 | 0.000100784805284806 | 0.312150922660731 | 0.114652327614461 | 0.129352664168584 |
| CER | ADediting_793547 | chr19_7552596_+ | 0.120850249306896 | 0.127205191043222 | 1.30722240547226e-05 | 0.347644995759379 | 0.154915409893817 | 0.116716054880077 |
| CER | ADediting_793575 | chr19_7553434_+ | 0.0539800619120932 | 0.157671993154303 | 0.000148607883171275 | 0.304872224897544 | 6.73773985077251e-05 | 0.319505081855375 |
| CER | ADediting_793576 | chr19_7553437_+ | 0.0337964509415816 | 0.173436030650035 | 7.0439258871124e-07 | 0.39194910310622 | 0.000600463557121745 | 0.276987750909207 |
Correlation between ADAR gene expression and this gene's expression |
| Tissue | ADAR1 (p-val) | ADAR1 (coeff.) | ADAR2 (p-val) | ADAR2 (coeff.) | ADAR3 (p-val) | ADAR3 (coeff.) |
| DLPFC | 5.04589385076774e-06 | 0.255860770201173 | 3.95544985507366e-10 | 0.345687336253247 | 4.1659279155344e-18 | 0.465879365279831 |
| AC | 5.43951299759632e-08 | 0.335487668798746 | 2.11291398384294e-08 | 0.345116013135353 | 2.5344403211592e-05 | 0.262986161213807 |
| PCC | 2.55369639890728e-09 | 0.414294640294844 | 4.90251157550223e-10 | 0.430883711727811 | 0.0188248645514692 | 0.169844434229149 |
| CER | 0.000460537329717502 | 0.282510433344344 | 5.34429341896517e-16 | 0.59938163752359 | 9.8922510047667e-08 | 0.418452990116632 |
| TCX | 0.00018855709931358 | 0.300313779898754 | 0.0347490852526317 | 0.172532904242005 | 3.5752592903117e-05 | 0.330706747025888 |
| FP | 3.57682632639391e-10 | 0.448064720381594 | 0.000244366702365054 | 0.271660401385974 | 2.74108032804766e-14 | 0.530136307047472 |
| IFG | 1.28113129167744e-05 | 0.75517244499086 | 8.95673382669071e-07 | 0.810664770216071 | 0.0587320776024299 | 0.383084203243759 |
| PG | 0.86051582534572 | 0.0129711382957379 | 0.725695789183411 | 0.0258963276465471 | 1.72742445057622e-07 | 0.371897960346241 |
| STG | 4.43732430270597e-08 | 0.554489557355444 | 0.00244383999128526 | 0.326407876531591 | 7.68478917898463e-05 | 0.417774938845669 |
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Relation with AD stages for PNPLA6 |
Correlation between AD stages and RNA editing frequency |
| Tissue | ADeditomID | position | P-val | Coeff. |
| CER | ADediting_793576 | chr19_7553437_+ | 0.00112192671688968 | 0.309374550496066 |
Correlation between AD stages and this gene's expression |
| Tissue | P-val | Coeff. |
| CER | 3.62383997423831e-08 | 0.499905868602663 |
| TCX | 0.000230302573454816 | 0.350484757459571 |
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RelatedDrugs for PNPLA6 |
Approved drugs targeting this gene. (DrugBank Version 5.1.0 2018-04-02) |
| Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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RelatedDiseases for PNPLA6 |
Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| PNPLA6 | C3714756 | Intellectual Disability | 5 | GENOMICS_ENGLAND |
| PNPLA6 | C0085084 | Motor Neuron Disease | 2 | CTD_human |
| PNPLA6 | C0154681 | Anterior Horn Cell Disease | 2 | CTD_human |
| PNPLA6 | C0154682 | Lateral Sclerosis | 2 | CTD_human |
| PNPLA6 | C0270763 | Familial Motor Neuron Disease | 2 | CTD_human |
| PNPLA6 | C0270764 | Motor Neuron Disease, Lower | 2 | CTD_human |
| PNPLA6 | C0521659 | Motor Neuron Disease, Upper | 2 | CTD_human |
| PNPLA6 | C0543858 | Motor Neuron Disease, Secondary | 2 | CTD_human |
| PNPLA6 | C1859093 | Chorioretinal Dystrophy, Spinocerebellar Ataxia, and Hypogonadotropic Hypogonadism | 2 | CTD_human;ORPHANET;UNIPROT |
| PNPLA6 | C2677586 | Spastic Paraplegia 39, Autosomal Recessive | 2 | CTD_human;ORPHANET;UNIPROT |
| PNPLA6 | C0023138 | Laurence-Moon Syndrome | 1 | CTD_human;ORPHANET;UNIPROT |
| PNPLA6 | C0027765 | nervous system disorder | 1 | CTD_human |
| PNPLA6 | C0031117 | Peripheral Neuropathy | 1 | CTD_human |
| PNPLA6 | C0037050 | Sick Building Syndrome | 1 | CTD_human |
| PNPLA6 | C0037773 | Spastic Paraplegia, Hereditary | 1 | CTD_human;GENOMICS_ENGLAND |
| PNPLA6 | C0152025 | Polyneuropathy | 1 | CTD_human |
| PNPLA6 | C0271683 | Polyneuropathy, Motor | 1 | CTD_human |
| PNPLA6 | C0393851 | Polyneuropathy, Critical Illness | 1 | CTD_human |
| PNPLA6 | C0751448 | Polyneuropathy, Familial | 1 | CTD_human |
| PNPLA6 | C0751449 | Acquired Polyneuropathy | 1 | CTD_human |
| PNPLA6 | C0751602 | Hereditary Autosomal Dominant Spastic Paraplegia | 1 | CTD_human |
| PNPLA6 | C0751603 | Autosomal Recessive Hereditary Spastic Paraplegia | 1 | CTD_human |
| PNPLA6 | C0751604 | Hereditary X-Linked Recessive Spastic Paraplegia | 1 | CTD_human |
| PNPLA6 | C0751605 | X-Linked, Spastic Paraplegia, Hereditary | 1 | CTD_human |
| PNPLA6 | C1848745 | Oliver-McFarlane syndrome | 1 | CTD_human;ORPHANET;UNIPROT |