Imported Disease Annotations - CTDObject Symbol | Species | Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | CUL1 | Human | Stevens-Johnson syndrome | | EXP | | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | PMID:25811541 | |
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Imported Disease Annotations - CTDObject Symbol | Species | Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | CUL1 | Human | Stevens-Johnson syndrome | | EXP | | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | PMID:25811541 | |
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# | Reference Title | Reference Citation |
1. | GOAs Human GO annotations | GOA_HUMAN data from the GO Consortium |
2. | The Nrf2 regulatory network provides an interface between redox and intermediary metabolism. | Hayes JD and Dinkova-Kostova AT, Trends Biochem Sci. 2014 Apr;39(4):199-218. doi: 10.1016/j.tibs.2014.02.002. Epub 2014 Mar 16. |
3. | Expanding role of ubiquitination in NF-kappaB signaling. | Liu S and Chen ZJ, Cell Res. 2011 Jan;21(1):6-21. Epub 2010 Dec 7. |
4. | Modification of cullin-1 by ubiquitin-like protein Nedd8 enhances the activity of SCF(skp2) toward p27(kip1). | Morimoto M, etal., Biochem Biophys Res Commun. 2000 Apr 21;270(3):1093-6. |
5. | KEGG Annotation Import Pipeline | Pipeline to import KEGG annotations from KEGG into RGD |
6. | PID Annotation Import Pipeline | Pipeline to import Pathway Interaction Database annotations from NCI into RGD |
7. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
PMID:8681378 | PMID:8889548 | PMID:9430629 | PMID:9636170 | PMID:9663463 | PMID:9736735 | PMID:9827542 | PMID:9990852 | PMID:10023660 | PMID:10066435 | PMID:10230406 | PMID:10230407 |
PMID:10321728 | PMID:10531035 | PMID:10559858 | PMID:10559916 | PMID:10597293 | PMID:10644755 | PMID:10648623 | PMID:10713156 | PMID:10748083 | PMID:10790373 | PMID:10851089 | PMID:11027288 |
PMID:11032804 | PMID:11076863 | PMID:11158290 | PMID:11230166 | PMID:11231585 | PMID:11245432 | PMID:11337588 | PMID:11359933 | PMID:11384984 | PMID:11445862 | PMID:11483504 | PMID:11506706 |
PMID:11565034 | PMID:11585921 | PMID:11689688 | PMID:11717410 | PMID:11850407 | PMID:11861641 | PMID:11956208 | PMID:11961546 | PMID:11967155 | PMID:12140560 | PMID:12234927 | PMID:12417738 |
PMID:12477932 | PMID:12481031 | PMID:12504025 | PMID:12504026 | PMID:12565873 | PMID:12609982 | PMID:12628165 | PMID:12628923 | PMID:12679038 | PMID:12684064 | PMID:12690205 | PMID:12706828 |
PMID:12717421 | PMID:12759363 | PMID:12769844 | PMID:12791267 | PMID:12820959 | PMID:12840033 | PMID:12853948 | PMID:12861003 | PMID:12904573 | PMID:14508008 | PMID:14603323 | PMID:14673179 |
PMID:14681206 | PMID:14685242 | PMID:14702039 | PMID:14743216 | PMID:14752276 | PMID:15103331 | PMID:15113913 | PMID:15118074 | PMID:15145941 | PMID:15361859 | PMID:15448697 | PMID:15452136 |
PMID:15456869 | PMID:15469984 | PMID:15489334 | PMID:15489336 | PMID:15536641 | PMID:15537541 | PMID:15604093 | PMID:15640526 | PMID:15759013 | PMID:15798217 | PMID:15966899 | PMID:16009132 |
PMID:16036220 | PMID:16045761 | PMID:16051867 | PMID:16103149 | PMID:16123585 | PMID:16123592 | PMID:16137618 | PMID:16196087 | PMID:16275325 | PMID:16278047 | PMID:16357137 | PMID:16381901 |
PMID:16410731 | PMID:16503656 | PMID:16620772 | PMID:16714087 | PMID:16759355 | PMID:16774918 | PMID:16797541 | PMID:16861300 | PMID:16880511 | PMID:17015689 | PMID:17028207 | PMID:17079684 |
PMID:17081987 | PMID:17098746 | PMID:17148452 | PMID:17205132 | PMID:17215248 | PMID:17254749 | PMID:17274640 | PMID:17290223 | PMID:17318178 | PMID:17353931 | PMID:17389604 | PMID:17429597 |
PMID:17438373 | PMID:17439941 | PMID:17452440 | PMID:17463251 | PMID:17494702 | PMID:17550899 | PMID:17569795 | PMID:17704768 | PMID:17914462 | PMID:18056411 | PMID:18071316 | PMID:18094045 |
PMID:18173839 | PMID:18203720 | PMID:18239684 | PMID:18264111 | PMID:18274552 | PMID:18354482 | PMID:18378770 | PMID:18495667 | PMID:18606781 | PMID:18644861 | PMID:18650423 | PMID:18660753 |
PMID:18667692 | PMID:18723677 | PMID:18765672 | PMID:18775313 | PMID:18784078 | PMID:18805092 | PMID:18809579 | PMID:18818696 | PMID:18826954 | PMID:18851830 | PMID:18929646 | PMID:19028597 |
PMID:19037258 | PMID:19066453 | PMID:19141280 | PMID:19150432 | PMID:19193609 | PMID:19245792 | PMID:19250909 | PMID:19256485 | PMID:19270694 | PMID:19295130 | PMID:19349673 | PMID:19398581 |
PMID:19509332 | PMID:19581926 | PMID:19596235 | PMID:19615732 | PMID:19617556 | PMID:19656241 | PMID:19679553 | PMID:19713960 | PMID:19738611 | PMID:19762596 | PMID:19762597 | PMID:19779646 |
PMID:19786724 | PMID:19933270 | PMID:19935701 | PMID:19942853 | PMID:19945379 | PMID:19966869 | PMID:20068069 | PMID:20160477 | PMID:20190741 | PMID:20198633 | PMID:20379614 | PMID:20399188 |
PMID:20467437 | PMID:20473970 | PMID:20518860 | PMID:20596027 | PMID:20638939 | PMID:20708156 | PMID:20832730 | PMID:20847044 | PMID:20878082 | PMID:21102408 | PMID:21119685 | PMID:21130766 |
PMID:21135578 | PMID:21145461 | PMID:21169563 | PMID:21190721 | PMID:21205095 | PMID:21247897 | PMID:21249194 | PMID:21572392 | PMID:21572988 | PMID:21640084 | PMID:21725316 | PMID:21738080 |
PMID:21757720 | PMID:21765416 | PMID:21778237 | PMID:21813641 | PMID:21873635 | PMID:21903097 | PMID:21946088 | PMID:21988832 | PMID:22013077 | PMID:22017875 | PMID:22017876 | PMID:22113614 |
PMID:22190034 | PMID:22190037 | PMID:22268729 | PMID:22310285 | PMID:22388891 | PMID:22399757 | PMID:22405651 | PMID:22450327 | PMID:22464731 | PMID:22466964 | PMID:22474075 | PMID:22479149 |
PMID:22524983 | PMID:22590978 | PMID:22632967 | PMID:22632973 | PMID:22660580 | PMID:22674379 | PMID:22711876 | PMID:22730322 | PMID:22748924 | PMID:22767593 | PMID:22822056 | PMID:22851693 |
PMID:22863883 | PMID:22939624 | PMID:22939629 | PMID:22956996 | PMID:22959436 | PMID:22972877 | PMID:22975506 | PMID:23019411 | PMID:23027877 | PMID:23108047 | PMID:23109433 | PMID:23201271 |
PMID:23213463 | PMID:23263282 | PMID:23297342 | PMID:23319600 | PMID:23322298 | PMID:23324393 | PMID:23408908 | PMID:23429288 | PMID:23452855 | PMID:23452856 | PMID:23453757 | PMID:23469015 |
PMID:23554956 | PMID:23563313 | PMID:23589227 | PMID:23592700 | PMID:23624913 | PMID:23658844 | PMID:23770852 | PMID:23776465 | PMID:23868976 | PMID:23951410 | PMID:23972993 | PMID:24035498 |
PMID:24076655 | PMID:24082123 | PMID:24085301 | PMID:24157836 | PMID:24192928 | PMID:24211582 | PMID:24269809 | PMID:24318128 | PMID:24332808 | PMID:24349473 | PMID:24390425 | PMID:24457600 |
PMID:24469040 | PMID:24500709 | PMID:24657926 | PMID:24700029 | PMID:24767980 | PMID:24778179 | PMID:24785407 | PMID:24793136 | PMID:24794231 | PMID:24804778 | PMID:24811749 | PMID:24819753 |
PMID:24912918 | PMID:24949976 | PMID:24973710 | PMID:25143387 | PMID:25144743 | PMID:25201578 | PMID:25241761 | PMID:25249620 | PMID:25332235 | PMID:25349211 | PMID:25411243 | PMID:25425648 |
PMID:25435324 | PMID:25488749 | PMID:25505247 | PMID:25515538 | PMID:25557911 | PMID:25582197 | PMID:25585578 | PMID:25593308 | PMID:25609649 | PMID:25652886 | PMID:25654763 | PMID:25670854 |
PMID:25720964 | PMID:25728766 | PMID:25756610 | PMID:25900982 | PMID:25921289 | PMID:25970626 | PMID:25973042 | PMID:26085330 | PMID:26087183 | PMID:26097587 | PMID:26112410 | PMID:26124079 |
PMID:26124108 | PMID:26186194 | PMID:26265931 | PMID:26344197 | PMID:26400522 | PMID:26474281 | PMID:26496610 | PMID:26511642 | PMID:26540345 | PMID:26631746 | PMID:26632597 | PMID:26638075 |
PMID:26666832 | PMID:26717892 | PMID:26725323 | PMID:26753747 | PMID:26774286 | PMID:26790640 | PMID:26885983 | PMID:26906416 | PMID:26972000 | PMID:26976582 | PMID:26976604 | PMID:27001857 |
PMID:27029215 | PMID:27114451 | PMID:27234298 | PMID:27312089 | PMID:27348078 | PMID:27365398 | PMID:27383304 | PMID:27432908 | PMID:27449035 | PMID:27462432 | PMID:27497298 | PMID:27503909 |
PMID:27542266 | PMID:27565346 | PMID:27568981 | PMID:27591266 | PMID:27609421 | PMID:27677741 | PMID:27684187 | PMID:27697867 | PMID:27705803 | PMID:27716508 | PMID:27754753 | PMID:27773672 |
PMID:27774986 | PMID:27780719 | PMID:27833851 | PMID:27910872 | PMID:28007894 | PMID:28049764 | PMID:28090088 | PMID:28152074 | PMID:28180282 | PMID:28229514 | PMID:28269751 | PMID:28315506 |
PMID:28443643 | PMID:28475037 | PMID:28514442 | PMID:28522751 | PMID:28560438 | PMID:28581483 | PMID:28599312 | PMID:28614300 | PMID:28715492 | PMID:28776569 | PMID:28805820 | PMID:28883095 |
PMID:28923850 | PMID:28947420 | PMID:28954236 | PMID:28977802 | PMID:29053956 | PMID:29070679 | PMID:29103612 | PMID:29137415 | PMID:29142209 | PMID:29149593 | PMID:29160310 | PMID:29229926 |
PMID:29331416 | PMID:29370161 | PMID:29395067 | PMID:29408378 | PMID:29420262 | PMID:29435596 | PMID:29467282 | PMID:29497989 | PMID:29499133 | PMID:29507620 | PMID:29507755 | PMID:29564676 |
PMID:29695787 | PMID:29863914 | PMID:29871923 | PMID:29884807 | PMID:29945959 | PMID:29958295 | PMID:30018425 | PMID:30177679 | PMID:30190310 | PMID:30240640 | PMID:30258100 | PMID:30349055 |
PMID:30428154 | PMID:30526252 | PMID:30554948 | PMID:30575818 | PMID:30578411 | PMID:30587576 | PMID:30653357 | PMID:30655559 | PMID:30659753 | PMID:30685895 | PMID:30714168 | PMID:30804394 |
PMID:30804502 | PMID:30833792 | PMID:30940648 | PMID:30948266 | PMID:31043584 | PMID:31091453 | PMID:31130363 | PMID:31160578 | PMID:31175550 | PMID:31217475 | PMID:31269066 | PMID:31285543 |
PMID:31289136 | PMID:31296559 | PMID:31319543 | PMID:31406304 | PMID:31549767 | PMID:31560077 | PMID:31577344 | PMID:31586073 | PMID:31678254 | PMID:31754404 | PMID:31787846 | PMID:31843895 |
PMID:31871319 | PMID:31950832 | PMID:32015321 | PMID:32047038 | PMID:32086376 | PMID:32126207 | PMID:32129710 | PMID:32145688 | PMID:32176739 | PMID:32186736 | PMID:32235678 | PMID:32249768 |
PMID:32313199 | PMID:32344865 | PMID:32350066 | PMID:32416067 | PMID:32460168 | PMID:32552912 | PMID:32565880 | PMID:32576198 | PMID:32726803 | PMID:32807901 | PMID:32811853 | PMID:32871949 |
PMID:32877691 | PMID:32891887 | PMID:32931083 | PMID:32937135 | PMID:33016927 | PMID:33144569 | PMID:33173725 | PMID:33239621 | PMID:33306668 | PMID:33422522 | PMID:33478195 | PMID:33504946 |
PMID:33549845 | PMID:33692209 | PMID:33731859 | PMID:33742100 | PMID:33961781 | PMID:33962073 | PMID:34060591 | PMID:34133001 | PMID:34133714 | PMID:34189442 | PMID:34237211 | PMID:34299191 |
PMID:34333526 | PMID:34349018 | PMID:34373451 | PMID:34478796 | PMID:34480022 | PMID:34499862 | PMID:34515398 | PMID:34591642 | PMID:34635651 | PMID:34644148 | PMID:34703820 | PMID:34706096 |
PMID:34709416 | PMID:34831298 | PMID:34857952 | PMID:35008511 | PMID:35073459 | PMID:35156780 | PMID:35194188 | PMID:35231559 | PMID:35235311 | PMID:35241646 | PMID:35271311 | PMID:35337019 |
PMID:35384245 | PMID:35439318 | PMID:35474067 | PMID:35563538 | PMID:35671810 | PMID:35713976 | PMID:35813202 | PMID:35819319 | PMID:35831314 | PMID:35864508 | PMID:35869491 | PMID:35944360 |
PMID:35982156 | PMID:36012204 | PMID:36037385 | PMID:36044955 | PMID:36076154 | PMID:36114006 | PMID:36115843 | PMID:36129980 | PMID:36168627 | PMID:36215168 | PMID:36244648 | PMID:36278408 |
PMID:36289220 | PMID:36318477 | PMID:36423380 | PMID:36543142 | PMID:36574265 | PMID:36608670 | PMID:36662618 | PMID:36736316 | PMID:36774506 | PMID:36841324 | PMID:36855778 | PMID:36880596 |
PMID:36896912 | PMID:36990424 | PMID:37028429 | PMID:37039990 | PMID:37091236 | PMID:37105989 | PMID:37161784 | PMID:37167062 | PMID:37243816 | PMID:37267103 | PMID:37279268 | PMID:37827155 |
PMID:38126621 | PMID:38226814 | PMID:38580884 | PMID:38803224 | PMID:39003567 |
CUL1 (Homo sapiens - human) |
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Cul1 (Mus musculus - house mouse) |
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Cul1 (Rattus norvegicus - Norway rat) |
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Cul1 (Chinchilla lanigera - long-tailed chinchilla) |
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CUL1 (Pan paniscus - bonobo/pygmy chimpanzee) |
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CUL1 (Canis lupus familiaris - dog) |
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Cul1 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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CUL1 (Sus scrofa - pig) |
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CUL1 (Chlorocebus sabaeus - green monkey) |
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Cul1 (Heterocephalus glaber - naked mole-rat) |
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Variants in CUL1
11 total Variants |
Name | Type | Condition(s) | Position(s) | Clinical significance |
GRCh38/hg38 7q35-36.1(chr7:147345844-150426340)x1 | copy number loss | See cases [RCV000050838] | Chr7:147345844..150426340 [GRCh38] Chr7:147042936..150123428 [GRCh37] Chr7:146673869..149754361 [NCBI36] Chr7:7q35-36.1 |
pathogenic |
GRCh38/hg38 7q32.1-36.3(chr7:129310166-159282390)x3 | copy number gain | See cases [RCV000050876] | Chr7:129310166..159282390 [GRCh38] Chr7:128950007..159075079 [GRCh37] Chr7:128737243..158767840 [NCBI36] Chr7:7q32.1-36.3 |
pathogenic |
GRCh38/hg38 7q35-36.1(chr7:143884559-152674271)x1 | copy number loss | See cases [RCV000050750] | Chr7:143884559..152674271 [GRCh38] Chr7:143581652..152371356 [GRCh37] Chr7:143212585..152002289 [NCBI36] Chr7:7q35-36.1 |
pathogenic |
GRCh38/hg38 7q32.3-36.3(chr7:132850196-159325876)x3 | copy number gain | See cases [RCV000051101] | Chr7:132850196..159325876 [GRCh38] Chr7:132534956..159118566 [GRCh37] Chr7:132185496..158811327 [NCBI36] Chr7:7q32.3-36.3 |
pathogenic |
GRCh38/hg38 7q35-36.3(chr7:147250465-159325876)x1 | copy number loss | See cases [RCV000051108] | Chr7:147250465..159325876 [GRCh38] Chr7:146947557..159118566 [GRCh37] Chr7:146578490..158811327 [NCBI36] Chr7:7q35-36.3 |
pathogenic |
GRCh38/hg38 7p22.3-q36.3(chr7:53985-159282531)x1 | copy number loss | See cases [RCV000052250] | Chr7:53985..159282531 [GRCh38] Chr7:53985..159075220 [GRCh37] Chr7:149068..158767981 [NCBI36] Chr7:7p22.3-q36.3 |
pathogenic |
GRCh38/hg38 7q33-36.3(chr7:136309982-159307523)x3 | copy number gain | See cases [RCV000053576] | Chr7:136309982..159307523 [GRCh38] Chr7:135994730..159100212 [GRCh37] Chr7:135645270..158792973 [NCBI36] Chr7:7q33-36.3 |
pathogenic |
GRCh38/hg38 7q34-36.3(chr7:142021716-159325876)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053577]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053577]|See cases [RCV000053577] | Chr7:142021716..159325876 [GRCh38] Chr7:142528609..159118566 [GRCh37] Chr7:141367985..158811327 [NCBI36] Chr7:7q34-36.3 |
pathogenic |
GRCh38/hg38 7q35-36.3(chr7:143884559-159282390)x1 | copy number loss | See cases [RCV000054178] | Chr7:143884559..159282390 [GRCh38] Chr7:143581652..159075079 [GRCh37] Chr7:143212585..158767840 [NCBI36] Chr7:7q35-36.3 |
pathogenic |
GRCh38/hg38 7q35-36.3(chr7:145699944-159296617)x1 | copy number loss | See cases [RCV000054188] | Chr7:145699944..159296617 [GRCh38] Chr7:145397037..159089306 [GRCh37] Chr7:145027970..158782067 [NCBI36] Chr7:7q35-36.3 |
pathogenic |
GRCh38/hg38 7q36.1(chr7:148256584-152332535)x1 | copy number loss | See cases [RCV000054189] | Chr7:148256584..152332535 [GRCh38] Chr7:147953676..152029620 [GRCh37] Chr7:147584609..151660553 [NCBI36] Chr7:7q36.1 |
pathogenic |
GRCh38/hg38 7q32.3-36.1(chr7:132023155-149309794)x1 | copy number loss | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054172]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054172]|See cases [RCV000054172] | Chr7:132023155..149309794 [GRCh38] Chr7:131707914..149006885 [GRCh37] Chr7:131358454..148637818 [NCBI36] Chr7:7q32.3-36.1 |
pathogenic |
GRCh38/hg38 7q34-36.3(chr7:139365967-159282531)x1 | copy number loss | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054175]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054175]|See cases [RCV000054175] | Chr7:139365967..159282531 [GRCh38] Chr7:139050713..159075220 [GRCh37] Chr7:138701253..158767981 [NCBI36] Chr7:7q34-36.3 |
pathogenic |
GRCh38/hg38 7q34-36.3(chr7:140754198-159307523)x1 | copy number loss | See cases [RCV000054176] | Chr7:140754198..159307523 [GRCh38] Chr7:140453998..159100212 [GRCh37] Chr7:140100467..158792973 [NCBI36] Chr7:7q34-36.3 |
pathogenic |
GRCh38/hg38 7q34-36.3(chr7:142358524-159282531)x1 | copy number loss | See cases [RCV000054177] | Chr7:142358524..159282531 [GRCh38] Chr7:142528609..159075220 [GRCh37] Chr7:141726947..158767981 [NCBI36] Chr7:7q34-36.3 |
pathogenic |
GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1 | copy number loss | See cases [RCV000135401] | Chr7:54185..159282390 [GRCh38] Chr7:54185..159075079 [GRCh37] Chr7:149268..158767840 [NCBI36] Chr7:7p22.3-q36.3 |
pathogenic |
GRCh38/hg38 7q35-36.2(chr7:147345844-153833351)x3 | copy number gain | See cases [RCV000135825] | Chr7:147345844..153833351 [GRCh38] Chr7:147042936..153530436 [GRCh37] Chr7:146673869..153161369 [NCBI36] Chr7:7q35-36.2 |
pathogenic |
GRCh38/hg38 7q33-36.2(chr7:137751200-154815582)x3 | copy number gain | See cases [RCV000136592] | Chr7:137751200..154815582 [GRCh38] Chr7:137435946..154607292 [GRCh37] Chr7:137086486..154238225 [NCBI36] Chr7:7q33-36.2 |
pathogenic |
GRCh38/hg38 7q35-36.1(chr7:145999194-148860586)x1 | copy number loss | See cases [RCV000135939] | Chr7:145999194..148860586 [GRCh38] Chr7:145696287..148557678 [GRCh37] Chr7:145327220..148188611 [NCBI36] Chr7:7q35-36.1 |
likely pathogenic |
GRCh38/hg38 7q21.3-36.3(chr7:97419852-158923762)x3 | copy number gain | See cases [RCV000136717] | Chr7:97419852..158923762 [GRCh38] Chr7:97049164..158716453 [GRCh37] Chr7:96887100..158409214 [NCBI36] Chr7:7q21.3-36.3 |
pathogenic |
GRCh38/hg38 7q34-36.3(chr7:141960861-159335866)x1 | copy number loss | See cases [RCV000137256] | Chr7:141960861..159335866 [GRCh38] Chr7:142528609..159128556 [GRCh37] Chr7:141307130..158821317 [NCBI36] Chr7:7q34-36.3 |
pathogenic |
GRCh38/hg38 7q35-36.3(chr7:145436544-159331441)x1 | copy number loss | See cases [RCV000137338] | Chr7:145436544..159331441 [GRCh38] Chr7:145133637..159124131 [GRCh37] Chr7:144764570..158816892 [NCBI36] Chr7:7q35-36.3 |
pathogenic|likely pathogenic |
GRCh38/hg38 7q35-36.3(chr7:145250254-159335866)x1 | copy number loss | See cases [RCV000138005] | Chr7:145250254..159335866 [GRCh38] Chr7:144947347..159128556 [GRCh37] Chr7:144578280..158821317 [NCBI36] Chr7:7q35-36.3 |
pathogenic |
GRCh38/hg38 7q33-36.3(chr7:134666829-158591882)x1 | copy number loss | See cases [RCV000138120] | Chr7:134666829..158591882 [GRCh38] Chr7:134351581..158384574 [GRCh37] Chr7:134002121..158077335 [NCBI36] Chr7:7q33-36.3 |
pathogenic |
GRCh38/hg38 7q35-36.3(chr7:146047157-157522158)x1 | copy number loss | See cases [RCV000137781] | Chr7:146047157..157522158 [GRCh38] Chr7:145744250..157314852 [GRCh37] Chr7:145375183..157007613 [NCBI36] Chr7:7q35-36.3 |
pathogenic |
GRCh38/hg38 7q31.32-36.3(chr7:121863759-159335865)x3 | copy number gain | See cases [RCV000138847] | Chr7:121863759..159335865 [GRCh38] Chr7:121503813..159128555 [GRCh37] Chr7:121291049..158821316 [NCBI36] Chr7:7q31.32-36.3 |
pathogenic |
GRCh38/hg38 7q35-36.1(chr7:143596735-150089125)x4 | copy number gain | See cases [RCV000138555] | Chr7:143596735..150089125 [GRCh38] Chr7:143293828..149786214 [GRCh37] Chr7:143003950..149417147 [NCBI36] Chr7:7q35-36.1 |
likely pathogenic |
GRCh38/hg38 7q33-36.1(chr7:135017687-148807400)x1 | copy number loss | See cases [RCV000138903] | Chr7:135017687..148807400 [GRCh38] Chr7:134702438..148504492 [GRCh37] Chr7:134352978..148135425 [NCBI36] Chr7:7q33-36.1 |
pathogenic |
GRCh38/hg38 7q32.3-36.3(chr7:132444095-159335866)x3 | copy number gain | See cases [RCV000139654] | Chr7:132444095..159335866 [GRCh38] Chr7:132128854..159128556 [GRCh37] Chr7:131779394..158821317 [NCBI36] Chr7:7q32.3-36.3 |
pathogenic |
GRCh38/hg38 7q31.2-36.3(chr7:115459015-159325817)x3 | copy number gain | See cases [RCV000141413] | Chr7:115459015..159325817 [GRCh38] Chr7:115099069..159118507 [GRCh37] Chr7:114886305..158811268 [NCBI36] Chr7:7q31.2-36.3 |
pathogenic |
GRCh38/hg38 7q32.3-36.3(chr7:131228764-159335866)x3 | copy number gain | See cases [RCV000142802] | Chr7:131228764..159335866 [GRCh38] Chr7:130913523..159128556 [GRCh37] Chr7:130564063..158821317 [NCBI36] Chr7:7q32.3-36.3 |
pathogenic |
GRCh38/hg38 7q32.3-36.3(chr7:131171478-159327017)x3 | copy number gain | See cases [RCV000143754] | Chr7:131171478..159327017 [GRCh38] Chr7:130856237..159119707 [GRCh37] Chr7:130506777..158812468 [NCBI36] Chr7:7q32.3-36.3 |
pathogenic |
GRCh38/hg38 7q32.3-36.3(chr7:132438072-159327017)x3 | copy number gain | See cases [RCV000143707] | Chr7:132438072..159327017 [GRCh38] Chr7:132122831..159119707 [GRCh37] Chr7:131773371..158812468 [NCBI36] Chr7:7q32.3-36.3 |
pathogenic |
GRCh38/hg38 7q35-36.3(chr7:147144002-159327017)x1 | copy number loss | See cases [RCV000143503] | Chr7:147144002..159327017 [GRCh38] Chr7:146841094..159119707 [GRCh37] Chr7:146472027..158812468 [NCBI36] Chr7:7q35-36.3 |
pathogenic |
GRCh37/hg19 7q32.1-36.3(chr7:128312450-159119220) | copy number gain | not provided [RCV000767558] | Chr7:128312450..159119220 [GRCh37] Chr7:7q32.1-36.3 |
pathogenic |
GRCh37/hg19 7q33-36.3(chr7:137589621-159119707)x3 | copy number gain | See cases [RCV000449264] | Chr7:137589621..159119707 [GRCh37] Chr7:7q33-36.3 |
pathogenic |
GRCh37/hg19 7p22.3-q36.3(chr7:43360-159119707)x1 | copy number loss | See cases [RCV000446044] | Chr7:43360..159119707 [GRCh37] Chr7:7p22.3-q36.3 |
pathogenic |
GRCh37/hg19 7q35-36.3(chr7:143839360-159138663) | copy number loss | Abnormal esophagus morphology [RCV000416719] | Chr7:143839360..159138663 [GRCh37] Chr7:7q35-36.3 |
pathogenic |
GRCh37/hg19 7q22.1-36.3(chr7:98969247-159119707)x3 | copy number gain | See cases [RCV000447709] | Chr7:98969247..159119707 [GRCh37] Chr7:7q22.1-36.3 |
pathogenic |
GRCh37/hg19 7q33-36.3(chr7:133799185-159119707)x1 | copy number loss | See cases [RCV000448836] | Chr7:133799185..159119707 [GRCh37] Chr7:7q33-36.3 |
pathogenic |
GRCh37/hg19 7q32.1-36.3(chr7:128276078-159119707)x3 | copy number gain | See cases [RCV000447956] | Chr7:128276078..159119707 [GRCh37] Chr7:7q32.1-36.3 |
pathogenic |
GRCh37/hg19 7q34-36.3(chr7:140636858-159119707)x1 | copy number loss | See cases [RCV000510250] | Chr7:140636858..159119707 [GRCh37] Chr7:7q34-36.3 |
pathogenic |
GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707) | copy number gain | See cases [RCV000510686] | Chr7:43361..159119707 [GRCh37] Chr7:7p22.3-q36.3 |
pathogenic |
GRCh37/hg19 7q33-36.3(chr7:136758593-159119707)x3 | copy number gain | See cases [RCV000510490] | Chr7:136758593..159119707 [GRCh37] Chr7:7q33-36.3 |
pathogenic |
GRCh37/hg19 7q33-36.3(chr7:137917376-159119707)x1 | copy number loss | See cases [RCV000511889] | Chr7:137917376..159119707 [GRCh37] Chr7:7q33-36.3 |
pathogenic |
GRCh37/hg19 7q36.1(chr7:148189771-150867270)x4 | copy number gain | See cases [RCV000511618] | Chr7:148189771..150867270 [GRCh37] Chr7:7q36.1 |
uncertain significance |
GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3 | copy number gain | See cases [RCV000511549] | Chr7:43361..159119707 [GRCh37] Chr7:7p22.3-q36.3 |
pathogenic |
GRCh38/hg38 7q34-36.3(chr7:138620939-159233475)x3 | copy number gain | Neurodevelopmental disorder [RCV003327610] | Chr7:138620939..159233475 [GRCh38] Chr7:7q34-36.3 |
likely pathogenic |
GRCh37/hg19 7q34-36.3(chr7:140133025-158982771)x1 | copy number loss | not provided [RCV000682910] | Chr7:140133025..158982771 [GRCh37] Chr7:7q34-36.3 |
pathogenic |
GRCh37/hg19 7q22.1-36.3(chr7:98693388-159119707)x3 | copy number gain | not provided [RCV000682911] | Chr7:98693388..159119707 [GRCh37] Chr7:7q22.1-36.3 |
pathogenic |
GRCh37/hg19 7p22.3-q36.3(chr7:44935-159126310)x3 | copy number gain | not provided [RCV000746280] | Chr7:44935..159126310 [GRCh37] Chr7:7p22.3-q36.3 |
pathogenic |
GRCh37/hg19 7p22.3-q36.3(chr7:10704-159122532)x3 | copy number gain | not provided [RCV000746278] | Chr7:10704..159122532 [GRCh37] Chr7:7p22.3-q36.3 |
pathogenic |
GRCh37/hg19 7q34-36.3(chr7:139623170-158329903)x3 | copy number gain | not provided [RCV000747070] | Chr7:139623170..158329903 [GRCh37] Chr7:7q34-36.3 |
pathogenic |
GRCh37/hg19 7q34-36.3(chr7:141938235-159126310)x1 | copy number loss | not provided [RCV000747083] | Chr7:141938235..159126310 [GRCh37] Chr7:7q34-36.3 |
pathogenic |
GRCh37/hg19 7q35-36.1(chr7:143711059-152573935)x3 | copy number gain | not provided [RCV000747094] | Chr7:143711059..152573935 [GRCh37] Chr7:7q35-36.1 |
benign |
GRCh37/hg19 7q36.1-36.3(chr7:148238976-159126310)x1 | copy number loss | not provided [RCV000747115] | Chr7:148238976..159126310 [GRCh37] Chr7:7q36.1-36.3 |
pathogenic |
GRCh37/hg19 7q36.1(chr7:148394595-148395978)x3 | copy number gain | not provided [RCV000747116] | Chr7:148394595..148395978 [GRCh37] Chr7:7q36.1 |
benign |
GRCh37/hg19 7q36.1(chr7:148395124-148395948)x4 | copy number gain | not provided [RCV000747117] | Chr7:148395124..148395948 [GRCh37] Chr7:7q36.1 |
benign |
GRCh37/hg19 7q36.1(chr7:148395124-148395978)x4 | copy number gain | not provided [RCV000747118] | Chr7:148395124..148395978 [GRCh37] Chr7:7q36.1 |
benign |
GRCh37/hg19 7q36.1(chr7:148395124-148396168)x4 | copy number gain | not provided [RCV000747119] | Chr7:148395124..148396168 [GRCh37] Chr7:7q36.1 |
benign |
GRCh37/hg19 7q36.1(chr7:148395124-148396278)x3 | copy number gain | not provided [RCV000747120] | Chr7:148395124..148396278 [GRCh37] Chr7:7q36.1 |
benign |
GRCh37/hg19 7q36.1(chr7:148395838-148396655)x1 | copy number loss | not provided [RCV000747121] | Chr7:148395838..148396655 [GRCh37] Chr7:7q36.1 |
benign |
GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3 | copy number gain | not provided [RCV000848126] | Chr7:10365..159119707 [GRCh37] Chr7:7p22.3-q36.3 |
pathogenic |
NM_003592.3(CUL1):c.470A>G (p.Tyr157Cys) | single nucleotide variant | not specified [RCV004309877] | Chr7:148757137 [GRCh38] Chr7:148454229 [GRCh37] Chr7:7q36.1 |
uncertain significance |
Single allele | duplication | not provided [RCV000844986] | Chr7:147897705..149874566 [GRCh37] Chr7:7q35-36.1 |
not provided |
GRCh37/hg19 7q32.3-36.3(chr7:131414604-159126310)x1 | copy number loss | See cases [RCV001007432] | Chr7:131414604..159126310 [GRCh37] Chr7:7q32.3-36.3 |
pathogenic |
GRCh37/hg19 7q32.3-36.3(chr7:130592554-159119707)x3 | copy number gain | not provided [RCV000849569] | Chr7:130592554..159119707 [GRCh37] Chr7:7q32.3-36.3 |
pathogenic |
GRCh37/hg19 7q31.1-36.3(chr7:109251060-159119707)x3 | copy number gain | not provided [RCV001005994] | Chr7:109251060..159119707 [GRCh37] Chr7:7q31.1-36.3 |
pathogenic |
GRCh37/hg19 7q35-36.3(chr7:145962558-159119707)x1 | copy number loss | not provided [RCV001006022] | Chr7:145962558..159119707 [GRCh37] Chr7:7q35-36.3 |
pathogenic |
NC_000007.13:g.(?_147600637)_(148544390_?)dup | duplication | Cortical dysplasia-focal epilepsy syndrome [RCV004579600]|Weaver syndrome [RCV003113489] | Chr7:147600637..148544390 [GRCh37] Chr7:7q35-36.1 |
uncertain significance |
NC_000007.14:g.(?_146116001)_(148847318_?)del | deletion | Cortical dysplasia-focal epilepsy syndrome [RCV001033573] | Chr7:145813093..148544410 [GRCh37] Chr7:7q35-36.1 |
pathogenic |
NC_000007.14:g.(?_146116001)_(148847318_?)dup | duplication | Cortical dysplasia-focal epilepsy syndrome [RCV001032388] | Chr7:145813093..148544410 [GRCh37] Chr7:7q35-36.1 |
uncertain significance |
NC_000007.14:g.(?_147395589)_(148847318_?)del | deletion | Cortical dysplasia-focal epilepsy syndrome [RCV001033596] | Chr7:147092681..148544410 [GRCh37] Chr7:7q35-36.1 |
pathogenic |
GRCh37/hg19 7q35-36.1(chr7:147897705-149874566)x3 | copy number loss | not provided [RCV001249216] | Chr7:147897705..149874566 [GRCh37] Chr7:7q35-36.1 |
not provided |
GRCh37/hg19 7q35-36.3(chr7:143107740-156886246)x3 | copy number gain | not provided [RCV001249383] | Chr7:143107740..156886246 [GRCh37] Chr7:7q35-36.3 |
not provided |
GRCh37/hg19 7q36.1(chr7:148370799-148659745)x3 | copy number gain | not provided [RCV001258983] | Chr7:148370799..148659745 [GRCh37] Chr7:7q36.1 |
uncertain significance |
NC_000007.13:g.(?_145813093)_(148544390_?)dup | duplication | Cortical dysplasia-focal epilepsy syndrome [RCV001314626] | Chr7:145813093..148544390 [GRCh37] Chr7:7q35-36.1 |
uncertain significance |
GRCh37/hg19 7q33-36.3(chr7:133851002-159119707)x3 | copy number gain | not provided [RCV001834520] | Chr7:133851002..159119707 [GRCh37] Chr7:7q33-36.3 |
pathogenic |
GRCh37/hg19 7q36.1-36.3(chr7:148153261-157543640)x3 | copy number gain | not provided [RCV001827941] | Chr7:148153261..157543640 [GRCh37] Chr7:7q36.1-36.3 |
pathogenic |
NC_000007.13:g.(?_146471343)_(148544390_?)del | deletion | Cortical dysplasia-focal epilepsy syndrome [RCV003116694] | Chr7:146471343..148544390 [GRCh37] Chr7:7q35-36.1 |
pathogenic |
NC_000007.13:g.(?_145813969)_(148544390_?)dup | duplication | Cortical dysplasia-focal epilepsy syndrome [RCV003116701] | Chr7:145813969..148544390 [GRCh37] Chr7:7q35-36.1 |
uncertain significance |
NC_000007.13:g.(?_130781014)_(150301047_?)del | deletion | not provided [RCV003116360] | Chr7:130781014..150301047 [GRCh37] Chr7:7q32.3-36.1 |
pathogenic |
NM_003592.3(CUL1):c.811G>T (p.Glu271Ter) | single nucleotide variant | not provided [RCV003233385] | Chr7:148766582 [GRCh38] Chr7:148463674 [GRCh37] Chr7:7q36.1 |
uncertain significance |
Single allele | complex | Ring chromosome 7 [RCV002280646] | Chr7:43360..159119707 [GRCh37] Chr7:7p22.3-q36.3 |
pathogenic |
GRCh37/hg19 7q35-36.3(chr7:146927174-159128556)x3 | copy number gain | not provided [RCV002279740] | Chr7:146927174..159128556 [GRCh37] Chr7:7q35-36.3 |
pathogenic |
GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1 | copy number loss | See cases [RCV002287832] | Chr7:56604613..96692931 [GRCh37] Chr7:7p22.3-q36.3 |
uncertain significance |
GRCh37/hg19 7q32.3-36.1(chr7:131779213-149042734)x1 | copy number loss | not provided [RCV002472560] | Chr7:131779213..149042734 [GRCh37] Chr7:7q32.3-36.1 |
pathogenic |
NM_003592.3(CUL1):c.374A>G (p.Asp125Gly) | single nucleotide variant | not specified [RCV004103783] | Chr7:148757041 [GRCh38] Chr7:148454133 [GRCh37] Chr7:7q36.1 |
uncertain significance |
NM_003592.3(CUL1):c.1565A>G (p.Lys522Arg) | single nucleotide variant | not specified [RCV004225660] | Chr7:148788642 [GRCh38] Chr7:148485734 [GRCh37] Chr7:7q36.1 |
uncertain significance |
NM_003592.3(CUL1):c.13C>T (p.Arg5Trp) | single nucleotide variant | not specified [RCV004299985] | Chr7:148730135 [GRCh38] Chr7:148427227 [GRCh37] Chr7:7q36.1 |
uncertain significance |
GRCh38/hg38 7q33-36.3(chr7:137463392-159345973)x3 | copy number gain | Neurodevelopmental disorder [RCV003327609] | Chr7:137463392..159345973 [GRCh38] Chr7:7q33-36.3 |
pathogenic |
GRCh37/hg19 7q34-36.1(chr7:140154317-152551638)x1 | copy number loss | not provided [RCV003334300] | Chr7:140154317..152551638 [GRCh37] Chr7:7q34-36.1 |
pathogenic |
GRCh37/hg19 7q35-36.3(chr7:144940098-159119707)x1 | copy number loss | not provided [RCV003482991] | Chr7:144940098..159119707 [GRCh37] Chr7:7q35-36.3 |
pathogenic |
GRCh37/hg19 7q34-36.3(chr7:142099013-159119707)x1 | copy number loss | not provided [RCV003482989] | Chr7:142099013..159119707 [GRCh37] Chr7:7q34-36.3 |
pathogenic |
GRCh37/hg19 7q35-36.1(chr7:144075624-149323060)x1 | copy number loss | not provided [RCV003482990] | Chr7:144075624..149323060 [GRCh37] Chr7:7q35-36.1 |
uncertain significance |
GRCh37/hg19 7q33-36.3(chr7:135639005-159119707)x1 | copy number loss | not provided [RCV003482988] | Chr7:135639005..159119707 [GRCh37] Chr7:7q33-36.3 |
pathogenic |
NM_003592.3(CUL1):c.1627G>A (p.Gly543Arg) | single nucleotide variant | not provided [RCV003423818] | Chr7:148789779 [GRCh38] Chr7:148486871 [GRCh37] Chr7:7q36.1 |
uncertain significance |
GRCh37/hg19 7q33-36.3(chr7:137456457-159119707)x3 | copy number gain | not specified [RCV003986713] | Chr7:137456457..159119707 [GRCh37] Chr7:7q33-36.3 |
pathogenic |
NM_003592.3(CUL1):c.1085A>G (p.Asp362Gly) | single nucleotide variant | not specified [RCV004375234] | Chr7:148783784 [GRCh38] Chr7:148480876 [GRCh37] Chr7:7q36.1 |
uncertain significance |
NM_003592.3(CUL1):c.304A>G (p.Asn102Asp) | single nucleotide variant | not specified [RCV004375235] | Chr7:148754139 [GRCh38] Chr7:148451231 [GRCh37] Chr7:7q36.1 |
uncertain significance |
NM_003592.3(CUL1):c.962G>A (p.Arg321His) | single nucleotide variant | not specified [RCV004375236] | Chr7:148767628 [GRCh38] Chr7:148464720 [GRCh37] Chr7:7q36.1 |
uncertain significance |
GRCh37/hg19 7q34-36.3(chr7:141690279-159119707)x3 | copy number gain | See cases [RCV004442845] | Chr7:141690279..159119707 [GRCh37] Chr7:7q34-36.3 |
pathogenic |
NC_000007.13:g.(?_147259210)_(148544390_?)dup | duplication | Weaver syndrome [RCV004583477] | Chr7:147259210..148544390 [GRCh37] Chr7:7q35-36.1 |
uncertain significance |
NM_003592.3(CUL1):c.745A>G (p.Thr249Ala) | single nucleotide variant | not specified [RCV004616093] | Chr7:148760452 [GRCh38] Chr7:148457544 [GRCh37] Chr7:7q36.1 |
uncertain significance |
The detailed report is available here: | Full Report | CSV | TAB | Printer | ||||
miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/). For more information about miRGate, see PMID:25858286 or access the full paper here. |
The following QTLs overlap with this region. | Full Report | CSV | TAB | Printer | Gviewer |
D7S2419 |
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BCD3347 |
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RH44316 |
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SHGC-79521 |
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G54220 |
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SHGC-151181 |
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SHGC-152293 |
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SHGC-30511 |
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STS-AA028139 |
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RH45747 |
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CUL1_3035 |
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D7S2419 |
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RefSeq Transcripts | NG_065171 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
NM_001370660 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001370661 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001370662 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001370663 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001370664 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_003592 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GenBank Nucleotide | AACC02000041 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
AC005229 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AC006323 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AF062536 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK096163 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK096505 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK296909 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK315023 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC034318 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC125119 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC125120 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BG391038 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BX537409 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CA945052 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CH471146 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CP068271 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
U58087 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
Ensembl Acc Id: | ENST00000325222 ⟹ ENSP00000326804 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000409469 ⟹ ENSP00000387160 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000602748 ⟹ ENSP00000473318 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000617797 ⟹ ENSP00000482123 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000655324 ⟹ ENSP00000499675 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000656001 ⟹ ENSP00000499287 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000660013 ⟹ ENSP00000499325 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000660240 ⟹ ENSP00000499358 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000662132 ⟹ ENSP00000499276 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000662670 ⟹ ENSP00000499321 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000662716 ⟹ ENSP00000499277 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000662975 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000663044 ⟹ ENSP00000499398 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000663835 ⟹ ENSP00000499525 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000665936 ⟹ ENSP00000499255 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000666124 ⟹ ENSP00000499244 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000671397 ⟹ ENSP00000499516 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000671421 ⟹ ENSP00000499303 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | NM_001370660 ⟹ NP_001357589 | ||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
|
||||||||||||
Sequence: |
RefSeq Acc Id: | NM_001370661 ⟹ NP_001357590 | ||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
|
||||||||||||
Sequence: |
RefSeq Acc Id: | NM_001370662 ⟹ NP_001357591 | ||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
|
||||||||||||
Sequence: |
RefSeq Acc Id: | NM_001370663 ⟹ NP_001357592 | ||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
|
||||||||||||
Sequence: |
RefSeq Acc Id: | NM_001370664 ⟹ NP_001357593 | ||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
|
||||||||||||
Sequence: |
RefSeq Acc Id: | NM_003592 ⟹ NP_003583 | ||||||||||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||||||
Position: |
|
||||||||||||||||||||||||||||||||
Sequence: |
Protein RefSeqs | NP_001357589 | (Get FASTA) | NCBI Sequence Viewer |
NP_001357590 | (Get FASTA) | NCBI Sequence Viewer | |
NP_001357591 | (Get FASTA) | NCBI Sequence Viewer | |
NP_001357592 | (Get FASTA) | NCBI Sequence Viewer | |
NP_001357593 | (Get FASTA) | NCBI Sequence Viewer | |
NP_003583 | (Get FASTA) | NCBI Sequence Viewer | |
GenBank Protein | AAC36681 | (Get FASTA) | NCBI Sequence Viewer |
AAC50544 | (Get FASTA) | NCBI Sequence Viewer | |
AAI25120 | (Get FASTA) | NCBI Sequence Viewer | |
AAI25121 | (Get FASTA) | NCBI Sequence Viewer | |
AAM49153 | (Get FASTA) | NCBI Sequence Viewer | |
AAS02034 | (Get FASTA) | NCBI Sequence Viewer | |
BAG53222 | (Get FASTA) | NCBI Sequence Viewer | |
BAG53307 | (Get FASTA) | NCBI Sequence Viewer | |
BAG59465 | (Get FASTA) | NCBI Sequence Viewer | |
CAD97651 | (Get FASTA) | NCBI Sequence Viewer | |
EAL24422 | (Get FASTA) | NCBI Sequence Viewer | |
EAW80072 | (Get FASTA) | NCBI Sequence Viewer | |
EAW80073 | (Get FASTA) | NCBI Sequence Viewer | |
EAW80074 | (Get FASTA) | NCBI Sequence Viewer | |
Ensembl Protein | ENSP00000326804 | ||
ENSP00000326804.3 | |||
ENSP00000387160.1 | |||
ENSP00000473318 | |||
ENSP00000473318.1 | |||
ENSP00000499244.1 | |||
ENSP00000499255 | |||
ENSP00000499255.1 | |||
ENSP00000499276.1 | |||
ENSP00000499277 | |||
ENSP00000499277.1 | |||
ENSP00000499287.1 | |||
ENSP00000499303.1 | |||
ENSP00000499321.1 | |||
ENSP00000499325.1 | |||
ENSP00000499358.1 | |||
ENSP00000499398 | |||
ENSP00000499398.1 | |||
ENSP00000499516.1 | |||
ENSP00000499525.1 | |||
ENSP00000499675.1 | |||
GenBank Protein | Q13616 | (Get FASTA) | NCBI Sequence Viewer |
RefSeq Acc Id: | NP_003583 ⟸ NM_003592 |
- UniProtKB: | Q08AL6 (UniProtKB/Swiss-Prot), O60719 (UniProtKB/Swiss-Prot), D3DWG3 (UniProtKB/Swiss-Prot), Q8IYW1 (UniProtKB/Swiss-Prot), Q13616 (UniProtKB/Swiss-Prot), A0A090N7U0 (UniProtKB/TrEMBL), A0A590UJ21 (UniProtKB/TrEMBL), A0A590UJR3 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | NP_001357589 ⟸ NM_001370660 |
- UniProtKB: | Q13616 (UniProtKB/Swiss-Prot), Q08AL6 (UniProtKB/Swiss-Prot), O60719 (UniProtKB/Swiss-Prot), D3DWG3 (UniProtKB/Swiss-Prot), Q8IYW1 (UniProtKB/Swiss-Prot), A0A090N7U0 (UniProtKB/TrEMBL), A0A590UJ21 (UniProtKB/TrEMBL), A0A590UJR3 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | NP_001357590 ⟸ NM_001370661 |
- UniProtKB: | Q13616 (UniProtKB/Swiss-Prot), Q08AL6 (UniProtKB/Swiss-Prot), O60719 (UniProtKB/Swiss-Prot), D3DWG3 (UniProtKB/Swiss-Prot), Q8IYW1 (UniProtKB/Swiss-Prot), A0A090N7U0 (UniProtKB/TrEMBL), A0A590UJ21 (UniProtKB/TrEMBL), A0A590UJR3 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | NP_001357591 ⟸ NM_001370662 |
- UniProtKB: | Q13616 (UniProtKB/Swiss-Prot), Q08AL6 (UniProtKB/Swiss-Prot), O60719 (UniProtKB/Swiss-Prot), D3DWG3 (UniProtKB/Swiss-Prot), Q8IYW1 (UniProtKB/Swiss-Prot), A0A090N7U0 (UniProtKB/TrEMBL), A0A590UJ21 (UniProtKB/TrEMBL), A0A590UJR3 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | NP_001357592 ⟸ NM_001370663 |
- UniProtKB: | Q13616 (UniProtKB/Swiss-Prot), Q08AL6 (UniProtKB/Swiss-Prot), O60719 (UniProtKB/Swiss-Prot), D3DWG3 (UniProtKB/Swiss-Prot), Q8IYW1 (UniProtKB/Swiss-Prot), A0A090N7U0 (UniProtKB/TrEMBL), A0A590UJ21 (UniProtKB/TrEMBL), A0A590UJR3 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | NP_001357593 ⟸ NM_001370664 |
- UniProtKB: | Q13616 (UniProtKB/Swiss-Prot), Q08AL6 (UniProtKB/Swiss-Prot), O60719 (UniProtKB/Swiss-Prot), D3DWG3 (UniProtKB/Swiss-Prot), Q8IYW1 (UniProtKB/Swiss-Prot), A0A090N7U0 (UniProtKB/TrEMBL), A0A590UJ21 (UniProtKB/TrEMBL), A0A590UJR3 (UniProtKB/TrEMBL) |
Ensembl Acc Id: | ENSP00000499358 ⟸ ENST00000660240 |
Ensembl Acc Id: | ENSP00000499325 ⟸ ENST00000660013 |
Ensembl Acc Id: | ENSP00000499276 ⟸ ENST00000662132 |
Ensembl Acc Id: | ENSP00000499277 ⟸ ENST00000662716 |
Ensembl Acc Id: | ENSP00000499321 ⟸ ENST00000662670 |
Ensembl Acc Id: | ENSP00000499525 ⟸ ENST00000663835 |
Ensembl Acc Id: | ENSP00000499398 ⟸ ENST00000663044 |
Ensembl Acc Id: | ENSP00000499255 ⟸ ENST00000665936 |
Ensembl Acc Id: | ENSP00000499244 ⟸ ENST00000666124 |
Ensembl Acc Id: | ENSP00000326804 ⟸ ENST00000325222 |
Ensembl Acc Id: | ENSP00000499675 ⟸ ENST00000655324 |
Ensembl Acc Id: | ENSP00000473318 ⟸ ENST00000602748 |
Ensembl Acc Id: | ENSP00000499287 ⟸ ENST00000656001 |
Ensembl Acc Id: | ENSP00000482123 ⟸ ENST00000617797 |
Ensembl Acc Id: | ENSP00000387160 ⟸ ENST00000409469 |
Ensembl Acc Id: | ENSP00000499303 ⟸ ENST00000671421 |
Ensembl Acc Id: | ENSP00000499516 ⟸ ENST00000671397 |
Name | Modeler | Protein Id | AA Range | Protein Structure |
AF-Q13616-F1-model_v2 | AlphaFold | Q13616 | 1-776 | view protein structure |
RGD ID: | 6805417 | ||||||||
Promoter ID: | HG_KWN:60188 | ||||||||
Type: | CpG-Island | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | MPROMDB | ||||||||
Tissues & Cell Lines: | CD4+TCell, HeLa_S3, Jurkat, K562, Lymphoblastoid | ||||||||
Transcripts: | NM_003592 | ||||||||
Position: |
|
RGD ID: | 6852326 | ||||||||
Promoter ID: | EP73970 | ||||||||
Type: | single initiation site | ||||||||
Name: | HS_CUL1 | ||||||||
Description: | Cullin 1. | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Experiment Methods: | Mammalian gene collection (MGC) full-length cDNA cloning | ||||||||
Position: |
|
RGD ID: | 6805418 | ||||||||
Promoter ID: | HG_KWN:60190 | ||||||||
Type: | CpG-Island | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | MPROMDB | ||||||||
Tissues & Cell Lines: | Lymphoblastoid | ||||||||
Transcripts: | UC003WFA.1 | ||||||||
Position: |
|
RGD ID: | 7212207 | ||||||||
Promoter ID: | EPDNEW_H11849 | ||||||||
Type: | initiation region | ||||||||
Name: | CUL1_1 | ||||||||
Description: | cullin 1 | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Alternative Promoters: | null; see alsoEPDNEW_H11850 | ||||||||
Experiment Methods: | Single-end sequencing. | ||||||||
Position: |
|
RGD ID: | 7212209 | ||||||||
Promoter ID: | EPDNEW_H11850 | ||||||||
Type: | initiation region | ||||||||
Name: | CUL1_2 | ||||||||
Description: | cullin 1 | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Alternative Promoters: | null; see alsoEPDNEW_H11849 | ||||||||
Experiment Methods: | Single-end sequencing. | ||||||||
Position: |
|
Database | Acc Id | Source(s) |
AGR Gene | HGNC:2551 | AgrOrtholog |
COSMIC | CUL1 | COSMIC |
Ensembl Genes | ENSG00000055130 | Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Ensembl Transcript | ENST00000325222 | ENTREZGENE |
ENST00000325222.9 | UniProtKB/Swiss-Prot | |
ENST00000409469.5 | UniProtKB/Swiss-Prot | |
ENST00000602748 | ENTREZGENE | |
ENST00000602748.5 | UniProtKB/Swiss-Prot | |
ENST00000655324.1 | UniProtKB/TrEMBL | |
ENST00000656001.1 | UniProtKB/TrEMBL | |
ENST00000660013.1 | UniProtKB/TrEMBL | |
ENST00000660240.1 | UniProtKB/TrEMBL | |
ENST00000662132.1 | UniProtKB/TrEMBL | |
ENST00000662670.1 | UniProtKB/TrEMBL | |
ENST00000662716 | ENTREZGENE | |
ENST00000662716.1 | UniProtKB/Swiss-Prot | |
ENST00000663044 | ENTREZGENE | |
ENST00000663044.1 | UniProtKB/Swiss-Prot | |
ENST00000663835.1 | UniProtKB/TrEMBL | |
ENST00000665936 | ENTREZGENE | |
ENST00000665936.1 | UniProtKB/Swiss-Prot | |
ENST00000666124.1 | UniProtKB/TrEMBL | |
ENST00000671397.1 | UniProtKB/TrEMBL | |
ENST00000671421.1 | UniProtKB/TrEMBL | |
Gene3D-CATH | 1.10.10.10 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Cullin Repeats | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
GTEx | ENSG00000055130 | GTEx |
HGNC ID | HGNC:2551 | ENTREZGENE |
Human Proteome Map | CUL1 | Human Proteome Map |
InterPro | Cullin | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Cullin_CS | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Cullin_homology | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Cullin_homology_sf | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Cullin_N | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Cullin_neddylation_domain | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Cullin_repeat-like_dom_sf | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
WH-like_DNA-bd_sf | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
WH_DNA-bd_sf | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
KEGG Report | hsa:8454 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
NCBI Gene | 8454 | ENTREZGENE |
OMIM | 603134 | OMIM |
PANTHER | CULLIN-1 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
PTHR11932 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Pfam | Cullin | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Cullin_Nedd8 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
PharmGKB | PA27047 | PharmGKB |
PROSITE | CULLIN_1 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
CULLIN_2 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
SMART | CULLIN | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Cullin_Nedd8 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Superfamily-SCOP | SSF46785 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
SSF74788 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
SSF75632 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
UniProt | A0A090N7U0 | ENTREZGENE, UniProtKB/TrEMBL |
A0A590UJ21 | ENTREZGENE, UniProtKB/TrEMBL | |
A0A590UJ50_HUMAN | UniProtKB/TrEMBL | |
A0A590UJ56_HUMAN | UniProtKB/TrEMBL | |
A0A590UJ59_HUMAN | UniProtKB/TrEMBL | |
A0A590UJ97_HUMAN | UniProtKB/TrEMBL | |
A0A590UJA0_HUMAN | UniProtKB/TrEMBL | |
A0A590UJC4_HUMAN | UniProtKB/TrEMBL | |
A0A590UJM8_HUMAN | UniProtKB/TrEMBL | |
A0A590UJR3 | ENTREZGENE, UniProtKB/TrEMBL | |
A0A590UK34_HUMAN | UniProtKB/TrEMBL | |
B3KTW0_HUMAN | UniProtKB/TrEMBL | |
CUL1_HUMAN | UniProtKB/Swiss-Prot | |
D3DWG3 | ENTREZGENE | |
O60719 | ENTREZGENE | |
Q08AL6 | ENTREZGENE | |
Q13616 | ENTREZGENE | |
Q75MQ1_HUMAN | UniProtKB/TrEMBL | |
Q8IYW1 | ENTREZGENE | |
UniProt Secondary | D3DWG3 | UniProtKB/Swiss-Prot |
O60719 | UniProtKB/Swiss-Prot | |
Q08AL6 | UniProtKB/Swiss-Prot | |
Q8IYW1 | UniProtKB/Swiss-Prot |