CUL1 (cullin 1) - Rat Genome Database

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Gene: CUL1 (cullin 1) Homo sapiens
Analyze
Symbol: CUL1
Name: cullin 1
RGD ID: 1317768
HGNC Page HGNC:2551
Description: Enables ubiquitin ligase complex scaffold activity and ubiquitin protein ligase binding activity. Involved in SCF-dependent proteasomal ubiquitin-dependent protein catabolic process; positive regulation of canonical NF-kappaB signal transduction; and protein K48-linked ubiquitination. Located in plasma membrane. Part of Parkin-FBXW7-Cul1 ubiquitin ligase complex and SCF ubiquitin ligase complex.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: CUL-1; cullin-1; MGC149834; MGC149835
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Related Pseudogenes: CUL1P1  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh387148,697,756 - 148,801,110 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl7148,697,914 - 148,801,110 (+)EnsemblGRCh38hg38GRCh38
GRCh377148,394,848 - 148,498,202 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 367148,026,866 - 148,129,135 (+)NCBINCBI36Build 36hg18NCBI36
Build 347147,833,580 - 147,935,849NCBI
Celera7143,066,358 - 143,168,625 (+)NCBICelera
Cytogenetic Map7q36.1NCBI
HuRef7142,474,925 - 142,577,198 (+)NCBIHuRef
CHM1_17148,404,339 - 148,506,599 (+)NCBICHM1_1
T2T-CHM13v2.07149,879,652 - 149,982,884 (+)NCBIT2T-CHM13v2.0
CRA_TCAGchr7v27147,733,888 - 147,836,155 (+)NCBI
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
References

References - curated
# 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
Additional References at PubMed
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  
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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  
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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  
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PMID:24076655   PMID:24082123   PMID:24085301   PMID:24157836   PMID:24192928   PMID:24211582   PMID:24269809   PMID:24318128   PMID:24332808   PMID:24349473   PMID:24390425   PMID:24457600  
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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  
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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  


Genomics

Comparative Map Data
CUL1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh387148,697,756 - 148,801,110 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl7148,697,914 - 148,801,110 (+)EnsemblGRCh38hg38GRCh38
GRCh377148,394,848 - 148,498,202 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 367148,026,866 - 148,129,135 (+)NCBINCBI36Build 36hg18NCBI36
Build 347147,833,580 - 147,935,849NCBI
Celera7143,066,358 - 143,168,625 (+)NCBICelera
Cytogenetic Map7q36.1NCBI
HuRef7142,474,925 - 142,577,198 (+)NCBIHuRef
CHM1_17148,404,339 - 148,506,599 (+)NCBICHM1_1
T2T-CHM13v2.07149,879,652 - 149,982,884 (+)NCBIT2T-CHM13v2.0
CRA_TCAGchr7v27147,733,888 - 147,836,155 (+)NCBI
Cul1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39647,430,516 - 47,503,078 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl647,430,332 - 47,503,073 (+)EnsemblGRCm39 Ensembl
GRCm38647,453,732 - 47,526,144 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl647,453,398 - 47,526,139 (+)EnsemblGRCm38mm10GRCm38
MGSCv37647,404,323 - 47,476,138 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36647,383,910 - 47,455,725 (+)NCBIMGSCv36mm8
Celera647,309,280 - 47,381,243 (+)NCBICelera
Cytogenetic Map6B2.3NCBI
cM Map622.9NCBI
Cul1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8477,551,781 - 77,634,210 (+)NCBIGRCr8
mRatBN7.2476,551,952 - 76,625,830 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl476,551,983 - 76,627,980 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx481,518,199 - 81,586,396 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0477,431,538 - 77,499,741 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0475,811,714 - 75,879,914 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0477,211,814 - 77,283,369 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl477,211,692 - 77,280,250 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.04141,883,675 - 141,954,829 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4475,636,914 - 75,705,724 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1475,913,432 - 75,981,935 (+)NCBI
Celera471,356,492 - 71,424,907 (+)NCBICelera
Cytogenetic Map4q24NCBI
Cul1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554914,165,561 - 4,212,054 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554914,165,400 - 4,212,483 (+)NCBIChiLan1.0ChiLan1.0
CUL1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v26185,284,645 - 185,386,756 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1737,293,911 - 37,397,018 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v07140,428,442 - 140,531,136 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.17152,907,803 - 153,011,254 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl7152,908,303 - 153,011,254 (+)Ensemblpanpan1.1panPan2
CUL1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1161,995,637 - 2,086,853 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl161,995,960 - 2,052,864 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha163,094,500 - 3,190,996 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0161,800,318 - 1,893,359 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl161,800,261 - 1,893,706 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1161,786,922 - 1,879,856 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0161,646,255 - 1,739,205 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0161,650,453 - 1,743,455 (-)NCBIUU_Cfam_GSD_1.0
Cul1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_0244051187,883,967 - 7,967,988 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365274,971,000 - 5,019,562 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365274,971,002 - 5,019,465 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
CUL1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl9109,454,534 - 109,557,649 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.19109,454,523 - 109,559,114 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.29120,392,339 - 120,495,724 (-)NCBISscrofa10.2Sscrofa10.2susScr3
CUL1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.121117,271,477 - 117,373,983 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl21117,271,548 - 117,374,379 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366607213,218,021 - 13,323,070 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Cul1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046248006,877,986 - 6,978,587 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in CUL1
11 total Variants

Clinical 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
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:479
Count of miRNA genes:242
Interacting mature miRNAs:245
Transcripts:ENST00000325222, ENST00000409469, ENST00000602748
Prediction methods:Microtar, Miranda, Rnahybrid
Result types:miRGate_prediction

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.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
407012482GWAS661458_Hmean corpuscular hemoglobin QTL GWAS661458 (human)1e-15mean corpuscular hemoglobinmean corpuscular hemoglobin (CMO:0000290)7148749285148749286Human
407291974GWAS940950_Hbody height QTL GWAS940950 (human)2e-10body height (VT:0001253)body height (CMO:0000106)7148783898148783899Human
407017027GWAS666003_Hmean corpuscular volume QTL GWAS666003 (human)3e-20mean corpuscular volumemean corpuscular volume (CMO:0000038)7148751832148751833Human
1559263SCL72_HSerum cholesterol level QTL 72 (human)3.25Lipid leveltriglyceride7141776251159345973Human
406990671GWAS639647_Hmean corpuscular volume QTL GWAS639647 (human)3e-19mean corpuscular volumemean corpuscular volume (CMO:0000038)7148749285148749286Human
1559237SCL70_HSerum cholesterol level QTL 70 (human)3.520.002Lipid leveltriglyceride7141776251159345973Human
406897686GWAS546662_Hsusceptibility to mononucleosis measurement QTL GWAS546662 (human)0.000008susceptibility to mononucleosis measurement7148725247148725248Human
1559232SCL66_HSerum cholesterol level QTL 66 (human)2.980.002Lipid leveltriglyceride7141776251159345973Human
406999573GWAS648549_HCrohn's disease QTL GWAS648549 (human)0.0000006Crohn's disease7148738247148738248Human
407254431GWAS903407_Hinflammatory bowel disease QTL GWAS903407 (human)3e-11inflammatory bowel disease7148742273148742274Human
406995416GWAS644392_Hmean corpuscular hemoglobin concentration QTL GWAS644392 (human)8e-16mean corpuscular hemoglobin concentrationmean corpuscular hemoglobin concentration (CMO:0000291)7148749285148749286Human
1559221SCL67_HSerum cholesterol level QTL 67 (human)2.980.002Lipid leveltriglyceride7141776251159345973Human
1578618SCL127_HSerum cholesterol level QTL 127 (human)3.7Lipid leveltriglyceride7141776251159345973Human
407305700GWAS954676_Htype 2 diabetes mellitus QTL GWAS954676 (human)5e-08type 2 diabetes mellitus7148732714148732715Human
407339621GWAS988597_Hmean corpuscular hemoglobin QTL GWAS988597 (human)3e-13mean corpuscular hemoglobinmean corpuscular hemoglobin (CMO:0000290)7148749285148749286Human
1559218SCL69_HSerum cholesterol level QTL 69 (human)3.410.002Lipid leveltriglyceride7141776251159345973Human
407310882GWAS959858_Hsmoking initiation QTL GWAS959858 (human)2e-12smoking initiation7148791152148791153Human
1578610SCL128_HSerum cholesterol level QTL 128 (human)2.2Lipid levelLDL cholesterol7141776251159345973Human
406988204GWAS637180_Hmean corpuscular hemoglobin concentration QTL GWAS637180 (human)2e-15mean corpuscular hemoglobin concentrationmean corpuscular hemoglobin concentration (CMO:0000291)7148750658148750659Human
406998449GWAS647425_Hmean corpuscular volume QTL GWAS647425 (human)2e-22mean corpuscular volumemean corpuscular volume (CMO:0000038)7148750658148750659Human
406969077GWAS618053_Hinflammatory bowel disease QTL GWAS618053 (human)3e-10inflammatory bowel disease7148738247148738248Human
1559264SCL68_HSerum cholesterol level QTL 68 (human)3.10.002Lipid leveltriglyceride7141776251159345973Human
407200765GWAS849741_Hmean corpuscular volume QTL GWAS849741 (human)6e-11mean corpuscular volumemean corpuscular volume (CMO:0000038)7148749285148749286Human
1559213SCL71_HSerum cholesterol level QTL 71 (human)3.46Lipid leveltriglyceride7141776251159345973Human
407336187GWAS985163_Hmean corpuscular volume QTL GWAS985163 (human)4e-17mean corpuscular volumemean corpuscular volume (CMO:0000038)7148751832148751833Human

Markers in Region
D7S2419  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377148,422,194 - 148,422,373UniSTSGRCh37
GRCh377148,422,059 - 148,422,230UniSTSGRCh37
Build 367148,053,127 - 148,053,306RGDNCBI36
Celera7143,092,484 - 143,092,655UniSTS
Celera7143,092,619 - 143,092,798RGD
Cytogenetic Map7q36.1UniSTS
HuRef7142,501,186 - 142,501,365UniSTS
HuRef7142,501,051 - 142,501,222UniSTS
CRA_TCAGchr7v27147,760,149 - 147,760,328UniSTS
CRA_TCAGchr7v27147,760,014 - 147,760,185UniSTS
Marshfield Genetic Map7159.53RGD
Genethon Genetic Map7163.4UniSTS
BCD3347  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377148,498,014 - 148,498,134UniSTSGRCh37
Build 367148,128,947 - 148,129,067RGDNCBI36
Celera7143,168,437 - 143,168,557RGD
Cytogenetic Map7q36.1UniSTS
HuRef7142,577,010 - 142,577,130UniSTS
CRA_TCAGchr7v27147,835,967 - 147,836,087UniSTS
GeneMap99-GB4 RH Map7697.14UniSTS
RH44316  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377148,497,942 - 148,498,131UniSTSGRCh37
Build 367148,128,875 - 148,129,064RGDNCBI36
Celera7143,168,365 - 143,168,554RGD
Cytogenetic Map7q36.1UniSTS
HuRef7142,576,938 - 142,577,127UniSTS
CRA_TCAGchr7v27147,835,895 - 147,836,084UniSTS
SHGC-79521  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377148,450,087 - 148,450,420UniSTSGRCh37
Build 367148,081,020 - 148,081,353RGDNCBI36
Celera7143,120,513 - 143,120,846RGD
Cytogenetic Map7q36.1UniSTS
HuRef7142,529,080 - 142,529,413UniSTS
CRA_TCAGchr7v27147,788,043 - 147,788,376UniSTS
TNG Radiation Hybrid Map766586.0UniSTS
G54220  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375127,121,589 - 127,121,797UniSTSGRCh37
Build 365127,149,488 - 127,149,696RGDNCBI36
Celera5123,252,320 - 123,252,528RGD
Cytogenetic Map5q23.2UniSTS
Cytogenetic Map7q36.1UniSTS
HuRef5122,313,044 - 122,313,252UniSTS
SHGC-151181  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377148,422,095 - 148,422,387UniSTSGRCh37
Build 367148,053,028 - 148,053,320RGDNCBI36
Celera7143,092,520 - 143,092,812RGD
Cytogenetic Map7q36.1UniSTS
HuRef7142,501,087 - 142,501,379UniSTS
CRA_TCAGchr7v27147,760,050 - 147,760,342UniSTS
TNG Radiation Hybrid Map766594.0UniSTS
TNG Radiation Hybrid Map1522910.0UniSTS
SHGC-152293  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377148,422,056 - 148,422,337UniSTSGRCh37
Build 367148,052,989 - 148,053,270RGDNCBI36
Celera7143,092,481 - 143,092,762RGD
Cytogenetic Map7q36.1UniSTS
HuRef7142,501,048 - 142,501,329UniSTS
CRA_TCAGchr7v27147,760,011 - 147,760,292UniSTS
TNG Radiation Hybrid Map138119.0UniSTS
SHGC-30511  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377148,494,360 - 148,494,486UniSTSGRCh37
Build 367148,125,293 - 148,125,419RGDNCBI36
Celera7143,164,782 - 143,164,908RGD
Cytogenetic Map7q36.1UniSTS
HuRef7142,573,356 - 142,573,482UniSTS
CRA_TCAGchr7v27147,832,312 - 147,832,438UniSTS
TNG Radiation Hybrid Map766511.0UniSTS
GeneMap99-GB4 RH Map7675.32UniSTS
Whitehead-RH Map7645.8UniSTS
GeneMap99-G3 RH Map78185.0UniSTS
STS-AA028139  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377148,472,802 - 148,472,933UniSTSGRCh37
Build 367148,103,735 - 148,103,866RGDNCBI36
Celera7143,143,224 - 143,143,355RGD
Cytogenetic Map7q36.1UniSTS
HuRef7142,551,789 - 142,551,920UniSTS
CRA_TCAGchr7v27147,810,754 - 147,810,885UniSTS
GeneMap99-GB4 RH Map7673.9UniSTS
NCBI RH Map71509.5UniSTS
RH45747  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377148,497,891 - 148,498,044UniSTSGRCh37
Build 367148,128,824 - 148,128,977RGDNCBI36
Celera7143,168,314 - 143,168,467RGD
Cytogenetic Map7q36.1UniSTS
HuRef7142,576,887 - 142,577,040UniSTS
CRA_TCAGchr7v27147,835,844 - 147,835,997UniSTS
GeneMap99-GB4 RH Map7675.32UniSTS
CUL1_3035  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377148,497,645 - 148,498,257UniSTSGRCh37
Build 367148,128,578 - 148,129,190RGDNCBI36
Celera7143,168,068 - 143,168,680RGD
HuRef7142,576,641 - 142,577,253UniSTS
CRA_TCAGchr7v27147,835,598 - 147,836,210UniSTS
D7S2419  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map7q36.1UniSTS
Marshfield Genetic Map7159.53UniSTS
Genethon Genetic Map7163.4UniSTS


Sequence

Nucleotide Sequences
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:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7148,698,903 - 148,801,110 (+)Ensembl
Ensembl Acc Id: ENST00000409469   ⟹   ENSP00000387160
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7148,697,914 - 148,800,582 (+)Ensembl
Ensembl Acc Id: ENST00000602748   ⟹   ENSP00000473318
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7148,698,645 - 148,801,025 (+)Ensembl
Ensembl Acc Id: ENST00000617797   ⟹   ENSP00000482123
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7148,729,999 - 148,800,707 (+)Ensembl
Ensembl Acc Id: ENST00000655324   ⟹   ENSP00000499675
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7148,698,866 - 148,800,981 (+)Ensembl
Ensembl Acc Id: ENST00000656001   ⟹   ENSP00000499287
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7148,698,903 - 148,801,086 (+)Ensembl
Ensembl Acc Id: ENST00000660013   ⟹   ENSP00000499325
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7148,730,179 - 148,783,984 (+)Ensembl
Ensembl Acc Id: ENST00000660240   ⟹   ENSP00000499358
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7148,698,965 - 148,800,969 (+)Ensembl
Ensembl Acc Id: ENST00000662132   ⟹   ENSP00000499276
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7148,698,897 - 148,801,088 (+)Ensembl
Ensembl Acc Id: ENST00000662670   ⟹   ENSP00000499321
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7148,698,923 - 148,801,024 (+)Ensembl
Ensembl Acc Id: ENST00000662716   ⟹   ENSP00000499277
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7148,698,072 - 148,800,988 (+)Ensembl
Ensembl Acc Id: ENST00000662975
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7148,700,007 - 148,760,484 (+)Ensembl
Ensembl Acc Id: ENST00000663044   ⟹   ENSP00000499398
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7148,698,593 - 148,801,024 (+)Ensembl
Ensembl Acc Id: ENST00000663835   ⟹   ENSP00000499525
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7148,698,857 - 148,801,087 (+)Ensembl
Ensembl Acc Id: ENST00000665936   ⟹   ENSP00000499255
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7148,698,517 - 148,801,004 (+)Ensembl
Ensembl Acc Id: ENST00000666124   ⟹   ENSP00000499244
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7148,698,903 - 148,801,013 (+)Ensembl
Ensembl Acc Id: ENST00000671397   ⟹   ENSP00000499516
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7148,698,907 - 148,801,019 (+)Ensembl
Ensembl Acc Id: ENST00000671421   ⟹   ENSP00000499303
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7148,698,903 - 148,800,974 (+)Ensembl
RefSeq Acc Id: NM_001370660   ⟹   NP_001357589
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387148,697,756 - 148,801,110 (+)NCBI
T2T-CHM13v2.07149,879,652 - 149,982,884 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001370661   ⟹   NP_001357590
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387148,698,363 - 148,801,110 (+)NCBI
T2T-CHM13v2.07149,880,259 - 149,982,884 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001370662   ⟹   NP_001357591
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387148,698,645 - 148,801,110 (+)NCBI
T2T-CHM13v2.07149,880,541 - 149,982,884 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001370663   ⟹   NP_001357592
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387148,698,645 - 148,801,110 (+)NCBI
T2T-CHM13v2.07149,880,541 - 149,982,884 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001370664   ⟹   NP_001357593
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387148,699,710 - 148,801,110 (+)NCBI
T2T-CHM13v2.07149,881,606 - 149,982,884 (+)NCBI
Sequence:
RefSeq Acc Id: NM_003592   ⟹   NP_003583
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387148,698,903 - 148,801,110 (+)NCBI
GRCh377148,395,631 - 148,498,202 (+)NCBI
Build 367148,026,866 - 148,129,135 (+)NCBI Archive
HuRef7142,474,925 - 142,577,198 (+)ENTREZGENE
CHM1_17148,404,339 - 148,506,599 (+)NCBI
T2T-CHM13v2.07149,880,799 - 149,982,884 (+)NCBI
CRA_TCAGchr7v27147,733,888 - 147,836,155 (+)ENTREZGENE
Sequence:
Protein Sequences
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
Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q13616-F1-model_v2 AlphaFold Q13616 1-776 view protein structure

Promoters
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:
Human AssemblyChrPosition (strand)Source
Build 367148,026,679 - 148,027,179 (+)MPROMDB
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:
Human AssemblyChrPosition (strand)Source
Build 367148,057,986 - 148,058,046EPD
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:
Human AssemblyChrPosition (strand)Source
Build 367148,110,851 - 148,111,351 (+)MPROMDB
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:
Human AssemblyChrPosition (strand)Source
GRCh387148,698,903 - 148,698,963EPDNEW
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:
Human AssemblyChrPosition (strand)Source
GRCh387148,729,961 - 148,730,021EPDNEW

Additional Information

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