UBE2QL1 (ubiquitin conjugating enzyme E2 QL1) - Rat Genome Database

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Gene: UBE2QL1 (ubiquitin conjugating enzyme E2 QL1) Homo sapiens
Analyze
Symbol: UBE2QL1
Name: ubiquitin conjugating enzyme E2 QL1
RGD ID: 2798685
HGNC Page HGNC:37269
Description: Enables ubiquitin conjugating enzyme activity. Predicted to be involved in protein polyubiquitination. Located in nucleoplasm and plasma membrane.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: E2Q-like ubiquitin-conjugating enzyme 1; FLJ25076; FLJ39293; ubiquitin conjugating enzyme E2 Q family like 1; ubiquitin conjugating enzyme E2Q family like 1; ubiquitin conjugating enzyme E2Q family-like 1; ubiquitin-conjugating enzyme E2Q family-like 1; ubiquitin-conjugating enzyme E2Q-like protein 1
RGD Orthologs
Mouse
Rat
Bonobo
Dog
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3856,448,859 - 6,496,723 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl56,448,859 - 6,496,723 (+)EnsemblGRCh38hg38GRCh38
GRCh3756,448,972 - 6,496,836 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3656,490,460 - 6,548,029 (+)NCBINCBI36Build 36hg18NCBI36
Celera56,476,425 - 6,520,375 (+)NCBICelera
Cytogenetic Map5p15.31NCBI
HuRef56,466,054 - 6,471,560 (+)NCBIHuRef
CHM1_156,448,829 - 6,496,771 (+)NCBICHM1_1
T2T-CHM13v2.056,379,225 - 6,427,083 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component
nucleoplasm  (IDA)
nucleus  (IBA,IDA,IEA)
plasma membrane  (IDA)

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
2. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
3. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:8889548   PMID:12477932   PMID:14702039   PMID:21873635   PMID:24000165   PMID:31432621   PMID:31679434   PMID:37071682  


Genomics

Comparative Map Data
UBE2QL1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3856,448,859 - 6,496,723 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl56,448,859 - 6,496,723 (+)EnsemblGRCh38hg38GRCh38
GRCh3756,448,972 - 6,496,836 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3656,490,460 - 6,548,029 (+)NCBINCBI36Build 36hg18NCBI36
Celera56,476,425 - 6,520,375 (+)NCBICelera
Cytogenetic Map5p15.31NCBI
HuRef56,466,054 - 6,471,560 (+)NCBIHuRef
CHM1_156,448,829 - 6,496,771 (+)NCBICHM1_1
T2T-CHM13v2.056,379,225 - 6,427,083 (+)NCBIT2T-CHM13v2.0
Ube2ql1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391369,850,951 - 69,888,016 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1369,850,951 - 69,888,008 (-)EnsemblGRCm39 Ensembl
GRCm381369,702,832 - 69,739,897 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1369,702,832 - 69,739,889 (-)EnsemblGRCm38mm10GRCm38
MGSCv371369,841,710 - 69,878,775 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361370,170,200 - 70,206,712 (-)NCBIMGSCv36mm8
Celera1372,047,268 - 72,084,442 (-)NCBICelera
Cytogenetic Map13B3- C1NCBI
cM Map1335.55NCBI
Ube2ql1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8135,377,264 - 35,417,624 (+)NCBIGRCr8
mRatBN7.2133,548,814 - 33,589,174 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl133,548,814 - 33,589,174 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx133,384,207 - 33,424,713 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0139,382,811 - 39,423,319 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0133,577,000 - 33,617,360 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0136,185,916 - 36,226,276 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl136,185,916 - 36,226,276 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0137,582,312 - 37,622,672 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4173,700,392 - 3,740,804 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera132,158,184 - 32,198,529 (+)NCBICelera
Cytogenetic Map1p11NCBI
UBE2QL1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v246,699,965 - 6,744,078 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan154,853,572 - 4,897,685 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v056,772,764 - 6,817,062 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
UBE2QL1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1347,237,350 - 7,277,847 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl347,238,561 - 7,277,853 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha3411,747,421 - 11,788,422 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0347,147,582 - 7,188,609 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl347,147,810 - 7,189,186 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1347,194,330 - 7,235,522 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0347,174,627 - 7,215,642 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0347,387,934 - 7,428,940 (-)NCBIUU_Cfam_GSD_1.0
UBE2QL1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1675,428,276 - 75,474,044 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11675,428,272 - 75,474,506 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21681,787,687 - 81,834,321 (-)NCBISscrofa10.2Sscrofa10.2susScr3
UBE2QL1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.146,136,142 - 6,179,292 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl46,136,037 - 6,178,048 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366606422,539,053 - 22,581,233 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Ube2ql1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247514,193,962 - 4,232,309 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247514,193,968 - 4,228,468 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in UBE2QL1
4 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 5p15.33-15.1(chr5:49978-15678451)x1 copy number loss See cases [RCV000050295] Chr5:49978..15678451 [GRCh38]
Chr5:50093..15678560 [GRCh37]
Chr5:103093..15731560 [NCBI36]
Chr5:5p15.33-15.1		 pathogenic
GRCh38/hg38 5p15.33-12(chr5:54839-45649861)x3 copy number gain See cases [RCV000051810] Chr5:54839..45649861 [GRCh38]
Chr5:54954..45649963 [GRCh37]
Chr5:107954..45685720 [NCBI36]
Chr5:5p15.33-12		 pathogenic
GRCh38/hg38 5p15.33-13.2(chr5:54839-35680845)x3 copy number gain See cases [RCV000051811] Chr5:54839..35680845 [GRCh38]
Chr5:54954..35680947 [GRCh37]
Chr5:107954..35716704 [NCBI36]
Chr5:5p15.33-13.2		 pathogenic
GRCh38/hg38 5p15.33-15.31(chr5:3075612-7650835)x3 copy number gain See cases [RCV000051812] Chr5:3075612..7650835 [GRCh38]
Chr5:3075726..7650948 [GRCh37]
Chr5:3128726..7703948 [NCBI36]
Chr5:5p15.33-15.31		 pathogenic
GRCh38/hg38 5p15.33-15.31(chr5:21949-8872509)x3 copy number gain See cases [RCV000051808] Chr5:21949..8872509 [GRCh38]
Chr5:21949..8872621 [GRCh37]
Chr5:74949..8925621 [NCBI36]
Chr5:5p15.33-15.31		 pathogenic
GRCh38/hg38 5p15.33-15.31(chr5:49778-8872509)x3 copy number gain See cases [RCV000051809] Chr5:49778..8872509 [GRCh38]
Chr5:49893..8872621 [GRCh37]
Chr5:102893..8925621 [NCBI36]
Chr5:5p15.33-15.31		 pathogenic
GRCh38/hg38 5p15.33-15.31(chr5:22149-7213275)x1 copy number loss See cases [RCV000053397] Chr5:22149..7213275 [GRCh38]
Chr5:22149..7213388 [GRCh37]
Chr5:75149..7266388 [NCBI36]
Chr5:5p15.33-15.31		 pathogenic
GRCh38/hg38 5p15.33-14.3(chr5:22149-23132046)x1 copy number loss See cases [RCV000053398] Chr5:22149..23132046 [GRCh38]
Chr5:22149..23132155 [GRCh37]
Chr5:75149..23167912 [NCBI36]
Chr5:5p15.33-14.3		 pathogenic
GRCh38/hg38 5p15.33-15.2(chr5:22149-12004091)x1 copy number loss See cases [RCV000053399] Chr5:22149..12004091 [GRCh38]
Chr5:22149..12004203 [GRCh37]
Chr5:75149..12057203 [NCBI36]
Chr5:5p15.33-15.2		 pathogenic
GRCh38/hg38 5p15.33-15.1(chr5:22149-17425613)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053401]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053401]|See cases [RCV000053401] Chr5:22149..17425613 [GRCh38]
Chr5:22149..17425722 [GRCh37]
Chr5:75149..17478722 [NCBI36]
Chr5:5p15.33-15.1		 pathogenic
GRCh38/hg38 5p15.33-15.2(chr5:22149-10044087)x1 copy number loss See cases [RCV000053416] Chr5:22149..10044087 [GRCh38]
Chr5:22149..10044199 [GRCh37]
Chr5:75149..10097199 [NCBI36]
Chr5:5p15.33-15.2		 pathogenic
GRCh38/hg38 5p15.33-15.1(chr5:22149-15995341)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053418]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053418]|See cases [RCV000053418] Chr5:22149..15995341 [GRCh38]
Chr5:22149..15995450 [GRCh37]
Chr5:75149..16048450 [NCBI36]
Chr5:5p15.33-15.1		 pathogenic
GRCh38/hg38 5p15.33-14.3(chr5:22419-19280892)x1 copy number loss See cases [RCV000053419] Chr5:22419..19280892 [GRCh38]
Chr5:22419..19281001 [GRCh37]
Chr5:75419..19316758 [NCBI36]
Chr5:5p15.33-14.3		 pathogenic
GRCh38/hg38 5p15.33-15.1(chr5:49778-16908798)x1 copy number loss See cases [RCV000053422] Chr5:49778..16908798 [GRCh38]
Chr5:49893..16908907 [GRCh37]
Chr5:102893..16961907 [NCBI36]
Chr5:5p15.33-15.1		 pathogenic
GRCh38/hg38 5p15.33-14.3(chr5:49778-19125522)x1 copy number loss See cases [RCV000053424] Chr5:49778..19125522 [GRCh38]
Chr5:49893..19125631 [GRCh37]
Chr5:102893..19161388 [NCBI36]
Chr5:5p15.33-14.3		 pathogenic
GRCh38/hg38 5p15.33-14.1(chr5:547757-26541238)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053445]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053445]|See cases [RCV000053445] Chr5:547757..26541238 [GRCh38]
Chr5:547872..26541347 [GRCh37]
Chr5:600872..26577104 [NCBI36]
Chr5:5p15.33-14.1		 pathogenic
GRCh38/hg38 5p15.33-15.1(chr5:2180761-17602433)x1 copy number loss See cases [RCV000053446] Chr5:2180761..17602433 [GRCh38]
Chr5:2180875..17602542 [GRCh37]
Chr5:2233875..17645646 [NCBI36]
Chr5:5p15.33-15.1		 pathogenic
NM_001145161.2(UBE2QL1):c.354+12415T>C single nucleotide variant Lung cancer [RCV000096126] Chr5:6461662 [GRCh38]
Chr5:6461775 [GRCh37]
Chr5:5p15.31		 uncertain significance
GRCh37/hg19 5p15.33-13.3(chr5:22149-29048823)x1 copy number loss See cases [RCV001310287] Chr5:22149..29048823 [GRCh37]
Chr5:5p15.33-13.3		 pathogenic
GRCh38/hg38 5p15.33-13.3(chr5:22149-33418188)x3 copy number gain See cases [RCV000133788] Chr5:22149..33418188 [GRCh38]
Chr5:22149..33418294 [GRCh37]
Chr5:75149..33454051 [NCBI36]
Chr5:5p15.33-13.3		 pathogenic
GRCh38/hg38 5p15.33-15.2(chr5:22149-12819999)x1 copy number loss See cases [RCV000133796] Chr5:22149..12819999 [GRCh38]
Chr5:22149..12820111 [GRCh37]
Chr5:75149..12873111 [NCBI36]
Chr5:5p15.33-15.2		 pathogenic
GRCh38/hg38 5p15.33-14.1(chr5:22149-25699605)x1 copy number loss See cases [RCV000133768] Chr5:22149..25699605 [GRCh38]
Chr5:22149..25699714 [GRCh37]
Chr5:75149..25735471 [NCBI36]
Chr5:5p15.33-14.1		 pathogenic
GRCh38/hg38 5p15.33-14.1(chr5:22149-27788616)x1 copy number loss See cases [RCV000134873] Chr5:22149..27788616 [GRCh38]
Chr5:22149..27788723 [GRCh37]
Chr5:75149..27824480 [NCBI36]
Chr5:5p15.33-14.1		 pathogenic
GRCh38/hg38 5p15.33-13.3(chr5:22149-32248010)x1 copy number loss See cases [RCV000135668] Chr5:22149..32248010 [GRCh38]
Chr5:22149..32248116 [GRCh37]
Chr5:75149..32283873 [NCBI36]
Chr5:5p15.33-13.3		 pathogenic
GRCh38/hg38 5p15.33-13.3(chr5:49978-30112535)x1 copy number loss See cases [RCV000135878] Chr5:49978..30112535 [GRCh38]
Chr5:50093..30112642 [GRCh37]
Chr5:103093..30148399 [NCBI36]
Chr5:5p15.33-13.3		 pathogenic
GRCh38/hg38 5p15.33-11(chr5:49978-46114984)x3 copy number gain See cases [RCV000135453] Chr5:49978..46114984 [GRCh38]
Chr5:50093..46115086 [GRCh37]
Chr5:103093..46150843 [NCBI36]
Chr5:5p15.33-11		 pathogenic
GRCh38/hg38 5p15.33-15.1(chr5:22149-16584575)x1 copy number loss See cases [RCV000136556] Chr5:22149..16584575 [GRCh38]
Chr5:22149..16584684 [GRCh37]
Chr5:75149..16637684 [NCBI36]
Chr5:5p15.33-15.1		 pathogenic
GRCh38/hg38 5p15.33-15.31(chr5:1544285-8681441)x3 copy number gain See cases [RCV000136901] Chr5:1544285..8681441 [GRCh38]
Chr5:1544400..8681553 [GRCh37]
Chr5:1597400..8734553 [NCBI36]
Chr5:5p15.33-15.31		 pathogenic
GRCh38/hg38 5p15.33-14.1(chr5:22149-27485619)x1 copy number loss See cases [RCV000137072] Chr5:22149..27485619 [GRCh38]
Chr5:22149..27485726 [GRCh37]
Chr5:75149..27521483 [NCBI36]
Chr5:5p15.33-14.1		 pathogenic
GRCh38/hg38 5p15.33-15.1(chr5:22149-15851376)x3 copy number gain See cases [RCV000136943] Chr5:22149..15851376 [GRCh38]
Chr5:22149..15851485 [GRCh37]
Chr5:75149..15904485 [NCBI36]
Chr5:5p15.33-15.1		 pathogenic
GRCh38/hg38 5p15.33-15.31(chr5:2886163-7108295)x1 copy number loss See cases [RCV000137579] Chr5:2886163..7108295 [GRCh38]
Chr5:2886277..7108408 [GRCh37]
Chr5:2939277..7161408 [NCBI36]
Chr5:5p15.33-15.31		 pathogenic
GRCh38/hg38 5p15.33-14.1(chr5:22149-28075106)x3 copy number gain See cases [RCV000137682] Chr5:22149..28075106 [GRCh38]
Chr5:22149..28075213 [GRCh37]
Chr5:75149..28110970 [NCBI36]
Chr5:5p15.33-14.1		 pathogenic|uncertain significance
GRCh38/hg38 5p15.33-14.1(chr5:22149-28429241)x1 copy number loss See cases [RCV000137165] Chr5:22149..28429241 [GRCh38]
Chr5:22149..28429348 [GRCh37]
Chr5:75149..28465105 [NCBI36]
Chr5:5p15.33-14.1		 pathogenic
GRCh38/hg38 5p15.33-14.3(chr5:22149-22775295)x1 copy number loss See cases [RCV000138116] Chr5:22149..22775295 [GRCh38]
Chr5:22149..22775404 [GRCh37]
Chr5:75149..22811161 [NCBI36]
Chr5:5p15.33-14.3		 pathogenic
GRCh38/hg38 5p15.33-14.1(chr5:22149-27187950)x1 copy number loss See cases [RCV000138099] Chr5:22149..27187950 [GRCh38]
Chr5:22149..27188057 [GRCh37]
Chr5:75149..27223814 [NCBI36]
Chr5:5p15.33-14.1		 pathogenic
GRCh38/hg38 5p15.33-15.2(chr5:22149-11429258)x1 copy number loss See cases [RCV000137884] Chr5:22149..11429258 [GRCh38]
Chr5:22149..11429370 [GRCh37]
Chr5:75149..11482370 [NCBI36]
Chr5:5p15.33-15.2		 pathogenic
GRCh38/hg38 5p15.33-15.2(chr5:22149-11530391)x1 copy number loss See cases [RCV000137915] Chr5:22149..11530391 [GRCh38]
Chr5:22149..11530503 [GRCh37]
Chr5:75149..11583503 [NCBI36]
Chr5:5p15.33-15.2		 pathogenic
GRCh38/hg38 5p15.33-14.2(chr5:22149-23607053)x3 copy number gain See cases [RCV000137806] Chr5:22149..23607053 [GRCh38]
Chr5:22149..23607162 [GRCh37]
Chr5:75149..23642919 [NCBI36]
Chr5:5p15.33-14.2		 pathogenic
GRCh38/hg38 5p15.33-13.2(chr5:22149-35831538)x1 copy number loss See cases [RCV000138888] Chr5:22149..35831538 [GRCh38]
Chr5:22149..35831640 [GRCh37]
Chr5:75149..35867397 [NCBI36]
Chr5:5p15.33-13.2		 pathogenic
GRCh38/hg38 5p15.33-q13.3(chr5:22149-74412725)x3 copy number gain See cases [RCV000138780] Chr5:22149..74412725 [GRCh38]
Chr5:22149..73708550 [GRCh37]
Chr5:75149..73744306 [NCBI36]
Chr5:5p15.33-q13.3		 pathogenic
GRCh38/hg38 5p15.33-14.3(chr5:22149-21217120)x1 copy number loss See cases [RCV000138553] Chr5:22149..21217120 [GRCh38]
Chr5:22149..21217229 [GRCh37]
Chr5:75149..21252986 [NCBI36]
Chr5:5p15.33-14.3		 pathogenic
GRCh38/hg38 5p15.33-15.1(chr5:22149-17788697)x1 copy number loss See cases [RCV000138288] Chr5:22149..17788697 [GRCh38]
Chr5:22149..17788806 [GRCh37]
Chr5:75149..17824563 [NCBI36]
Chr5:5p15.33-15.1		 likely benign
GRCh38/hg38 5p15.33-14.1(chr5:22149-28589192)x1 copy number loss See cases [RCV000141225] Chr5:22149..28589192 [GRCh38]
Chr5:22149..28589299 [GRCh37]
Chr5:75149..28625056 [NCBI36]
Chr5:5p15.33-14.1		 pathogenic
GRCh38/hg38 5p15.32-13.2(chr5:4849498-36818719)x3 copy number gain See cases [RCV000141246] Chr5:4849498..36818719 [GRCh38]
Chr5:4849611..36818821 [GRCh37]
Chr5:4902611..36854578 [NCBI36]
Chr5:5p15.32-13.2		 pathogenic
GRCh38/hg38 5p15.33-15.1(chr5:22149-16930016)x1 copy number loss See cases [RCV000140964] Chr5:22149..16930016 [GRCh38]
Chr5:22149..16930125 [GRCh37]
Chr5:75149..16983125 [NCBI36]
Chr5:5p15.33-15.1		 pathogenic
GRCh38/hg38 5p15.33-15.31(chr5:113461-8875933)x1 copy number loss See cases [RCV000141930] Chr5:113461..8875933 [GRCh38]
Chr5:113576..8876045 [GRCh37]
Chr5:166576..8929045 [NCBI36]
Chr5:5p15.33-15.31		 pathogenic
GRCh38/hg38 5p15.33-13.2(chr5:113461-33998289)x1 copy number loss See cases [RCV000141844] Chr5:113461..33998289 [GRCh38]
Chr5:113576..33998394 [GRCh37]
Chr5:166576..34034151 [NCBI36]
Chr5:5p15.33-13.2		 pathogenic
GRCh38/hg38 5p15.32-14.3(chr5:4932707-18465361)x1 copy number loss See cases [RCV000141795] Chr5:4932707..18465361 [GRCh38]
Chr5:4932820..18465470 [GRCh37]
Chr5:4985820..18501227 [NCBI36]
Chr5:5p15.32-14.3		 pathogenic
GRCh38/hg38 5p15.33-15.2(chr5:113461-14684362)x1 copy number loss See cases [RCV000142183] Chr5:113461..14684362 [GRCh38]
Chr5:113576..14684471 [GRCh37]
Chr5:166576..14737471 [NCBI36]
Chr5:5p15.33-15.2		 pathogenic
GRCh38/hg38 5p15.33-14.3(chr5:22149-21726360)x1 copy number loss See cases [RCV000143022] Chr5:22149..21726360 [GRCh38]
Chr5:22149..21726469 [GRCh37]
Chr5:75149..21762226 [NCBI36]
Chr5:5p15.33-14.3		 pathogenic
GRCh38/hg38 5p15.33-14.1(chr5:22149-27611163)x1 copy number loss See cases [RCV000142934] Chr5:22149..27611163 [GRCh38]
Chr5:22149..27611270 [GRCh37]
Chr5:75149..27647027 [NCBI36]
Chr5:5p15.33-14.1		 pathogenic
GRCh38/hg38 5p15.33-14.1(chr5:22149-26593891)x1 copy number loss See cases [RCV000142645] Chr5:22149..26593891 [GRCh38]
Chr5:22149..26594000 [GRCh37]
Chr5:75149..26629757 [NCBI36]
Chr5:5p15.33-14.1		 pathogenic
GRCh38/hg38 5p15.33-15.1(chr5:49978-15678451)x1 copy number loss See cases [RCV000148250] Chr5:49978..15678451 [GRCh38]
Chr5:50093..15678560 [GRCh37]
Chr5:103093..15731560 [NCBI36]
Chr5:5p15.33-15.1		 pathogenic
GRCh37/hg19 5p15.33-13.3(chr5:25328-30672798)x1 copy number loss See cases [RCV000515550] Chr5:25328..30672798 [GRCh37]
Chr5:5p15.33-13.3		 pathogenic
GRCh37/hg19 5p15.33-15.1(chr5:79146-15509107)x1 copy number loss See cases [RCV000240157] Chr5:79146..15509107 [GRCh37]
Chr5:5p15.33-15.1		 pathogenic
t(5;16)(p15.31;q23.1) translocation not provided [RCV000203391] Chr5:1..8180513 [GRCh37]
Chr16:76935310..90354753 [GRCh37]
Chr5:5p15.33-15.31
Chr16:16q23.1-24.3		 likely pathogenic
GRCh37/hg19 5p15.33-13.3(chr5:113576-33493797)x1 copy number loss See cases [RCV000449075] Chr5:113576..33493797 [GRCh37]
Chr5:5p15.33-13.3		 pathogenic
GRCh37/hg19 5p15.33-14.3(chr5:25328-19661628)x3 copy number gain not provided [RCV000234904] Chr5:25328..19661628 [GRCh37]
Chr5:5p15.33-14.3		 pathogenic
GRCh37/hg19 5p15.33-13.2(chr5:22149-34041255)x3 copy number gain See cases [RCV000240016] Chr5:22149..34041255 [GRCh37]
Chr5:5p15.33-13.2		 pathogenic
GRCh37/hg19 5p15.33-15.2(chr5:22149-13362684)x1 copy number loss See cases [RCV000240389] Chr5:22149..13362684 [GRCh37]
Chr5:5p15.33-15.2		 pathogenic
GRCh37/hg19 5p15.33-13.3(chr5:113576-30712376)x1 copy number loss See cases [RCV002285039] Chr5:113576..30712376 [GRCh37]
Chr5:5p15.33-13.3		 pathogenic
GRCh37/hg19 5p15.33-15.1(chr5:113576-16854340)x1 copy number loss See cases [RCV000449097] Chr5:113576..16854340 [GRCh37]
Chr5:5p15.33-15.1		 pathogenic
GRCh37/hg19 5p15.33-13.3(chr5:3159498-30585683)x3 copy number gain See cases [RCV000449100] Chr5:3159498..30585683 [GRCh37]
Chr5:5p15.33-13.3		 pathogenic
GRCh37/hg19 5p15.33-13.3(chr5:113576-30279389)x3 copy number gain See cases [RCV000446077] Chr5:113576..30279389 [GRCh37]
Chr5:5p15.33-13.3		 pathogenic
GRCh37/hg19 5p15.33-14.1(chr5:22149-24835567)x1 copy number loss See cases [RCV000447672] Chr5:22149..24835567 [GRCh37]
Chr5:5p15.33-14.1		 pathogenic
GRCh37/hg19 5p15.33-13.2(chr5:113576-34372083)x1 copy number loss See cases [RCV000446974] Chr5:113576..34372083 [GRCh37]
Chr5:5p15.33-13.2		 pathogenic
GRCh37/hg19 5p15.33-15.2(chr5:22149-9958240)x1 copy number loss See cases [RCV000447483] Chr5:22149..9958240 [GRCh37]
Chr5:5p15.33-15.2		 pathogenic
GRCh37/hg19 5p15.33-15.1(chr5:113576-17334977)x1 copy number loss See cases [RCV000446645] Chr5:113576..17334977 [GRCh37]
Chr5:5p15.33-15.1		 pathogenic
GRCh37/hg19 5p15.33-15.31(chr5:113576-6737134)x1 copy number loss See cases [RCV000446523] Chr5:113576..6737134 [GRCh37]
Chr5:5p15.33-15.31		 pathogenic
GRCh37/hg19 5p15.33-14.1(chr5:113576-27338567)x1 copy number loss See cases [RCV000446054] Chr5:113576..27338567 [GRCh37]
Chr5:5p15.33-14.1		 pathogenic
GRCh37/hg19 5p15.33-15.2(chr5:113576-14238330)x3 copy number gain See cases [RCV000447632] Chr5:113576..14238330 [GRCh37]
Chr5:5p15.33-15.2		 pathogenic
GRCh37/hg19 5p15.33-14.1(chr5:113576-25948451)x1 copy number loss See cases [RCV000447462] Chr5:113576..25948451 [GRCh37]
Chr5:5p15.33-14.1		 pathogenic
GRCh37/hg19 5p15.33-15.31(chr5:1359855-7263257)x1 copy number loss See cases [RCV000445798] Chr5:1359855..7263257 [GRCh37]
Chr5:5p15.33-15.31		 likely pathogenic
GRCh37/hg19 5p15.33-13.2(chr5:22149-34041196)x1 copy number loss See cases [RCV000448019] Chr5:22149..34041196 [GRCh37]
Chr5:5p15.33-13.2		 pathogenic
GRCh37/hg19 5p15.33-14.3(chr5:113576-21786246)x1 copy number loss See cases [RCV000448521] Chr5:113576..21786246 [GRCh37]
Chr5:5p15.33-14.3		 pathogenic
GRCh37/hg19 5p15.33-15.31(chr5:22149-6500967)x1 copy number loss See cases [RCV000448543] Chr5:22149..6500967 [GRCh37]
Chr5:5p15.33-15.31		 pathogenic
GRCh37/hg19 5p15.33-14.3(chr5:113576-23147737)x1 copy number loss See cases [RCV000448408] Chr5:113576..23147737 [GRCh37]
Chr5:5p15.33-14.3		 pathogenic
GRCh37/hg19 5p15.33-14.3(chr5:79146-22152284)x1 copy number loss See cases [RCV000447737] Chr5:79146..22152284 [GRCh37]
Chr5:5p15.33-14.3		 pathogenic
GRCh37/hg19 5p15.33-15.31(chr5:149372-7883578)x3 copy number gain See cases [RCV000447969] Chr5:149372..7883578 [GRCh37]
Chr5:5p15.33-15.31		 pathogenic
GRCh37/hg19 5p15.33-14.1(chr5:113576-25091472)x1 copy number loss See cases [RCV000512066] Chr5:113576..25091472 [GRCh37]
Chr5:5p15.33-14.1		 pathogenic
GRCh37/hg19 5p15.33-14.1(chr5:113576-26234903)x1 copy number loss See cases [RCV000510193] Chr5:113576..26234903 [GRCh37]
Chr5:5p15.33-14.1		 pathogenic
GRCh37/hg19 5p15.33-15.2(chr5:113576-10163809)x1 copy number loss See cases [RCV000511494] Chr5:113576..10163809 [GRCh37]
Chr5:5p15.33-15.2		 pathogenic
GRCh37/hg19 5p15.33-15.1(chr5:113576-15291661)x1 copy number loss See cases [RCV000511513] Chr5:113576..15291661 [GRCh37]
Chr5:5p15.33-15.1		 pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3 copy number gain See cases [RCV000512039] Chr5:113577..180719789 [GRCh37]
Chr5:5p15.33-q35.3		 pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789) copy number gain See cases [RCV000510723] Chr5:113577..180719789 [GRCh37]
Chr5:5p15.33-q35.3		 pathogenic
GRCh37/hg19 5p15.33-15.2(chr5:113576-10729838)x1 copy number loss See cases [RCV000510912] Chr5:113576..10729838 [GRCh37]
Chr5:5p15.33-15.2		 pathogenic
GRCh37/hg19 5p15.33-14.1(chr5:113576-26948599)x1 copy number loss See cases [RCV000510921] Chr5:113576..26948599 [GRCh37]
Chr5:5p15.33-14.1		 pathogenic
GRCh37/hg19 5p15.33-14.3(chr5:113576-23047959)x1 copy number loss See cases [RCV000510786] Chr5:113576..23047959 [GRCh37]
Chr5:5p15.33-14.3		 pathogenic
GRCh37/hg19 5p15.33-14.3(chr5:113576-20240392)x3 copy number gain See cases [RCV000512567] Chr5:113576..20240392 [GRCh37]
Chr5:5p15.33-14.3		 pathogenic
GRCh37/hg19 5p15.33-15.31(chr5:113576-7946262)x1 copy number loss not provided [RCV000682513] Chr5:113576..7946262 [GRCh37]
Chr5:5p15.33-15.31		 pathogenic
GRCh37/hg19 5p15.33-15.1(chr5:113576-15822225)x1 copy number loss not provided [RCV000682514] Chr5:113576..15822225 [GRCh37]
Chr5:5p15.33-15.1		 pathogenic
GRCh37/hg19 5p15.33-14.3(chr5:113576-19167699)x1 copy number loss not provided [RCV000682515] Chr5:113576..19167699 [GRCh37]
Chr5:5p15.33-14.3		 pathogenic
GRCh37/hg19 5p15.33-13.2(chr5:113576-35739404)x3 copy number gain not provided [RCV000682516] Chr5:113576..35739404 [GRCh37]
Chr5:5p15.33-13.2		 pathogenic
GRCh37/hg19 5p15.32-14.3(chr5:5830053-19490899)x1 copy number loss not provided [RCV000682520] Chr5:5830053..19490899 [GRCh37]
Chr5:5p15.32-14.3		 pathogenic
GRCh37/hg19 5p15.32-15.2(chr5:5884444-14122539)x3 copy number gain not provided [RCV000682521] Chr5:5884444..14122539 [GRCh37]
Chr5:5p15.32-15.2		 pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:25328-180693344)x3 copy number gain not provided [RCV000744323] Chr5:25328..180693344 [GRCh37]
Chr5:5p15.33-q35.3		 pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:13648-180905029)x3 copy number gain not provided [RCV000744317] Chr5:13648..180905029 [GRCh37]
Chr5:5p15.33-q35.3		 pathogenic
GRCh37/hg19 5p15.33-14.3(chr5:25328-18662625)x1 copy number loss not provided [RCV000744320] Chr5:25328..18662625 [GRCh37]
Chr5:5p15.33-14.3		 pathogenic
GRCh37/hg19 5p15.33-14.3(chr5:25328-18698028)x3 copy number gain not provided [RCV000744321] Chr5:25328..18698028 [GRCh37]
Chr5:5p15.33-14.3		 pathogenic
GRCh37/hg19 5p15.33-13.3(chr5:25328-31343671)x1 copy number loss not provided [RCV000744322] Chr5:25328..31343671 [GRCh37]
Chr5:5p15.33-13.3		 pathogenic
GRCh37/hg19 5p15.33-15.31(chr5:140474-9792158) copy number loss 5p partial monosomy syndrome [RCV000767710] Chr5:140474..9792158 [GRCh37]
Chr5:5p15.33-15.31		 pathogenic
GRCh37/hg19 5p15.33-14.1(chr5:140474-26906925) copy number loss 5p partial monosomy syndrome [RCV000767709] Chr5:140474..26906925 [GRCh37]
Chr5:5p15.33-14.1		 pathogenic
GRCh37/hg19 5p15.33-15.2(chr5:113576-11767720)x1 copy number loss not provided [RCV001005644] Chr5:113576..11767720 [GRCh37]
Chr5:5p15.33-15.2		 pathogenic
GRCh37/hg19 5p15.32-15.31(chr5:5499308-6666236)x3 copy number gain not provided [RCV000847230] Chr5:5499308..6666236 [GRCh37]
Chr5:5p15.32-15.31		 uncertain significance
GRCh37/hg19 5p15.33-15.2(chr5:1322680-10762544)x1 copy number loss not provided [RCV001005649] Chr5:1322680..10762544 [GRCh37]
Chr5:5p15.33-15.2		 pathogenic
NM_001145161.3(UBE2QL1):c.226C>G (p.Leu76Val) single nucleotide variant not specified [RCV004298935] Chr5:6449119 [GRCh38]
Chr5:6449232 [GRCh37]
Chr5:5p15.31		 uncertain significance
GRCh37/hg19 5p15.33-15.2(chr5:113576-14738180)x1 copy number loss not provided [RCV001005643] Chr5:113576..14738180 [GRCh37]
Chr5:5p15.33-15.2		 pathogenic
GRCh37/hg19 5p15.33-15.1(chr5:113577-17654787)x1 copy number loss not provided [RCV002473919] Chr5:113577..17654787 [GRCh37]
Chr5:5p15.33-15.1		 pathogenic
GRCh37/hg19 5p15.33-14.2(chr5:113576-23364376)x1 copy number loss not provided [RCV001005642] Chr5:113576..23364376 [GRCh37]
Chr5:5p15.33-14.2		 pathogenic
GRCh37/hg19 5p15.33-14.3(chr5:71904-22078969) copy number loss 5p partial monosomy syndrome [RCV001195139] Chr5:71904..22078969 [GRCh37]
Chr5:5p15.33-14.3		 pathogenic
GRCh37/hg19 5p15.33-15.1(chr5:113577-16952167)x1 copy number loss not provided [RCV001827855] Chr5:113577..16952167 [GRCh37]
Chr5:5p15.33-15.1		 pathogenic
GRCh37/hg19 5p15.33-15.31(chr5:113576-8007018)x1 copy number loss See cases [RCV002286352] Chr5:113576..8007018 [GRCh37]
Chr5:5p15.33-15.31		 pathogenic
GRCh37/hg19 5p15.33-13.3(chr5:113576-29310520) copy number gain 5p partial monosomy syndrome [RCV002280773] Chr5:113576..29310520 [GRCh37]
Chr5:5p15.33-13.3		 pathogenic
GRCh37/hg19 5p15.33-15.2(chr5:113576-12601027) copy number loss 5p partial monosomy syndrome [RCV002280774] Chr5:113576..12601027 [GRCh37]
Chr5:5p15.33-15.2		 pathogenic
GRCh37/hg19 5p15.33-13.3(chr5:1-32091038)x1 copy number loss not provided [RCV002472712] Chr5:1..32091038 [GRCh37]
Chr5:5p15.33-13.3		 pathogenic
GRCh37/hg19 5p15.33-14.1(chr5:113577-26164852)x1 copy number loss not provided [RCV002475573] Chr5:113577..26164852 [GRCh37]
Chr5:5p15.33-14.1		 pathogenic
GRCh37/hg19 5p15.33-13.3(chr5:113577-31448527)x1 copy number loss not provided [RCV002475666] Chr5:113577..31448527 [GRCh37]
Chr5:5p15.33-13.3		 pathogenic
NM_001145161.3(UBE2QL1):c.330C>G (p.Phe110Leu) single nucleotide variant not specified [RCV004166840] Chr5:6449223 [GRCh38]
Chr5:6449336 [GRCh37]
Chr5:5p15.31		 uncertain significance
GRCh38/hg38 5p15.33-15.2(chr5:9999-14320000)x1 copy number loss Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome [RCV003327718] Chr5:9999..14320000 [GRCh38]
Chr5:5p15.33-15.2		 pathogenic
GRCh37/hg19 5p15.33-13.2(chr5:113577-35613146)x1 copy number loss not provided [RCV003485447] Chr5:113577..35613146 [GRCh37]
Chr5:5p15.33-13.2		 pathogenic
GRCh37/hg19 5p15.33-15.2(chr5:113577-11095056)x1 copy number loss not provided [RCV003485448] Chr5:113577..11095056 [GRCh37]
Chr5:5p15.33-15.2		 pathogenic
GRCh37/hg19 5p15.33-14.3(chr5:113577-21529653)x1 copy number loss not provided [RCV003485450] Chr5:113577..21529653 [GRCh37]
Chr5:5p15.33-14.3		 pathogenic
GRCh37/hg19 5p15.33-14.3(chr5:862398-18927500)x1 copy number loss not provided [RCV003485453] Chr5:862398..18927500 [GRCh37]
Chr5:5p15.33-14.3		 pathogenic
GRCh37/hg19 5p15.33-13.3(chr5:113577-30529044)x1 copy number loss not provided [RCV003485449] Chr5:113577..30529044 [GRCh37]
Chr5:5p15.33-13.3		 pathogenic
GRCh37/hg19 5p15.33-14.1(chr5:113577-27800913)x3 copy number gain not provided [RCV003484599] Chr5:113577..27800913 [GRCh37]
Chr5:5p15.33-14.1		 pathogenic
GRCh37/hg19 5p15.33-14.1(chr5:113576-28300709)x1 copy number loss not specified [RCV003986544] Chr5:113576..28300709 [GRCh37]
Chr5:5p15.33-14.1		 pathogenic
GRCh37/hg19 5p15.33-14.3(chr5:113576-19388145)x1 copy number loss not specified [RCV003986593] Chr5:113576..19388145 [GRCh37]
Chr5:5p15.33-14.3		 pathogenic
GRCh37/hg19 5p15.33-15.31(chr5:113576-7436985)x1 copy number loss not specified [RCV003986597] Chr5:113576..7436985 [GRCh37]
Chr5:5p15.33-15.31		 pathogenic
GRCh37/hg19 5p15.33-15.1(chr5:3272715-17317051)x1 copy number loss not specified [RCV003986598] Chr5:3272715..17317051 [GRCh37]
Chr5:5p15.33-15.1		 pathogenic
GRCh37/hg19 5p15.33-15.2(chr5:113576-10835556)x1 copy number loss not specified [RCV003986599] Chr5:113576..10835556 [GRCh37]
Chr5:5p15.33-15.2		 pathogenic
GRCh37/hg19 5p15.33-14.1(chr5:113576-26534253)x1 copy number loss not specified [RCV003986560] Chr5:113576..26534253 [GRCh37]
Chr5:5p15.33-14.1		 pathogenic
GRCh37/hg19 5p15.33-15.1(chr5:113576-17511896)x1 copy number loss not specified [RCV003986589] Chr5:113576..17511896 [GRCh37]
Chr5:5p15.33-15.1		 pathogenic
GRCh37/hg19 5p15.32-13.3(chr5:5259461-29748394)x1 copy number loss not specified [RCV003986556] Chr5:5259461..29748394 [GRCh37]
Chr5:5p15.32-13.3		 pathogenic
GRCh37/hg19 5p15.33-13.3(chr5:113577-31773283)x3 copy number gain not provided [RCV004442822] Chr5:113577..31773283 [GRCh37]
Chr5:5p15.33-13.3		 pathogenic
GRCh37/hg19 5p15.33-15.2(chr5:113577-13341742)x1 copy number loss not provided [RCV004442820] Chr5:113577..13341742 [GRCh37]
Chr5:5p15.33-15.2		 pathogenic
NM_001145161.3(UBE2QL1):c.478G>A (p.Asp160Asn) single nucleotide variant not specified [RCV004476894] Chr5:6491341 [GRCh38]
Chr5:6491454 [GRCh37]
Chr5:5p15.31		 uncertain significance
NM_001145161.3(UBE2QL1):c.152T>A (p.Phe51Tyr) single nucleotide variant not specified [RCV004677797] Chr5:6449045 [GRCh38]
Chr5:6449158 [GRCh37]
Chr5:5p15.31		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1504
Count of miRNA genes:871
Interacting mature miRNAs:1014
Transcripts:ENST00000399816
Prediction methods:Miranda, Targetscan
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
407244782GWAS893758_Hlifestyle measurement, maximum cigarettes per day measurement QTL GWAS893758 (human)0.0000005lifestyle measurement, maximum cigarettes per day measurement564880136488014Human

Markers in Region
STS-AA017236  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3756,451,373 - 6,451,576UniSTSGRCh37
Build 3656,504,373 - 6,504,576RGDNCBI36
Celera56,479,046 - 6,479,249RGD
Cytogenetic Map5p15.31UniSTS
HuRef56,426,100 - 6,426,303UniSTS
GeneMap99-GB4 RH Map528.06UniSTS
SHGC-63489  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3756,491,844 - 6,491,984UniSTSGRCh37
Build 3656,544,844 - 6,544,984RGDNCBI36
Celera56,519,513 - 6,519,653RGD
Cytogenetic Map5p15.31UniSTS
HuRef56,466,570 - 6,466,710UniSTS
RH121499  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3756,463,054 - 6,463,353UniSTSGRCh37
Build 3656,516,054 - 6,516,353RGDNCBI36
Celera56,490,723 - 6,491,022RGD
Cytogenetic Map5p15.31UniSTS
HuRef56,437,777 - 6,438,076UniSTS
TNG Radiation Hybrid Map52903.0UniSTS
D5S1637E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3756,492,402 - 6,492,528UniSTSGRCh37
Build 3656,545,402 - 6,545,528RGDNCBI36
Celera56,520,071 - 6,520,197RGD
Cytogenetic Map5p15.31UniSTS
HuRef56,467,128 - 6,467,254UniSTS
SHGC-141817  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3756,474,508 - 6,474,815UniSTSGRCh37
Build 3656,527,508 - 6,527,815RGDNCBI36
Celera56,502,181 - 6,502,488RGD
Cytogenetic Map5p15.31UniSTS
HuRef56,449,238 - 6,449,545UniSTS
TNG Radiation Hybrid Map52914.0UniSTS
SHGC-146107  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3756,495,449 - 6,495,720UniSTSGRCh37
Build 3656,548,449 - 6,548,720RGDNCBI36
Celera56,523,118 - 6,523,389RGD
Cytogenetic Map5p15.31UniSTS
HuRef56,470,175 - 6,470,446UniSTS
TNG Radiation Hybrid Map52921.0UniSTS
RH79039  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3756,492,325 - 6,492,511UniSTSGRCh37
Build 3656,545,325 - 6,545,511RGDNCBI36
Celera56,519,994 - 6,520,180RGD
Cytogenetic Map5p15.31UniSTS
HuRef56,467,051 - 6,467,237UniSTS
GeneMap99-GB4 RH Map528.16UniSTS
NCBI RH Map510.0UniSTS
RH36019  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3756,491,586 - 6,491,871UniSTSGRCh37
Build 3656,544,586 - 6,544,871RGDNCBI36
Celera56,519,255 - 6,519,540RGD
Cytogenetic Map5p15.31UniSTS
HuRef56,466,312 - 6,466,597UniSTS
GeneMap99-GB4 RH Map522.84UniSTS
NCBI RH Map510.0UniSTS
D5S1575E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3756,492,433 - 6,492,527UniSTSGRCh37
Build 3656,545,433 - 6,545,527RGDNCBI36
Celera56,520,102 - 6,520,196RGD
Cytogenetic Map5p15.31UniSTS
HuRef56,467,159 - 6,467,253UniSTS
GeneMap99-GB4 RH Map528.06UniSTS
NCBI RH Map516.1UniSTS
A003B33  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3756,492,418 - 6,492,597UniSTSGRCh37
Build 3656,545,418 - 6,545,597RGDNCBI36
Celera56,520,087 - 6,520,266RGD
Cytogenetic Map5p15.31UniSTS
HuRef56,467,144 - 6,467,323UniSTS
GeneMap99-GB4 RH Map528.16UniSTS
NCBI RH Map510.0UniSTS
SHGC-63488  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3756,492,435 - 6,492,555UniSTSGRCh37
Build 3656,545,435 - 6,545,555RGDNCBI36
Celera56,520,104 - 6,520,224RGD
Cytogenetic Map5p15.31UniSTS
HuRef56,467,161 - 6,467,281UniSTS
TNG Radiation Hybrid Map52921.0UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2323 2788 2231 4897 1706 2240 3 610 1610 448 2218 6836 6129 39 3708 808 1666 1522 171 1

Sequence


Ensembl Acc Id: ENST00000399816   ⟹   ENSP00000382713
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl56,448,859 - 6,496,723 (+)Ensembl
RefSeq Acc Id: NM_001145161   ⟹   NP_001138633
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3856,448,859 - 6,496,723 (+)NCBI
GRCh3756,437,460 - 6,496,834 (+)NCBI
Celera56,476,425 - 6,520,375 (+)RGD
HuRef56,466,054 - 6,471,560 (+)ENTREZGENE
CHM1_156,448,829 - 6,496,771 (+)NCBI
T2T-CHM13v2.056,379,225 - 6,427,083 (+)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001138633 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein A1L167 (Get FASTA)   NCBI Sequence Viewer  
  AAI27724 (Get FASTA)   NCBI Sequence Viewer  
  AAI50555 (Get FASTA)   NCBI Sequence Viewer  
  EAX08109 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000382713
  ENSP00000382713.3
  ENSP00000517282.1
RefSeq Acc Id: NP_001138633   ⟸   NM_001145161
- UniProtKB: A1L167 (UniProtKB/Swiss-Prot)
- Sequence:
Ensembl Acc Id: ENSP00000382713   ⟸   ENST00000399816
Protein Domains
UBC core

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-A1L167-F1-model_v2 AlphaFold A1L167 1-161 view protein structure

Promoters
RGD ID:6869210
Promoter ID:EPDNEW_H7770
Type:initiation region
Name:UBE2QL1_1
Description:ubiquitin conjugating enzyme E2 Q family like 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh3856,448,719 - 6,448,779EPDNEW
RGD ID:6803627
Promoter ID:HG_KWN:49751
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562,   Lymphoblastoid
Transcripts:NM_001145161
Position:
Human AssemblyChrPosition (strand)Source
Build 3656,500,689 - 6,501,189 (+)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:37269 AgrOrtholog
COSMIC UBE2QL1 COSMIC
Ensembl Genes ENSG00000215218 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
  ENSG00000291747 UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000399816 ENTREZGENE
  ENST00000399816.4 UniProtKB/Swiss-Prot
  ENST00000708565.1 UniProtKB/Swiss-Prot
Gene3D-CATH 3.10.110.10 UniProtKB/Swiss-Prot
GTEx ENSG00000215218 GTEx
  ENSG00000291747 GTEx
HGNC ID HGNC:37269 ENTREZGENE
Human Proteome Map UBE2QL1 Human Proteome Map
InterPro UBQ-conjugat_E2 UniProtKB/Swiss-Prot
  UBQ-conjugating_enzyme/RWD UniProtKB/Swiss-Prot
KEGG Report hsa:134111 UniProtKB/Swiss-Prot
NCBI Gene 134111 ENTREZGENE
OMIM 615832 OMIM
Pfam UQ_con UniProtKB/Swiss-Prot
PharmGKB PA165660602 PharmGKB
PROSITE UBIQUITIN_CONJUGAT_2 UniProtKB/Swiss-Prot
SMART UBCc UniProtKB/Swiss-Prot
Superfamily-SCOP SSF54495 UniProtKB/Swiss-Prot
UniProt A1L167 ENTREZGENE, UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2024-03-18 UBE2QL1  ubiquitin conjugating enzyme E2 QL1  UBE2QL1  ubiquitin conjugating enzyme E2 Q family like 1  Symbol and/or name change 19259463 PROVISIONAL
2016-03-21 UBE2QL1  ubiquitin conjugating enzyme E2 Q family like 1    ubiquitin conjugating enzyme E2Q family like 1  Symbol and/or name change 5135510 APPROVED
2016-02-02 UBE2QL1  ubiquitin conjugating enzyme E2Q family like 1    ubiquitin conjugating enzyme E2Q family-like 1  Symbol and/or name change 5135510 APPROVED
2015-11-24 UBE2QL1  ubiquitin conjugating enzyme E2Q family-like 1    ubiquitin-conjugating enzyme E2Q family-like 1  Symbol and/or name change 5135510 APPROVED